Variant report

Variant	esv3417605
Chromosome Location	chr12:49521878-49578961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1433)
CpG islands
(count:1159)
Chromatin interactive
region (count:205)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1433 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:49538291-49538369	K562	blood:	n/a	n/a
2	ARID3A	chr12:49524002-49525309	K562	blood:	n/a	chr12:49524674-49524686
3	ARID3A	chr12:49524052-49524790	HepG2	liver:	n/a	chr12:49524674-49524686
4	ATF1	chr12:49554207-49554370	K562	blood:	n/a	n/a
5	ATF2	chr12:49525007-49525915	GM12878	blood:	n/a	n/a
6	ATF2	chr12:49523729-49525001	GM12878	blood:	n/a	n/a
7	ATF2	chr12:49570537-49570942	GM12878	blood:	n/a	n/a
8	ATF2	chr12:49523512-49524832	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr12:49523834-49525238	GM12878	blood:	n/a	n/a
10	ATF2	chr12:49523838-49525151	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr12:49523905-49524861	K562	blood:	n/a	chr12:49524156-49524165
12	ATF3	chr12:49523816-49525253	A549	lung:	n/a	chr12:49524156-49524165
13	ATF3	chr12:49523896-49524702	K562	blood:	n/a	chr12:49524156-49524165
14	ATF3	chr12:49523939-49525144	A549	lung:	n/a	chr12:49524156-49524165
15	BACH1	chr12:49523967-49524835	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr12:49523863-49525188	K562	blood:	n/a	n/a
17	BACH1	chr12:49525116-49525543	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr12:49524015-49524350	GM12878	blood:	n/a	n/a
19	BCL11A	chr12:49523936-49524298	GM12878	blood:	n/a	n/a
20	BCL11A	chr12:49521747-49522402	GM12878	blood:	n/a	n/a
21	BCL3	chr12:49523701-49524380	K562	blood:	n/a	n/a
22	BCL3	chr12:49524926-49525250	K562	blood:	n/a	chr12:49525019-49525032
23	BCL3	chr12:49523533-49525804	A549	lung:	n/a	chr12:49524605-49524618 chr12:49525342-49525355 chr12:49525630-49525639 chr12:49525019-49525032
24	BCL3	chr12:49524914-49525517	GM12878	blood:	n/a	chr12:49525342-49525355 chr12:49525019-49525032
25	BCL3	chr12:49523672-49525291	A549	lung:	n/a	chr12:49524605-49524618 chr12:49525019-49525032
26	BCL3	chr12:49525350-49526088	A549	lung:	n/a	chr12:49525630-49525639
27	BCLAF1	chr12:49555137-49555613	K562	blood:	n/a	n/a
28	BCLAF1	chr12:49523481-49525580	K562	blood:	n/a	chr12:49524605-49524618 chr12:49525342-49525355 chr12:49525019-49525032
29	BCLAF1	chr12:49523775-49525744	GM12878	blood:	n/a	chr12:49524605-49524618 chr12:49525342-49525355 chr12:49525630-49525639 chr12:49525019-49525032
30	BCLAF1	chr12:49523813-49525253	K562	blood:	n/a	chr12:49524605-49524618 chr12:49525019-49525032
31	BCLAF1	chr12:49523537-49525302	GM12878	blood:	n/a	chr12:49524605-49524618 chr12:49525019-49525032
32	BCLAF1	chr12:49555192-49555573	GM12878	blood:	n/a	n/a
33	BCLAF1	chr12:49525314-49526200	GM12878	blood:	n/a	chr12:49525342-49525355 chr12:49525630-49525639 chr12:49526122-49526131
34	BCLAF1	chr12:49555250-49555636	K562	blood:	n/a	n/a
35	BHLHE40	chr12:49554084-49554321	K562	blood:	n/a	n/a
36	BHLHE40	chr12:49523837-49526034	K562	blood:	n/a	chr12:49525180-49525196 chr12:49525292-49525308
37	BHLHE40	chr12:49523882-49525510	HepG2	liver:	n/a	chr12:49525180-49525196 chr12:49525292-49525308
38	BHLHE40	chr12:49523898-49524766	A549	lung:	n/a	n/a
39	BHLHE40	chr12:49523839-49525840	GM12878	blood:	n/a	chr12:49525180-49525196 chr12:49525292-49525308
40	BRCA1	chr12:49524043-49525219	GM12878	blood:	n/a	n/a
41	BRCA1	chr12:49525017-49525164	HepG2	liver:	n/a	n/a
42	BRCA1	chr12:49523814-49524653	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr12:49524010-49524730	HepG2	liver:	n/a	n/a
44	BRCA1	chr12:49523756-49525164	Hela-S3	cervix:	n/a	n/a
45	CBX3	chr12:49555216-49555556	K562	blood:	n/a	n/a
46	CBX3	chr12:49523892-49524786	K562	blood:	n/a	n/a
47	CBX3	chr12:49567927-49568286	K562	blood:	n/a	n/a
48	CBX3	chr12:49523670-49525688	K562	blood:	n/a	n/a
49	CCNT2	chr12:49523928-49525592	K562	blood:	n/a	chr12:49524116-49524125 chr12:49525331-49525340
50	CEBPB	chr12:49523789-49525396	GM12878	blood:	n/a	chr12:49524435-49524452

(count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49524560-49524610	HRE	kidney:	n/a
2	chr12:49524048-49524098	HRCEpiC	kidney:	n/a
3	chr12:49526040-49526090	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:49525474-49525524	PrEC	prostate:	n/a
5	chr12:49525240-49525290	HIPEpiC	eye:	n/a
6	chr12:49527755-49527805	H1-hESC	embryonic stem cell:	embryo
7	chr12:49525474-49525524	HEK293	kidney:	embryo
8	chr12:49524048-49524098	HepG2	liver:	n/a
9	chr12:49524560-49524610	AG10803	skin:	n/a
10	chr12:49525542-49525592	MCF10A-Er-Src	breast:	n/a
11	chr12:49524048-49524098	K562	blood:	n/a
