Variant report

Variant	nsv886109
Chromosome Location	chr6:68171159-68236491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:68203582-68203965	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:68203604-68203953	K562	blood:	n/a	n/a
3	CCNT2	chr6:68206186-68206462	K562	blood:	n/a	chr6:68206259-68206279
4	CEBPB	chr6:68182476-68182771	HepG2	liver:	n/a	chr6:68182587-68182600 chr6:68182589-68182600 chr6:68182587-68182598 chr6:68182587-68182600
5	CEBPB	chr6:68176817-68177041	K562	blood:	n/a	n/a
6	CEBPB	chr6:68182461-68182760	K562	blood:	n/a	chr6:68182587-68182600 chr6:68182589-68182600 chr6:68182587-68182598 chr6:68182587-68182600
7	CEBPB	chr6:68206148-68206425	K562	blood:	n/a	n/a
8	CEBPB	chr6:68182534-68182752	A549	lung:	n/a	chr6:68182587-68182600 chr6:68182589-68182600 chr6:68182587-68182598 chr6:68182587-68182600
9	CEBPD	chr6:68206036-68206605	K562	blood:	n/a	n/a
10	CEBPD	chr6:68206009-68206565	K562	blood:	n/a	n/a
11	CTCF	chr6:68196720-68196768	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr6:68195574-68195613	GM20000	blood:	n/a	n/a
13	CTCF	chr6:68218075-68218135	GM20000	blood:	n/a	n/a
14	CUX1	chr6:68183160-68183170	GM12878	blood:	n/a	n/a
15	CUX1	chr6:68206119-68206384	K562	blood:	n/a	n/a
16	CUX1	chr6:68203615-68203830	K562	blood:	n/a	n/a
17	E2F4	chr6:68189344-68189669	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr6:68173465-68174001	MCF10A-Er-Src	breast:	n/a	n/a
19	ELF1	chr6:68185710-68185914	K562	blood:	n/a	chr6:68185828-68185841
20	ELK1	chr6:68203753-68203758	GM12878	blood:	n/a	n/a
21	EP300	chr6:68206107-68206496	K562	blood:	n/a	n/a
22	FAM48A	chr6:68200396-68200559	GM12878	blood:	n/a	n/a
23	FOS	chr6:68203654-68203932	MCF10A-Er-Src	breast:	n/a	chr6:68203767-68203777
24	FOS	chr6:68190098-68190157	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXP2	chr6:68211609-68211998	SK-N-MC	brain:	n/a	n/a
26	GATA1	chr6:68205675-68206828	K562	blood:	n/a	chr6:68206261-68206270 chr6:68206259-68206271 chr6:68206262-68206279
27	GATA2	chr6:68206040-68206496	K562	blood:	n/a	chr6:68206261-68206270 chr6:68206259-68206271 chr6:68206262-68206279
28	GATA2	chr6:68206129-68206426	K562	blood:	n/a	chr6:68206261-68206270 chr6:68206259-68206271 chr6:68206262-68206279
29	GATA3	chr6:68206178-68206310	SH-SY5Y	brain:	n/a	chr6:68206261-68206270 chr6:68206259-68206271 chr6:68206262-68206279
30	GATA3	chr6:68199610-68199672	SH-SY5Y	brain:	n/a	n/a
31	HMGN3	chr6:68206177-68206463	K562	blood:	n/a	n/a
32	IRF1	chr6:68203597-68203944	K562	blood:	n/a	n/a
33	IRF1	chr6:68203590-68203851	K562	blood:	n/a	n/a
34	IRF1	chr6:68206242-68206361	K562	blood:	n/a	n/a
35	IRF1	chr6:68206090-68206135	K562	blood:	n/a	n/a
36	JUN	chr6:68213384-68213696	K562	blood:	n/a	n/a
37	JUN	chr6:68219927-68220115	K562	blood:	n/a	n/a
38	JUND	chr6:68228037-68228251	HepG2	liver:	n/a	n/a
39	MAFF	chr6:68203520-68204339	K562	blood:	n/a	chr6:68203766-68203784 chr6:68203765-68203779
40	MAFF	chr6:68181511-68181643	HepG2	liver:	n/a	n/a
41	MAFF	chr6:68203572-68203987	HepG2	liver:	n/a	chr6:68203766-68203784 chr6:68203765-68203779
42	MAFF	chr6:68200440-68200547	K562	blood:	n/a	n/a
43	MAFK	chr6:68203585-68203988	HepG2	liver:	n/a	chr6:68203765-68203779 chr6:68203767-68203783 chr6:68203767-68203782 chr6:68203772-68203783 chr6:68203764-68203780 chr6:68203772-68203783 chr6:68203762-68203782 chr6:68203766-68203776 chr6:68203769-68203778 chr6:68203771-68203782 chr6:68203766-68203775
44	MAFK	chr6:68203526-68204358	IMR90	lung:	n/a	chr6:68203765-68203779 chr6:68203767-68203783 chr6:68203767-68203782 chr6:68203772-68203783 chr6:68203764-68203780 chr6:68203772-68203783 chr6:68203762-68203782 chr6:68203766-68203776 chr6:68203769-68203778 chr6:68203771-68203782 chr6:68203766-68203775
45	MAFK	chr6:68181514-68181597	HepG2	liver:	n/a	n/a
46	MAFK	chr6:68232978-68233247	HepG2	liver:	n/a	n/a
47	MAFK	chr6:68233023-68233217	IMR90	lung:	n/a	n/a
48	MAFK	chr6:68203545-68204125	K562	blood:	n/a	chr6:68203765-68203779 chr6:68203767-68203783 chr6:68203767-68203782 chr6:68203772-68203783 chr6:68203764-68203780 chr6:68203772-68203783 chr6:68203762-68203782 chr6:68203766-68203776 chr6:68203769-68203778 chr6:68203771-68203782 chr6:68203766-68203775
49	MAFK	chr6:68203084-68204363	H1-hESC	embryonic stem cell:	n/a	chr6:68203765-68203779 chr6:68203767-68203783 chr6:68203767-68203782 chr6:68203772-68203783 chr6:68203764-68203780 chr6:68203772-68203783 chr6:68203762-68203782 chr6:68203766-68203776 chr6:68203769-68203778 chr6:68203771-68203782 chr6:68203766-68203775
50	MAFK	chr6:68203548-68204003	Hela-S3	cervix:	n/a	chr6:68203765-68203779 chr6:68203767-68203783 chr6:68203767-68203782 chr6:68203772-68203783 chr6:68203764-68203780 chr6:68203772-68203783 chr6:68203762-68203782 chr6:68203766-68203776 chr6:68203769-68203778 chr6:68203771-68203782 chr6:68203766-68203775

