Variant report

Variant	esv3324060
Chromosome Location	chr1:154285512-154294340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:305)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 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	ARID3A	chr1:154285535-154285734	K562	blood:	n/a	n/a
2	ATF1	chr1:154285557-154285870	K562	blood:	n/a	n/a
3	ATF1	chr1:154293284-154293783	K562	blood:	n/a	n/a
4	ATF3	chr1:154285521-154285756	K562	blood:	n/a	n/a
5	ATF3	chr1:154285510-154285722	K562	blood:	n/a	n/a
6	BHLHE40	chr1:154293336-154293645	HepG2	liver:	n/a	n/a
7	BHLHE40	chr1:154293222-154293758	K562	blood:	n/a	n/a
8	BHLHE40	chr1:154285411-154285839	K562	blood:	n/a	n/a
9	CBX3	chr1:154293099-154293868	K562	blood:	n/a	n/a
10	CBX3	chr1:154289208-154289559	K562	blood:	n/a	n/a
11	CBX3	chr1:154285407-154285836	K562	blood:	n/a	n/a
12	CBX3	chr1:154289078-154289617	K562	blood:	n/a	n/a
13	CBX3	chr1:154285429-154285740	K562	blood:	n/a	n/a
14	CBX3	chr1:154293368-154293672	K562	blood:	n/a	n/a
15	CCNT2	chr1:154293352-154293729	K562	blood:	n/a	n/a
16	CCNT2	chr1:154285516-154285789	K562	blood:	n/a	n/a
17	CEBPB	chr1:154293259-154293745	K562	blood:	n/a	n/a
18	CEBPB	chr1:154287162-154287240	HepG2	liver:	n/a	chr1:154287195-154287206
19	CEBPB	chr1:154293272-154293656	K562	blood:	n/a	n/a
20	CEBPD	chr1:154293244-154293693	K562	blood:	n/a	n/a
21	CEBPD	chr1:154285240-154285895	K562	blood:	n/a	n/a
22	CEBPD	chr1:154285530-154285919	K562	blood:	n/a	n/a
23	CEBPD	chr1:154293235-154293819	K562	blood:	n/a	n/a
24	CHD2	chr1:154285683-154285816	K562	blood:	n/a	n/a
25	CTCF	chr1:154293529-154293676	K562	blood:	n/a	n/a
26	CTCF	chr1:154293460-154293610	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr1:154293480-154293630	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr1:154286260-154286410	GM12865	blood:	n/a	n/a
29	CTCF	chr1:154293360-154293510	BE2_C	brain:	n/a	n/a
30	CTCF	chr1:154293500-154293650	HCM	heart:	n/a	n/a
31	CTCF	chr1:154293540-154293690	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr1:154293480-154293630	K562	blood:	n/a	n/a
33	CTCF	chr1:154293440-154293590	K562	blood:	n/a	n/a
34	CTCF	chr1:154293540-154293690	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr1:154293327-154293760	K562	blood:	n/a	n/a
36	CTCF	chr1:154293520-154293670	Caco-2	colon:	n/a	n/a
37	CTCF	chr1:154293418-154293742	K562	blood:	n/a	n/a
38	CTCF	chr1:154293471-154293719	K562	blood:	n/a	n/a
39	CTCF	chr1:154293440-154293590	BE2_C	brain:	n/a	n/a
40	CTCF	chr1:154293460-154293610	HCM	heart:	n/a	n/a
41	CTCF	chr1:154293460-154293610	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr1:154292312-154292328	LNCaP	prostate:	n/a	n/a
43	CTCF	chr1:154293600-154293750	SAEC	small airway:	n/a	n/a
44	CTCF	chr1:154293550-154293669	NHEK	skin:	n/a	n/a
45	CTCF	chr1:154293480-154293630	HCFaa	heart:	n/a	n/a
46	CTCF	chr1:154293540-154293690	Caco-2	colon:	n/a	n/a
47	CTCF	chr1:154293460-154293610	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr1:154293480-154293630	SAEC	small airway:	n/a	n/a
49	CUX1	chr1:154285617-154285893	K562	blood:	n/a	n/a
50	E2F6	chr1:154293357-154293594	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154292240-154292290	Caco-2	colon:	n/a
2	chr1:154293482-154293532	GM12892	blood:	n/a
3	chr1:154293482-154293532	NH-A	brain:	n/a
4	chr1:154293494-154293544	Caco-2	colon:	n/a
5	chr1:154293494-154293544	HUVEC	blood vessel:	n/a
6	chr1:154292429-154292479	H1-hESC	embryonic stem cell:	embryo
7	chr1:154293651-154293701	HepG2	liver:	n/a
8	chr1:154293494-154293544	H1-hESC	embryonic stem cell:	embryo
9	chr1:154293494-154293544	ovcar-3	ovarian:	n/a
10	chr1:154292240-154292290	LNCaP	prostate:	n/a
11	chr1:154293482-154293532	HCT-116	colon:	n/a
12	chr1:154293651-154293701	Hepatocyte	liver:	n/a
13	chr1:154292429-154292479	A549	lung:	n/a
14	chr1:154293482-154293532	GM12891	blood:	n/a
15	chr1:154293651-154293701	HRPEpiC	eye:	n/a
16	chr1:154292240-154292290	NT2-D1	testis:	n/a
17	chr1:154293494-154293544	GM12878	blood:	n/a
18	chr1:154292240-154292290	Jurkat	blood:	n/a
19	chr1:154293482-154293532	MCF10A-Er-Src	breast:	n/a
20	chr1:154292429-154292479	NH-A	brain:	n/a
21	chr1:154292240-154292290	AG10803	skin:	n/a
22	chr1:154293494-154293544	RPTEC	kidney:	n/a
23	chr1:154292429-154292479	HNPCEpiC	eye:	n/a
24	chr1:154292429-154292479	RPTEC	kidney:	n/a
25	chr1:154293482-154293532	HepG2	liver:	n/a
26	chr1:154292429-154292479	GM12878	blood:	n/a
27	chr1:154293494-154293544	HCT-116	colon:	n/a
28	chr1:154292240-154292290	PANC-1	pancreas:	n/a
29	chr1:154293651-154293701	NH-A	brain:	n/a
30	chr1:154293494-154293544	HCPEpiC	choroid plexus:	n/a
31	chr1:154292429-154292479	BE2_C	brain:	n/a
32	chr1:154293651-154293701	HL-60	blood:	n/a
33	chr1:154293494-154293544	GM06990	blood:	n/a
34	chr1:154293651-154293701	Jurkat	blood:	n/a
35	chr1:154293651-154293701	HIPEpiC	eye:	n/a
