Variant report

Variant	esv1836043
Chromosome Location	chr12:123709409-123822503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3018)
CpG islands
(count:3300)
Chromatin interactive
region (count:223)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3018 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123717021-123718163	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123722748-123722853	K562	blood:	n/a	n/a
3	ARID3A	chr12:123754668-123754811	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123717359-123718236	K562	blood:	n/a	n/a
5	ARID3A	chr12:123722699-123722953	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:123777776-123778317	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:123756709-123756904	K562	blood:	n/a	n/a
8	ATF1	chr12:123717293-123718156	K562	blood:	n/a	n/a
9	ATF2	chr12:123762651-123763327	GM12878	blood:	n/a	n/a
10	ATF2	chr12:123716993-123717733	GM12878	blood:	n/a	n/a
11	ATF2	chr12:123717344-123718068	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr12:123721847-123723074	GM12878	blood:	n/a	n/a
13	ATF2	chr12:123717298-123717819	GM12878	blood:	n/a	n/a
14	ATF2	chr12:123762667-123763346	GM12878	blood:	n/a	n/a
15	ATF2	chr12:123754580-123755012	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr12:123716799-123717823	A549	lung:	n/a	chr12:123717501-123717515 chr12:123717694-123717703
17	BACH1	chr12:123717290-123718425	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr12:123753966-123754199	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr12:123716581-123716766	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr12:123771526-123771688	K562	blood:	n/a	n/a
21	BATF	chr12:123762784-123763205	GM12878	blood:	n/a	n/a
22	BATF	chr12:123762761-123763216	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:123762845-123763095	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:123762765-123763189	GM12878	blood:	n/a	n/a
25	BCL3	chr12:123734932-123736018	A549	lung:	n/a	n/a
26	BCL3	chr12:123771233-123771663	A549	lung:	n/a	n/a
27	BCL3	chr12:123717029-123718115	A549	lung:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
28	BCL3	chr12:123803789-123804177	GM12878	blood:	n/a	n/a
29	BCL3	chr12:123803847-123804160	GM12878	blood:	n/a	n/a
30	BCL3	chr12:123717059-123718641	A549	lung:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
31	BCL3	chr12:123756507-123757008	A549	lung:	n/a	chr12:123756611-123756624 chr12:123756617-123756630 chr12:123756618-123756631
32	BCLAF1	chr12:123721858-123723038	GM12878	blood:	n/a	n/a
33	BCLAF1	chr12:123716970-123717770	GM12878	blood:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
34	BCLAF1	chr12:123717123-123717822	GM12878	blood:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
35	BCLAF1	chr12:123762782-123763326	GM12878	blood:	n/a	n/a
36	BCLAF1	chr12:123755513-123755995	GM12878	blood:	n/a	chr12:123755547-123755560
37	BCLAF1	chr12:123721174-123721652	GM12878	blood:	n/a	n/a
38	BCLAF1	chr12:123762688-123763187	GM12878	blood:	n/a	n/a
39	BHLHE40	chr12:123717227-123718520	K562	blood:	n/a	chr12:123717626-123717642
40	BHLHE40	chr12:123717255-123718246	GM12878	blood:	n/a	chr12:123717626-123717642
41	BHLHE40	chr12:123722645-123722914	GM12878	blood:	n/a	n/a
42	BHLHE40	chr12:123755245-123755399	K562	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268
43	BHLHE40	chr12:123721200-123721652	GM12878	blood:	n/a	n/a
44	BHLHE40	chr12:123756652-123756745	K562	blood:	n/a	n/a
45	BHLHE40	chr12:123762821-123763199	GM12878	blood:	n/a	n/a
46	BHLHE40	chr12:123739727-123739824	A549	lung:	n/a	n/a
47	BHLHE40	chr12:123755217-123755827	GM12878	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268
48	BHLHE40	chr12:123716701-123716744	K562	blood:	n/a	n/a
49	BHLHE40	chr12:123749245-123749445	HepG2	liver:	n/a	chr12:123749419-123749435
50	BHLHE40	chr12:123755744-123755807	K562	blood:	n/a	n/a

(count:3300 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123757474-123757524	A549	lung:	n/a
2	chr12:123717776-123717826	GM12892	blood:	n/a
3	chr12:123755018-123755068	BJ	skin:	n/a
4	chr12:123758006-123758056	SK-N-SH	brain:	n/a
5	chr12:123756755-123756805	HEK293	kidney:	embryo
6	chr12:123717050-123717100	RPTEC	kidney:	n/a
7	chr12:123757474-123757524	A549	lung:	n/a
8	chr12:123717776-123717826	GM12892	blood:	n/a
9	chr12:123755018-123755068	BJ	skin:	n/a
10	chr12:123758006-123758056	SK-N-SH	brain:	n/a