12	chr12:49526040-49526090	GM06990	blood:	n/a
13	chr12:49524893-49524943	HepG2	liver:	n/a
14	chr12:49526897-49526947	PrEC	prostate:	n/a
15	chr12:49524893-49524943	AoSMC	blood vessel:	n/a
16	chr12:49524797-49524847	HNPCEpiC	eye:	n/a
17	chr12:49524778-49524828	AG09309	skin:	n/a
18	chr12:49526778-49526828	SK-N-MC	brain:	n/a
19	chr12:49526040-49526090	HCF	heart:	n/a
20	chr12:49524560-49524610	HNPCEpiC	eye:	n/a
21	chr12:49524560-49524610	PrEC	prostate:	n/a
22	chr12:49525491-49525541	HEEpiC	esophagus:	n/a
23	chr12:49525474-49525524	HNPCEpiC	eye:	n/a
24	chr12:49525240-49525290	A549	lung:	n/a
25	chr12:49525491-49525541	HCPEpiC	choroid plexus:	n/a
26	chr12:49525491-49525541	MCF10A-Er-Src	breast:	n/a
27	chr12:49524560-49524610	GM12891	blood:	n/a
28	chr12:49524541-49524591	ECC-1	luminal epithelium:	n/a
29	chr12:49525240-49525290	AG09319	gingival:	n/a
30	chr12:49527755-49527805	NT2-D1	testis:	n/a
31	chr12:49524797-49524847	ovcar-3	ovarian:	n/a
32	chr12:49525534-49525584	A549	lung:	n/a
33	chr12:49527755-49527805	BJ	skin:	n/a
34	chr12:49524181-49524231	HNPCEpiC	eye:	n/a
35	chr12:49525240-49525290	MCF-7	breast:	n/a
36	chr12:49524048-49524098	SK-N-MC	brain:	n/a
37	chr12:49525240-49525290	HNPCEpiC	eye:	n/a
38	chr12:49524181-49524231	NHBE	bronchial:	n/a
39	chr12:49527755-49527805	ECC-1	luminal epithelium:	n/a
40	chr12:49525534-49525584	HAEpiC	amniotic membrane:	n/a
41	chr12:49527755-49527805	SK-N-MC	brain:	n/a
42	chr12:49524797-49524847	SAEC	small airway:	n/a
43	chr12:49524048-49524098	SKMC	muscle:	n/a
44	chr12:49525133-49525183	AoSMC	blood vessel:	n/a
45	chr12:49525474-49525524	PFSK-1	brain:	n/a
46	chr12:49526778-49526828	CMK	blood:	n/a
47	chr12:49525133-49525183	H1-hESC	embryonic stem cell:	embryo
48	chr12:49525474-49525524	HL-60	blood:	n/a
49	chr12:49525534-49525584	T-47D	breast:	n/a
50	chr12:49525542-49525592	HRPEpiC	eye:	n/a

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr12:49540347..49542996-chr12:49573195..49574779,2	K562	blood:
2	chr12:49451508..49465481-chr12:49521303..49528986,40	MCF-7	breast:
3	chr12:49524596..49525216-chr2:86422054..86422794,3	Hela-S3	cervix:
4	chr12:49523677..49527856-chr12:49529578..49534524,9	MCF-7	breast:
5	chr12:49524913..49525746-chr7:100026885..100027526,2	Hela-S3	cervix:
6	chr12:49531993..49533665-chr12:49657893..49660663,2	K562	blood:
7	chr12:49523853..49526468-chr12:49555664..49558850,3	MCF-7	breast:
8	chr12:49530579..49532896-chr12:49538813..49542516,4	K562	blood:
9	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
10	chr12:49541333..49543637-chr12:49556219..49557962,2	K562	blood:
11	chr1:25572724..25573288-chr12:49524920..49525636,2	Hela-S3	cervix:
12	chr12:49519590..49527322-chr12:49655772..49662610,57	K562	blood:
13	chr12:49524722..49526786-chr6:26026886..26029164,2	K562	blood:
14	chr12:49523620..49525401-chr6:83775446..83777395,2	K562	blood:
15	chr12:49523136..49525878-chr12:49570985..49573324,2	K562	blood:
16	chr12:49523298..49526534-chr12:49578242..49583023,5	K562	blood:
17	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
18	chr12:49524775..49526324-chr12:49567931..49569808,2	K562	blood:
19	chr12:49522979..49526796-chr12:49655970..49661455,13	MCF-7	breast:
20	chr11:90015255..90016277-chr12:49524859..49525413,3	Hela-S3	cervix:
21	chr12:49524727..49525240-chr9:35072176..35072840,2	Hela-S3	cervix:
22	chr12:49521045..49522741-chr12:49576322..49578574,2	K562	blood:
23	chr12:49530961..49533783-chr12:49580481..49584287,4	MCF-7	breast:
24	chr12:49524117..49526157-chr12:49544036..49546736,3	MCF-7	breast:
25	chr12:49523734..49526055-chr12:49729624..49732129,2	K562	blood:
26	chr12:49523551..49526039-chr17:56756655..56758346,2	K562	blood:
27	chr12:49577117..49578684-chr12:49582643..49584249,2	K562	blood:
28	chr12:49525315..49525916-chr21:34851928..34852894,2	Hela-S3	cervix:
29	chr12:49540518..49542956-chr12:49545372..49548439,3	K562	blood:
30	chr12:49524515..49525072-chr5:96143647..96144215,2	Hela-S3	cervix:
31	chr1:144533699..144534312-chr12:49525254..49525781,2	Hela-S3	cervix:
32	chr1:32816354..32817294-chr12:49524489..49525381,2	Hela-S3	cervix:
33	chr12:3067756..3068750-chr12:49524687..49525383,2	Hela-S3	cervix:
34	chr12:49540518..49542956-chr12:49545372..49548439,3	K562	blood:
35	chr12:49524802..49525583-chr5:39074138..39074997,2	Hela-S3	cervix:
36	chr12:49522965..49525829-chr12:49540329..49542888,2	MCF-7	breast:
37	chr12:49533073..49535795-chr12:49661700..49663392,2	K562	blood:
38	chr12:49550067..49551748-chr12:49554689..49556929,2	K562	blood:
39	chr12:49478072..49490419-chr12:49518907..49527034,52	K562	blood:
40	chr12:49482687..49485468-chr12:49530942..49533041,2	K562	blood:
