Variant report

Variant	nsv973128
Chromosome Location	chr12:120635459-120637245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:216)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:216 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:120635149-120635617	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr12:120636971-120639731	IMR90	lung:	n/a	n/a
3	CHD1	chr12:120637004-120639322	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr12:120636500-120636650	A549	lung:	n/a	n/a
5	CTCF	chr12:120636895-120637314	T-47D	breast:	n/a	n/a
6	CTCF	chr12:120636201-120636574	T-47D	breast:	n/a	n/a
7	EBF1	chr12:120636619-120636879	GM12878	blood:	n/a	n/a
8	EP300	chr12:120636879-120637367	T-47D	breast:	n/a	chr12:120637319-120637333
9	EP300	chr12:120636124-120636648	T-47D	breast:	n/a	n/a
10	GATA3	chr12:120636957-120637380	T-47D	breast:	n/a	chr12:120637321-120637331
11	HCFC1	chr12:120637009-120639736	Hela-S3	cervix:	n/a	n/a
12	HEY1	chr12:120634275-120635627	K562	blood:	n/a	n/a
13	HEY1	chr12:120635680-120639556	K562	blood:	n/a	n/a
14	HEY1	chr12:120635715-120635982	K562	blood:	n/a	n/a
15	HEY1	chr12:120635734-120635940	HepG2	liver:	n/a	n/a
16	HEY1	chr12:120636156-120637525	HepG2	liver:	n/a	n/a
17	HEY1	chr12:120636162-120637448	K562	blood:	n/a	n/a
18	HEY1	chr12:120632022-120635678	K562	blood:	n/a	chr12:120632300-120632315 chr12:120632461-120632476 chr12:120632302-120632317
19	HEY1	chr12:120636057-120638020	HepG2	liver:	n/a	n/a
20	HEY1	chr12:120634615-120635677	HepG2	liver:	n/a	n/a
21	HEY1	chr12:120634508-120635667	HepG2	liver:	n/a	n/a
22	MAFF	chr12:120635307-120635716	K562	blood:	n/a	n/a
23	MAX	chr12:120636224-120636608	K562	blood:	n/a	n/a
24	MBD4	chr12:120636775-120637261	HepG2	liver:	n/a	n/a
25	MTA3	chr12:120636700-120639440	GM12878	blood:	n/a	n/a
26	MXI1	chr12:120636976-120637908	K562	blood:	n/a	n/a
27	MXI1	chr12:120637087-120639549	IMR90	lung:	n/a	n/a
28	PML	chr12:120632031-120635797	GM12878	blood:	n/a	chr12:120633279-120633287
29	PML	chr12:120634636-120635694	K562	blood:	n/a	n/a
30	PML	chr12:120637105-120639734	GM12878	blood:	n/a	n/a
31	PML	chr12:120632133-120635684	K562	blood:	n/a	chr12:120633279-120633287
32	PML	chr12:120636084-120637114	K562	blood:	n/a	n/a
33	POLR2A	chr12:120631746-120635550	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:120636151-120638027	GM12891	blood:	n/a	n/a
35	POLR2A	chr12:120634652-120635614	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr12:120636994-120637446	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:120636666-120637296	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:120635609-120639934	K562	blood:	n/a	n/a
39	POLR2A	chr12:120632301-120639241	K562	blood:	n/a	n/a
40	POLR2A	chr12:120636111-120636713	K562	blood:	n/a	n/a
41	POLR2A	chr12:120636372-120639631	GM18505	blood:	n/a	n/a
42	POLR2A	chr12:120636042-120639720	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr12:120636976-120636993	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:120636111-120637525	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:120632286-120635888	K562	blood:	n/a	n/a
46	POLR2A	chr12:120636204-120639506	MCF-7	breast:	n/a	n/a
47	POLR2A	chr12:120636995-120637270	ProgFib	skin:	n/a	n/a
48	POLR2A	chr12:120635800-120635814	MCF-7	breast:	n/a	n/a
49	POLR2A	chr12:120632029-120639863	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr12:120632048-120640230	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120637158-120637208	BE2_C	brain:	n/a
2	chr12:120637158-120637208	LNCaP	prostate:	n/a
3	chr12:120637158-120637208	H1-hESC	embryonic stem cell:	embryo
4	chr12:120637158-120637208	IMR90	lung:	fetal
5	chr12:120637158-120637208	PFSK-1	brain:	n/a
6	chr12:120637158-120637208	HIPEpiC	eye:	n/a
7	chr12:120637158-120637208	AoSMC	blood vessel:	n/a
8	chr12:120637158-120637208	NB4	blood:	n/a
9	chr12:120637158-120637208	HCPEpiC	choroid plexus:	n/a
10	chr12:120637158-120637208	HepG2	liver:	n/a
11	chr12:120637158-120637208	Hela-S3	cervix:	n/a
12	chr12:120637158-120637208	HRPEpiC	eye:	n/a
13	chr12:120637158-120637208	SK-N-MC	brain:	n/a
14	chr12:120637158-120637208	ECC-1	luminal epithelium:	n/a
15	chr12:120637158-120637208	HUVEC	blood vessel:	n/a
16	chr12:120637158-120637208	SK-N-SH	brain:	n/a
17	chr12:120637158-120637208	SAEC	small airway:	n/a
18	chr12:120637158-120637208	GM19239	blood:	n/a
19	chr12:120637158-120637208	HRCEpiC	kidney:	n/a
20	chr12:120637158-120637208	SK-N-SH_RA	brain:	n/a
21	chr12:120637158-120637208	GM12878	blood:	n/a
22	chr12:120637158-120637208	ProgFib	skin:	n/a
23	chr12:120637158-120637208	PANC-1	pancreas:	n/a
24	chr12:120637158-120637208	ovcar-3	ovarian:	n/a
25	chr12:120637158-120637208	HL-60	blood:	n/a
26	chr12:120637158-120637208	MCF10A-Er-Src	breast:	n/a
27	chr12:120637158-120637208	AG09309	skin:	n/a
28	chr12:120637158-120637208	GM06990	blood:	n/a
29	chr12:120637158-120637208	GM12892	blood:	n/a
30	chr12:120637158-120637208	K562	blood:	n/a
31	chr12:120637158-120637208	T-47D	breast:	n/a
32	chr12:120637158-120637208	HEEpiC	esophagus:	n/a
33	chr12:120637158-120637208	NHDF-neo	bronchial:	n/a
34	chr12:120637158-120637208	HAEpiC	amniotic membrane:	n/a
35	chr12:120637158-120637208	HCM	heart:	n/a
36	chr12:120637158-120637208	BJ	skin:	n/a
37	chr12:120637158-120637208	HCT-116	colon:	n/a
38	chr12:120637158-120637208	PrEC	prostate:	n/a
39	chr12:120637158-120637208	MCF-7	breast:	n/a
40	chr12:120637158-120637208	AG04450	lung:	fetal