11	chr12:123756755-123756805	HEK293	kidney:	embryo
12	chr12:123717050-123717100	RPTEC	kidney:	n/a
13	chr12:123756791-123756841	Jurkat	blood:	n/a
14	chr12:123717050-123717100	PFSK-1	brain:	n/a
15	chr12:123717776-123717826	HEK293	kidney:	embryo
16	chr12:123757337-123757387	Hepatocyte	liver:	n/a
17	chr12:123717480-123717530	ovcar-3	ovarian:	n/a
18	chr12:123756755-123756805	SK-N-SH_RA	brain:	n/a
19	chr12:123718369-123718419	IMR90	lung:	fetal
20	chr12:123756755-123756805	AG09319	gingival:	n/a
21	chr12:123717773-123717823	K562	blood:	n/a
22	chr12:123754071-123754121	BE2_C	brain:	n/a
23	chr12:123746176-123746226	HCM	heart:	n/a
24	chr12:123758853-123758903	HRPEpiC	eye:	n/a
25	chr12:123755247-123755297	ovcar-3	ovarian:	n/a
26	chr12:123757018-123757068	BJ	skin:	n/a
27	chr12:123750864-123750914	MCF-7	breast:	n/a
28	chr12:123757536-123757586	HUVEC	blood vessel:	n/a
29	chr12:123713553-123713603	LNCaP	prostate:	n/a
30	chr12:123717786-123717836	AG10803	skin:	n/a
31	chr12:123718298-123718348	NHDF-neo	bronchial:	n/a
32	chr12:123750864-123750914	SKMC	muscle:	n/a
33	chr12:123717786-123717836	SK-N-SH	brain:	n/a
34	chr12:123738291-123738341	GM19239	blood:	n/a
35	chr12:123753186-123753236	GM12891	blood:	n/a
36	chr12:123756945-123756995	AG10803	skin:	n/a
37	chr12:123755775-123755825	SK-N-SH_RA	brain:	n/a
38	chr12:123758853-123758903	AG04450	lung:	fetal
39	chr12:123717788-123717838	GM12892	blood:	n/a
40	chr12:123717050-123717100	SAEC	small airway:	n/a
41	chr12:123758006-123758056	NH-A	brain:	n/a
42	chr12:123757337-123757387	NHBE	bronchial:	n/a
43	chr12:123717984-123718034	ProgFib	skin:	n/a
44	chr12:123717984-123718034	AG09309	skin:	n/a
45	chr12:123756791-123756841	NB4	blood:	n/a
46	chr12:123757413-123757463	NH-A	brain:	n/a
47	chr12:123734136-123734186	Caco-2	colon:	n/a
48	chr12:123717773-123717823	HAEpiC	amniotic membrane:	n/a
49	chr12:123734136-123734186	PANC-1	pancreas:	n/a
50	chr12:123718047-123718097	HNPCEpiC	eye:	n/a

(count:223 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:
2	chr12:123755184..123757288-chr12:123772860..123774485,3	K562	blood:
3	chr1:210547214..210547754-chr12:123717301..123717877,2	Hela-S3	cervix:
4	chr12:123463210..123468211-chr12:123716151..123721062,7	MCF-7	breast:
5	chr12:123717025..123717552-chr17:74732935..74733759,2	Hela-S3	cervix:
6	chr12:123593239..123596148-chr12:123716066..123718804,3	K562	blood:
7	chr12:52446813..52447635-chr12:123716880..123717854,2	Hela-S3	cervix:
8	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
9	chr12:123735647..123738456-chr12:123742871..123745926,3	K562	blood:
10	chr12:123717439..123717975-chr17:56735922..56736859,2	Hela-S3	cervix:
11	chr12:123717082..123719698-chr12:123751267..123753093,2	K562	blood:
12	chr12:123779615..123782241-chr12:123799621..123801825,2	K562	blood:
13	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
14	chr12:123715385..123717743-chr12:123720225..123722840,2	MCF-7	breast:
15	chr12:123459319..123461474-chr12:123725544..123727402,2	MCF-7	breast:
16	chr12:123717391..123717932-chr5:36876032..36877000,2	Hela-S3	cervix:
17	chr12:123800441..123804487-chr12:123872716..123875619,3	MCF-7	breast:
18	chr12:123816261..123818234-chr12:123825532..123827888,2	K562	blood:
19	chr12:123717406..123718006-chr3:151986382..151986970,2	Hela-S3	cervix:
20	chr12:123717253..123719001-chr12:123746538..123748497,2	K562	blood:
21	chr12:123753500..123755086-chr12:124068992..124070507,2	MCF-7	breast:
22	chr12:123465824..123467766-chr12:123717384..123719608,2	MCF-7	breast:
23	chr12:123449701..123452611-chr12:123716445..123719411,3	K562	blood:
24	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
25	chr12:123449332..123452871-chr12:123717386..123719515,4	K562	blood:
26	chr12:123715079..123721002-chr12:123721919..123730378,16	K562	blood:
27	chr12:123792059..123795605-chr12:123796583..123800633,3	MCF-7	breast:
28	chr12:123717276..123717963-chr7:5569791..5570291,2	Hela-S3	cervix:
29	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
30	chr12:123632948..123634613-chr12:123717747..123719847,2	K562	blood:
31	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
32	chr12:123717061..123717754-chr9:77643240..77643995,2	Hela-S3	cervix:
33	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
34	chr12:123756182..123757104-chr14:78173946..78174895,2	NB4	blood:
35	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:
36	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
37	chr12:123754953..123756587-chr12:123771355..123773194,2	MCF-7	breast:
38	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
39	chr12:123754797..123757159-chr12:123801683..123804517,3	MCF-7	breast:
40	chr12:123733810..123737382-chr12:123754694..123758405,4	MCF-7	breast:
41	chr12:123808230..123810207-chr12:123820394..123822529,2	K562	blood:
42	chr12:123633130..123634910-chr12:123716201..123717715,2	K562	blood:
43	chr12:123755189..123757900-chr12:123812056..123815290,3	MCF-7	breast:
44	chr12:123737581..123740036-chr12:123741564..123743810,2	MCF-7	breast:
45	chr12:123717003..123717852-chr9:140135245..140136140,4	Hela-S3	cervix:
46	chr12:123478491..123480718-chr12:123715406..123717168,2	MCF-7	breast:
47	chr12:123715622..123719446-chr12:123735072..123738647,4	K562	blood:
48	chr12:123721738..123724481-chr12:123725404..123728310,3	K562	blood:
49	chr12:123717145..123718094-chr2:88315035..88316515,4	Hela-S3	cervix:
50	chr12:123717152..123717980-chr17:27895730..27896230,2	HCT-116	colon:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK2AP1-1	chr12:123743590-123743695	ENSG00000235423.4
2	lnc-SBNO1-1	chr12:123773656-123774230	ENSG00000270113.1
3	lnc-CDK2AP1-1	chr12:123745373-123745490	ENSG00000235423.4
4	lnc-CDK2AP1-1	chr12:123744821-123745050	ENSG00000235423.3
5	lnc-CDK2AP1-1	chr12:123745676-123746030	ENSG00000235423.4
6	lnc-CDK2AP1-1	chr12:123743590-123743695	ENSG00000235423.3
7	lnc-PITPNM2-1	chr12:123717622-123717648	NONHSAT031568
8	lnc-CDK2AP1-1	chr12:123744821-123745050	ENSG00000235423.4
9	lnc-CDK2AP1-1	chr12:123743590-123743695	ENSG00000235423.3
10	lnc-CDK2AP1-1	chr12:123743524-123743695	ENSG00000235423.3
11	lnc-CDK2AP1-1	chr12:123745676-123746030	ENSG00000235423.3
12	lnc-PITPNM2-1	chr12:123714584-123715069	NONHSAT031568
13	lnc-CDK2AP1-1	chr12:123744821-123744994	ENSG00000235423.3
14	lnc-CDK2AP1-1	chr12:123743295-123743477	ENSG00000235423.3
15	lnc-CDK2AP1-1	chr12:123744821-123745050	ENSG00000235423.3
16	lnc-CDK2AP1-1	chr12:123745373-123745490	ENSG00000235423.3
17	lnc-CDK2AP1-3	chr12:123728369-123728499	NONHSAT031570
18	lnc-CDK2AP1-1	chr12:123744821-123745050	ENSG00000235423.3
19	lnc-CDK2AP1-3	chr12:123725076-123725238	NONHSAT031570
20	lnc-CDK2AP1-1	chr12:123736577-123737089	ENSG00000235423.3
21	lnc-CDK2AP1-2	chr12:123776575-123776937	NONHSAT031579
22	lnc-CDK2AP1-1	chr12:123728734-123728786	ENSG00000235423.3
23	lnc-CDK2AP1-1	chr12:123736789-123737089	ENSG00000235423.4
24	lnc-C12orf65-1	chr12:123746607-123746949	ENSG00000269980.1
25	lnc-CDK2AP1-1	chr12:123745373-123745766	ENSG00000235423.3
26	lnc-CDK2AP1-1	chr12:123736789-123737089	ENSG00000235423.3
27	lnc-CDK2AP1-1	chr12:123743590-123743695	ENSG00000235423.3

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CDK2AP1	hsa-miR-21-5p	chr12:123745913-123745934

Variant related genes	Relation type
ENSG00000269980	TF binding region
MPHOSPH9	TF binding region
C12orf65	TF binding region
ENSG00000270113	TF binding region
CDK2AP1	TF binding region
RNA5SP375	TF binding region
ENSG00000235423	TF binding region
ENSG00000269980	CpG island
MPHOSPH9	CpG island
C12orf65	CpG island
ENSG00000270113	CpG island
CDK2AP1	CpG island
RNA5SP375	CpG island
ENSG00000235423	CpG island
ENSG00000139722	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000269980	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000199845	chromatin interactions
ENSG00000085276	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000104872	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000270113	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000196123	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000213977	chromatin interactions
ENSG00000181788	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000235423	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000127774	chromatin interactions
ENSG00000161618	chromatin interactions
ENSG00000065911	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000156017	chromatin interactions
ENSG00000100601	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000137824	chromatin interactions
ENSG00000072864	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000119705	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000154640	chromatin interactions