41	chr12:49524009..49524930-chr17:57923318..57924077,2	MCF-7	breast:
42	chr12:49540518..49542156-chr12:49545372..49547379,3	K562	blood:
43	chr12:49524480..49525261-chr16:30388868..30389817,3	Hela-S3	cervix:
44	chr1:149858292..149859127-chr12:49524232..49525283,3	Hela-S3	cervix:
45	chr12:49524416..49525157-chr19:47760741..47761642,2	Hela-S3	cervix:
46	chr12:49550067..49551748-chr12:49554689..49556929,2	K562	blood:
47	chr1:78469721..78470513-chr12:49524722..49525238,2	NB4	blood:
48	chr12:49555555..49558030-chr12:49574944..49577744,2	MCF-7	breast:
49	chr1:169075238..169075823-chr12:49525054..49525857,2	NB4	blood:
50	chr12:49540347..49542996-chr12:49573195..49574779,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TUBA1C-1	chr12:49541446-49541652	ENSG00000258017.1
2	lnc-TUBA1C-1	chr12:49524954-49525164	ENSG00000258017.1
3	lnc-TUBA1C-1	chr12:49525493-49525608	ENSG00000258017.1
4	lnc-TUBA1C-1	chr12:49541446-49541648	ENSG00000258017.1

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	TUBA1A	hsa-miR-16-5p	chr12:49578766-49578787
2	TUBA1A	hsa-miR-16-5p	chr12:49578772-49578766
3	TUBA1A	hsa-miR-10a-5p	chr12:49578756-49578779

Variant related genes	Relation type
TUBA1B	TF binding region
ENSG00000200309	TF binding region
TUBA1C	TF binding region
ENSG00000258017	TF binding region
TUBA1B	CpG island
ENSG00000200309	CpG island
TUBA1C	CpG island
ENSG00000258017	CpG island
ENSG00000197153	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000162526	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000153179	chromatin interactions
ENSG00000105321	chromatin interactions
ENSG00000100445	chromatin interactions
ENSG00000110844	chromatin interactions
ENSG00000180209	chromatin interactions
ENSG00000204619	chromatin interactions
ENSG00000164404	chromatin interactions
ENSG00000118420	chromatin interactions
ENSG00000141499	chromatin interactions
ENSG00000072756	chromatin interactions
ENSG00000145743	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000171530	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000170584	chromatin interactions
ENSG00000166801	chromatin interactions
ENSG00000167535	chromatin interactions
ENSG00000186897	chromatin interactions
ENSG00000164405	chromatin interactions
ENSG00000072571	chromatin interactions
ENSG00000109917	chromatin interactions
ENSG00000206535	chromatin interactions
ENSG00000269089	chromatin interactions
ENSG00000083097	chromatin interactions
ENSG00000168876	chromatin interactions
ENSG00000121274	chromatin interactions
ENSG00000187778	chromatin interactions
ENSG00000167552	chromatin interactions
ENSG00000139549	chromatin interactions
ENSG00000055483	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000106144	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000273080	chromatin interactions
ENSG00000012983	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000200309	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000064313	chromatin interactions
ENSG00000257346	chromatin interactions
ENSG00000148356	chromatin interactions
ENSG00000214391	chromatin interactions
ENSG00000166888	chromatin interactions
ENSG00000101193	chromatin interactions
ENSG00000143153	chromatin interactions
ENSG00000101457	chromatin interactions
ENSG00000120137	chromatin interactions
ENSG00000148019	chromatin interactions
ENSG00000165280	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000116668	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000167550	chromatin interactions
ENSG00000051108	chromatin interactions
ENSG00000233276	chromatin interactions
ENSG00000117616	chromatin interactions
ENSG00000231365	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000142188	chromatin interactions
ENSG00000121486	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000223959	chromatin interactions
ENSG00000136521	chromatin interactions
ENSG00000257913	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000156970	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000262049	chromatin interactions
ENSG00000144224	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000116874	chromatin interactions
ENSG00000164292	chromatin interactions
ENSG00000174748	chromatin interactions
ENSG00000167548	chromatin interactions
ENSG00000134287	chromatin interactions
ENSG00000139636	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000079432	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000164327	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000164307	chromatin interactions
ENSG00000167470	chromatin interactions