36	chr1:154293494-154293544	GM12892	blood:	n/a
37	chr1:154293651-154293701	SK-N-SH_RA	brain:	n/a
38	chr1:154293494-154293544	CMK	blood:	n/a
39	chr1:154292429-154292479	HCT-116	colon:	n/a
40	chr1:154293651-154293701	MCF10A-Er-Src	breast:	n/a
41	chr1:154292240-154292290	HCF	heart:	n/a
42	chr1:154293651-154293701	IMR90	lung:	fetal
43	chr1:154293651-154293701	HRE	kidney:	n/a
44	chr1:154293482-154293532	IMR90	lung:	fetal
45	chr1:154293482-154293532	H1-hESC	embryonic stem cell:	embryo
46	chr1:154293494-154293544	IMR90	lung:	fetal
47	chr1:154293651-154293701	T-47D	breast:	n/a
48	chr1:154293482-154293532	HUVEC	blood vessel:	n/a
49	chr1:154292240-154292290	MCF10A-Er-Src	breast:	n/a
50	chr1:154292429-154292479	AG09309	skin:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154243817..154246754-chr1:154291993..154294660,2	K562	blood:
2	chr1:154287444..154289281-chr1:154292176..154294886,2	K562	blood:
3	chr1:154281131..154283820-chr1:154289105..154291104,2	K562	blood:
4	chr1:154284257..154286671-chr1:154296308..154298669,2	K562	blood:
5	chr1:154276282..154279184-chr1:154290094..154291689,2	MCF-7	breast:
6	chr1:154192079..154194850-chr1:154292071..154294843,2	K562	blood:
7	chr1:154154218..154156961-chr1:154294191..154296941,2	MCF-7	breast:
8	chr1:154280303..154282360-chr1:154284259..154286471,2	K562	blood:
9	chr1:154293042..154295327-chr1:154297413..154299149,2	MCF-7	breast:
10	chr1:154191507..154194106-chr1:154288647..154290848,2	MCF-7	breast:
11	chr1:154287410..154289195-chr1:154297547..154300430,2	MCF-7	breast:
12	chr1:154279116..154280674-chr1:154289463..154291852,2	K562	blood:

No data

Variant related genes	Relation type
ATP8B2	TF binding region
AQP10	TF binding region
ATP8B2	CpG island
AQP10	CpG island
ENSG00000143612	chromatin interactions
ENSG00000143515	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000143575	chromatin interactions
ENSG00000143595	chromatin interactions
ENSG00000143569	chromatin interactions

Extended variants
information (count: 368 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7514795	chr1:154285522-154285523	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538156870	chr1:154285526-154285527	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556153845	chr1:154285568-154285569	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111962194	chr1:154285590-154285591	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542231725	chr1:154285597-154285598	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142079892	chr1:154285610-154285611	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144763637	chr1:154285615-154285616	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148560061	chr1:154285621-154285622	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141984557	chr1:154285622-154285623	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150696885	chr1:154285689-154285690	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117031946	chr1:154285701-154285702	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141055923	chr1:154285711-154285712	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185289230	chr1:154285721-154285722	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529681532	chr1:154285746-154285747	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144178239	chr1:154285747-154285748	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559670844	chr1:154285751-154285752	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527393334	chr1:154285752-154285753	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191135037	chr1:154285796-154285797	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147783476	chr1:154285804-154285805	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537619896	chr1:154285806-154285807	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550086619	chr1:154285833-154285834	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568356076	chr1:154285835-154285836	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183315867	chr1:154285880-154285881	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139550964	chr1:154285894-154285895	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544423627	chr1:154285954-154285955	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572430458	chr1:154285960-154285961	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71584199	chr1:154285975-154285976	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539939713	chr1:154286013-154286014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557943373	chr1:154286032-154286033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576605541	chr1:154286049-154286050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543645054	chr1:154286090-154286091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562090368	