41	chr12:120637158-120637208	U87	brain:	n/a
42	chr12:120637158-120637208	AG10803	skin:	n/a
43	chr12:120637158-120637208	HMEC	breast:	n/a
44	chr12:120637158-120637208	Jurkat	blood:	n/a
45	chr12:120637158-120637208	HEK293	kidney:	embryo
46	chr12:120637158-120637208	HNPCEpiC	eye:	n/a
47	chr12:120637158-120637208	Hepatocyte	liver:	n/a
48	chr12:120637158-120637208	A549	lung:	n/a
49	chr12:120637158-120637208	NT2-D1	testis:	n/a
50	chr12:120637158-120637208	NH-A	brain:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120554994..120557100-chr12:120637245..120639085,2	MCF-7	breast:
2	chr12:120552903..120558662-chr12:120635855..120639972,12	MCF-7	breast:
3	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
4	chr12:120636894..120638425-chr19:51313714..51316049,2	K562	blood:
5	chr12:120575987..120578062-chr12:120634816..120636487,2	K562	blood:
6	chr12:120631139..120640506-chr12:120724902..120734482,54	K562	blood:
7	chr12:120636466..120640337-chr12:120966729..120969535,3	MCF-7	breast:
8	chr12:120636494..120638550-chr12:120756430..120759190,2	MCF-7	breast:
9	chr12:120635810..120640156-chr12:120882395..120885946,4	K562	blood:
10	chr12:120628211..120641965-chr12:120660551..120674110,39	K562	blood:
11	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
12	chr12:120633014..120635461-chr17:64959552..64961225,2	MCF-7	breast:
13	chr12:120574814..120578175-chr12:120636472..120639249,3	MCF-7	breast:
14	chr12:120636290..120639093-chr17:59486664..59489640,2	MCF-7	breast:
15	chr12:120634142..120641127-chr12:120698850..120705439,14	K562	blood:
16	chr12:120628864..120642103-chr12:120725347..120732286,54	K562	blood:
17	chr12:120604047..120606522-chr12:120634932..120636493,2	MCF-7	breast:
18	chr12:120591212..120593499-chr12:120637198..120638794,2	MCF-7	breast:
19	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
20	chr12:120553041..120557313-chr12:120636619..120640383,10	K562	blood:

No data

Variant related genes	Relation type
GCN1L1	TF binding region
RPLP0	TF binding region
PXN-AS1	TF binding region
GCN1L1	CpG island
RPLP0	CpG island
PXN-AS1	CpG island
ENSG00000111737	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000170855	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000123009	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000075461	chromatin interactions
ENSG00000266704	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000200795	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193030823	chr12:120635497-120635498	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs138654202	chr12:120635503-120635504	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs61311973	chr12:120635512-120635513	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs149316368	chr12:120635538-120635539	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs550444546	chr12:120635547-120635548	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs570268222	chr12:120635553-120635554	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs184242008	chr12:120635559-120635560	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs75001099	chr12:120635589-120635590	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs566215257	chr12:120635612-120635613	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs535049942	chr12:120635623-120635624	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs188573174	chr12:120635647-120635648	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs148466198	chr12:120635691-120635692	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs570610648	chr12:120635718-120635719	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs201124742	chr12:120635738-120635739	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs57937300	chr12:120635739-120635740	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs556986908	chr12:120635747-120635748	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs528888750	chr12:120635749-120635750	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs545645031	chr12:120635754-120635755	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs144095948	chr12:120635780-120635781	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs528352633	chr12:120635809-120635810	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs369813826	chr12:120635810-120635811	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs7299429	chr12:120635847-120635848	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561664615	chr12:120635875-120635876	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs548755173	chr12:120635891-120635892	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs181194598	chr12:120635924-120635925	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs376681062	chr12:120635964-120635965	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs570528542	chr12:120635972-120635973	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs371780645	chr12:120635973-120635974	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs532766260	chr12:120636011-120636012	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs145978444	chr12:120636013-120636014	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs552476066	chr12:120636044-120636045	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs3742040	chr12:120636048-120636049	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535000887	chr12:120636056-120636057	