ENSG00000099899	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000139131	chromatin interactions
ENSG00000197061	chromatin interactions
ENSG00000197905	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000197958	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000124116	chromatin interactions
ENSG00000166710	chromatin interactions
ENSG00000154174	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000181744	chromatin interactions
ENSG00000272822	chromatin interactions
ENSG00000020922	chromatin interactions
ENSG00000171126	chromatin interactions
ENSG00000132305	chromatin interactions
ENSG00000181418	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000088387	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000135406	chromatin interactions
ENSG00000258283	chromatin interactions
ENSG00000136518	chromatin interactions
ENSG00000102854	chromatin interactions
ENSG00000177946	chromatin interactions
ENSG00000197498	chromatin interactions
ENSG00000066117	chromatin interactions
ENSG00000181929	chromatin interactions

Extended variants
information (count: 2013 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2013 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367936718	chr12:49521894-49521895	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs138994103	chr12:49521963-49521964	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs372076083	chr12:49522008-49522009	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs706799	chr12:49522029-49522030	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs1059274	chr12:49522078-49522079	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs1059258	chr12:49522080-49522081	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs3180692	chr12:49522087-49522088	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs141542291	chr12:49522089-49522090	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs539660871	chr12:49522143-49522144	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs199895521	chr12:49522238-49522239	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs376928587	chr12:49522305-49522306	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs201583447	chr12:49522440-49522441	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs200120205	chr12:49522445-49522446	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs576464083	chr12:49522514-49522515	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs542269810	chr12:49522521-49522522	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs11267025	chr12:49522578-49522579	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs1057548	chr12:49522605-49522606	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540564272	chr12:49522615-49522616	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs150876346	chr12:49522638-49522639	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs16924507	chr12:49522644-49522645	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs532411919	chr12:49522668-49522669	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs149584000	chr12:49522707-49522708	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs11546601	chr12:49522720-49522721	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs184979162	chr12:49522724-49522725	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs570478590	chr12:49522727-49522728	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs368283918	chr12:49522728-49522729	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs190664963	chr12:49522742-49522743	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs10160974	chr12:49522745-49522746	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs140801740	chr12:49522759-49522760	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs568010635	chr12:49522761-49522762	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs201677952	chr12:49522786-49522787	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs200751015	chr12:49522789-49522790	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs755231	chr12:49522811-49522812	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs570833807	chr12:49522828-49522829	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs184549198	chr12:49522831-49522832	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs369439158	chr12:49522842-49522843	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs144687571	chr12:49522843-49522844	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs570223788	chr12:49522869-49522870	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs188300817	chr12:49522880-49522881	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs555810809	