ENSG00000163132	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000255839	chromatin interactions
ENSG00000265526	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000167543	chromatin interactions
ENSG00000152601	chromatin interactions
ENSG00000207189	chromatin interactions
ENSG00000073584	chromatin interactions
ENSG00000183955	chromatin interactions
LIN28A	miRNA target sites
ZNF644	miRNA target sites
MIB1	miRNA target sites
GTF2I	miRNA target sites
MED13L	miRNA target sites

Extended variants
information (count: 4716 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4716 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1790104	chr12:123709409-123709410	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545072629	chr12:123709531-123709532	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188314262	chr12:123709570-123709571	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557790967	chr12:123709584-123709585	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145856309	chr12:123709612-123709613	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149016622	chr12:123709617-123709618	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181194974	chr12:123709635-123709636	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528788012	chr12:123709639-123709640	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547064763	chr12:123709721-123709722	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571649347	chr12:123709777-123709778	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs199934987	chr12:123709785-123709786	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs527470137	chr12:123709795-123709796	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs532684991	chr12:123709816-123709817	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551017760	chr12:123709817-123709818	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569770927	chr12:123709821-123709822	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537199690	chr12:123709822-123709823	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555382559	chr12:123709824-123709825	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567263139	chr12:123709826-123709827	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553100304	chr12:123709828-123709829	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534599634	chr12:123709831-123709832	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552576888	chr12:123709832-123709833	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577185484	chr12:123709849-123709850	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10846486	chr12:123709927-123709928	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs56225104	chr12:123709991-123709992	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200797188	chr12:123710004-123710005	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575759873	chr12:123710038-123710039	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546252034	chr12:123710147-123710148	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562859948	chr12:123710164-123710165	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377046015	chr12:123710286-123710287	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561467145	chr12:123710299-123710300	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1790096	chr12:123710364-123710365	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs561559064	chr12:123710381-123710382	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143023790	chr12:123710452-123710453	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185485662	chr12:123710560-123710561	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565293683	chr12:123710576-123710577	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532506345	chr12:123710658-123710659	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550797450	chr12:123710686-123710687	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78439023	chr12:123710689-123710690	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs190348333	chr12:123710698-123710699	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs139053381	chr12:123710701-123710702	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535343082	chr12:123710706-123710707	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs138695128	chr12:123710743-123710744	