chr1:154286101-154286102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573995761	chr1:154286111-154286112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187560886	chr1:154286125-154286126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191462834	chr1:154286144-154286145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527263264	chr1:154286199-154286200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560948145	chr1:154286245-154286246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs115244273	chr1:154286256-154286257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564007601	chr1:154286276-154286277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531578234	chr1:154286288-154286289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549710510	chr1:154286298-154286299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568216498	chr1:154286307-154286308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73020693	chr1:154286321-154286322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs67597142	chr1:154286361-154286362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566103422	chr1:154286409-154286410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539429367	chr1:154286452-154286453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558266080	chr1:154286453-154286454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373693638	chr1:154286461-154286462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200709530	chr1:154286463-154286464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117744355	chr1:154286566-154286567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154282000-154293400	Weak transcription	Right Atrium	heart
2	chr1:154284800-154286000	Flanking Active TSS	K562	blood
3	chr1:154285400-154285800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:154286000-154287000	Enhancers	K562	blood
5	chr1:154286600-154287000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:154287000-154292200	Weak transcription	K562	blood
7	chr1:154287400-154287600	Enhancers	HepG2	liver
8	chr1:154287600-154293200	Weak transcription	HepG2	liver
9	chr1:154290400-154297000	Weak transcription	Thymus	Thymus
10	chr1:154290800-154291000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:154290800-154291000	Enhancers	Hela-S3	cervix
12	chr1:154292200-154293200	Enhancers	K562	blood
13	chr1:154292800-154293600	Enhancers	Fetal Intestine Small	intestine
14	chr1:154293000-154293200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:154293000-154293400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:154293000-154293400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:154293000-154293400	Enhancers	NHEK	skin
18	chr1:154293000-154294000	Enhancers	Fetal Heart	heart
19	chr1:154293000-154294000	Enhancers	Stomach Mucosa	stomach
20	chr1:154293000-154294800	Enhancers	Fetal Intestine Large	intestine
21	chr1:154293200-154293400	Enhancers	HepG2	liver
22	chr1:154293200-154293600	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:154293200-154293600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:154293200-154293800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:154293200-154293800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:154293200-154293800	Enhancers	Right Ventricle	heart
27	chr1:154293200-154293800	Flanking Active TSS	K562	blood
28	chr1:154293200-154294000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:154293200-154294800	Enhancers	Duodenum Mucosa	Duodenum
30	chr1:154293400-154293600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:154293400-154293600	Enhancers	Gastric	stomach
32	chr1:154293400-154293600	Flanking Active TSS	HepG2	liver
33	chr1:154293400-154293600	Enhancers	HMEC	breast
34	chr1:154293400-154293800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:154293400-154293800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:154293400-154293800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:154293400-154293800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:154293400-154293800	Enhancers	Fetal Thymus	thymus
39	chr1:154293400-154293800	Enhancers	Left Ventricle	heart
40	chr1:154293400-154293800	Enhancers	Pancreas	Pancrea
41	chr1:154293400-154293800	Enhancers	Right Atrium	heart
42	chr1:154293400-154293800	Enhancers	Spleen	Spleen
43	chr1:154293400-154293800	Flanking Active TSS	NHEK	skin
44	chr1:154293600-154293800	Enhancers	Esophagus	oesophagus
45	chr1:154293600-154293800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr1:154293600-154293800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr1:154293600-154293800	Enhancers	HepG2	liver
48	chr1:154293600-154293800	Bivalent Enhancer	HUVEC	blood vessel
49	chr1:154293600-154294000	Active TSS	Fetal Intestine Small	intestine
50	chr1:154293600-154294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links