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs12099681	chr12:120636112-120636113	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373895955	chr12:120636118-120636119	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs568114402	chr12:120636119-120636120	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs537006577	chr12:120636129-120636130	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs557050265	chr12:120636136-120636137	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs577237279	chr12:120636168-120636169	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs557737527	chr12:120636183-120636184	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs539647911	chr12:120636199-120636200	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs78225008	chr12:120636205-120636206	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs59907493	chr12:120636207-120636208	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs372882389	chr12:120636232-120636233	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs568651787	chr12:120636237-120636238	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs552876317	chr12:120636276-120636277	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs573139887	chr12:120636279-120636280	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs201156012	chr12:120636326-120636327	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs151136387	chr12:120636327-120636328	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs113815589	chr12:120636365-120636366	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Autism	22495311	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
Sudden cardiac death	19188705	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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120633000-120637200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:120633000-120637800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:120633200-120635800	Weak transcription	Right Atrium	heart
4	chr12:120633200-120636200	Genic enhancers	NHLF	lung
5	chr12:120633200-120638400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:120633400-120635800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:120633400-120636200	Genic enhancers	Adipose Nuclei	Adipose
8	chr12:120633400-120636200	Strong transcription	Fetal Lung	lung
9	chr12:120633400-120636400	Weak transcription	Fetal Brain Male	brain
10	chr12:120633400-120636800	Strong transcription	Fetal Stomach	stomach
11	chr12:120633400-120637200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:120633400-120637600	Genic enhancers	Liver	Liver
13	chr12:120633600-120635800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr12:120633600-120636000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:120633600-120636200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:120633600-120636200	Genic enhancers	HMEC	breast
17	chr12:120633600-120636400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:120633600-120636400	Strong transcription	Lung	lung
19	chr12:120633600-120637000	Genic enhancers	Fetal Thymus	thymus
20	chr12:120633600-120638000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr12:120633600-120638200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:120633800-120635800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:120633800-120635800	Strong transcription	Spleen	Spleen
24	chr12:120633800-120636200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:120633800-120636200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:120633800-120636200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:120633800-120636200	Strong transcription	Fetal Muscle Leg	muscle
28	chr12:120633800-120636200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr12:120633800-120636200	Strong transcription	Small Intestine	intestine
30	chr12:120633800-120636200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:120633800-120636200	Strong transcription	Thymus	Thymus
32	chr12:120633800-120636400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:120633800-120636400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr12:120633800-120636400	Genic enhancers	HepG2	liver
35	chr12:120633800-120636600	Strong transcription	Colonic Mucosa	Colon
36	chr12:120633800-120636800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:120633800-120636800	Strong transcription	Brain Anterior Caudate	brain
38	chr12:120633800-120636800	Strong transcription	Brain Hippocampus Middle	brain
39	chr12:120633800-120636800	Strong transcription	Fetal Intestine Large	intestine
40	chr12:120633800-120637200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:120633800-120637400	Strong transcription	Fetal Kidney	kidney
42	chr12:120633800-120637600	Genic enhancers	Placenta	Placenta
43	chr12:120633800-120638600	Transcr. at gene 5' and 3'	K562	blood
44	chr12:120634000-120635800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:120634000-120635800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:120634000-120636200	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr12:120634000-120636200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr12:120634000-120636200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:120634000-120636200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:120634000-120636200	Strong transcription	Duodenum Mucosa	Duodenum

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