chr12:49522889-49522890	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs572504461	chr12:49522917-49522918	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs368095833	chr12:49522946-49522947	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs558154114	chr12:49522970-49522971	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs371576569	chr12:49522987-49522988	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs577211585	chr12:49522989-49522990	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs147882929	chr12:49522990-49522991	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs371271978	chr12:49523013-49523014	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs111410249	chr12:49523021-49523022	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs138579533	chr12:49523032-49523033	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs11546582	chr12:49523035-49523036	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1130 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49515000-49522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:49515000-49522800	Weak transcription	Stomach Mucosa	stomach
3	chr12:49515200-49522800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:49519000-49522800	Weak transcription	Gastric	stomach
5	chr12:49519200-49523600	Weak transcription	Psoas Muscle	Psoas
6	chr12:49519400-49522800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:49519600-49523600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:49520000-49523400	Weak transcription	Small Intestine	intestine
9	chr12:49520400-49522800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:49520400-49523000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:49520400-49523400	Strong transcription	Fetal Stomach	stomach
12	chr12:49520600-49522000	Strong transcription	Fetal Lung	lung
13	chr12:49520600-49522400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:49520600-49522800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:49520600-49522800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:49520600-49522800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr12:49520600-49522800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:49520600-49522800	Strong transcription	Brain Hippocampus Middle	brain
19	chr12:49520600-49522800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr12:49520600-49522800	Strong transcription	HMEC	breast
21	chr12:49520600-49522800	Strong transcription	NH-A	brain
22	chr12:49520600-49523000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:49520600-49523000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:49520600-49523000	Strong transcription	Fetal Thymus	thymus
25	chr12:49520600-49523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:49520600-49523200	Strong transcription	Fetal Intestine Large	intestine
27	chr12:49520600-49523200	Strong transcription	Placenta	Placenta
28	chr12:49520600-49523400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:49520600-49523400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:49520600-49523400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:49520800-49522000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:49520800-49522000	ZNF genes & repeats	GM12878-XiMat	blood
33	chr12:49520800-49522200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:49520800-49522200	Strong transcription	Primary T cells from cord blood	blood
35	chr12:49520800-49522200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:49520800-49522200	Strong transcription	Aorta	Aorta
37	chr12:49520800-49522200	Strong transcription	Fetal Brain Male	brain
38	chr12:49520800-49522400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:49520800-49522400	Strong transcription	Osteobl	bone
40	chr12:49520800-49522600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:49520800-49522600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:49520800-49522600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:49520800-49522600	Strong transcription	Colon Smooth Muscle	Colon
44	chr12:49520800-49522600	Strong transcription	Lung	lung
45	chr12:49520800-49522800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:49520800-49522800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:49520800-49522800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:49520800-49522800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:49520800-49522800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:49520800-49522800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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