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs62878460	chr12:123710779-123710780	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs1626703	chr12:123710835-123710836	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs548810849	chr12:123710841-123710842	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs567100282	chr12:123711068-123711069	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs200868180	chr12:123711069-123711070	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs397952694	chr12:123711082-123711083	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs527893194	chr12:123711111-123711112	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs534619580	chr12:123711115-123711116	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4439 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
2	chr12:123637000-123713000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:123637200-123716400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:123650600-123716400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:123654200-123712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123654200-123715400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:123655000-123712000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:123674600-123713400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:123680600-123716600	Weak transcription	Colonic Mucosa	Colon
10	chr12:123684000-123709800	Strong transcription	Liver	Liver
11	chr12:123685400-123711600	Strong transcription	Fetal Stomach	stomach
12	chr12:123687200-123711600	Strong transcription	Fetal Intestine Small	intestine
13	chr12:123687800-123716600	Weak transcription	Gastric	stomach
14	chr12:123687800-123716600	Weak transcription	Pancreas	Pancrea
15	chr12:123687800-123717000	Weak transcription	Aorta	Aorta
16	chr12:123688000-123715200	Weak transcription	Fetal Heart	heart
17	chr12:123689600-123712200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:123690600-123710800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:123690800-123716000	Weak transcription	Psoas Muscle	Psoas
20	chr12:123694600-123716800	Weak transcription	Ovary	ovary
21	chr12:123696200-123709600	Strong transcription	Fetal Muscle Leg	muscle
22	chr12:123696200-123715000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:123696400-123710400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:123696400-123710600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:123696400-123711600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr12:123698400-123716600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:123698800-123713400	Weak transcription	Fetal Brain Male	brain
28	chr12:123699200-123716400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:123699200-123716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:123699400-123716400	Weak transcription	HSMM	muscle
31	chr12:123699600-123716400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:123699600-123716600	Weak transcription	Spleen	Spleen
33	chr12:123699600-123716600	Weak transcription	HSMMtube	muscle
34	chr12:123701200-123715200	Weak transcription	NHDF-Ad	bronchial
35	chr12:123701800-123709600	Strong transcription	Placenta	Placenta
36	chr12:123702400-123710000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:123702400-123710600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:123702600-123711600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:123702600-123715000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:123703000-123713200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:123703400-123715200	Weak transcription	Brain Angular Gyrus	brain
42	chr12:123703600-123712400	Weak transcription	Brain Germinal Matrix	brain
43	chr12:123703800-123709600	Strong transcription	K562	blood
44	chr12:123704600-123715600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:123705000-123716600	Weak transcription	Lung	lung
46	chr12:123705200-123716200	Weak transcription	NHEK	skin
47	chr12:123705600-123709800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:123705600-123710400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:123705800-123709600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr12:123706200-123710400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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