No.	Distal block	Cell Line	Cell type
1	chr6:68184037..68187227-chr6:68190203..68192968,3	K562	blood:
2	chr6:68207762..68209941-chr6:68211353..68213652,2	K562	blood:
3	chr6:68232238..68234249-chr6:68236363..68239045,2	K562	blood:
4	chr6:68170096..68172631-chr6:68173230..68175635,2	K562	blood:
5	chr6:68207762..68209941-chr6:68211353..68213652,2	K562	blood:
6	chr6:68220528..68222587-chr6:68227194..68229392,2	K562	blood:
7	chr6:68229092..68231885-chr6:68666851..68668450,2	K562	blood:
8	chr6:68220528..68222587-chr6:68227194..68229392,2	K562	blood:
9	chr6:68232238..68234249-chr6:68236363..68239045,2	K562	blood:
10	chr6:68170096..68172631-chr6:68173230..68175635,2	K562	blood:
11	chr6:68166848..68170482-chr6:68173830..68176877,3	K562	blood:
12	chr6:68184037..68187227-chr6:68190203..68192968,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAI3-8	chr6:68172396-68172434	NONHSAT113386
2	lnc-BAI3-8	chr6:68172696-68172760	NONHSAT113386
3	lnc-BAI3-8	chr6:68169681-68171236	NONHSAT113386

Variant related genes	Relation type
ENSG00000271111	TF binding region
RNA5SP208	TF binding region
ENSG00000271111	chromatin interactions

Extended variants
information (count: 325 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11751851	chr6:68171159-68171160	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145883715	chr6:68171163-68171164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs148152558	chr6:68171202-68171203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532107048	chr6:68171222-68171223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs73445304	chr6:68171229-68171230	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570902712	chr6:68172402-68172403	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs539898113	chr6:68172411-68172412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs148675842	chr6:68172424-68172425	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs541383937	chr6:68172720-68172721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs377135542	chr6:68172724-68172725	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs117899808	chr6:68172726-68172727	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs116455329	chr6:68173860-68173861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535161523	chr6:68173870-68173871	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138331907	chr6:68173892-68173893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575214379	chr6:68173919-68173920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149205534	chr6:68173989-68173990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558472739	chr6:68173990-68173991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs578250039	chr6:68173998-68173999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540859207	chr6:68174001-68174002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560655707	chr6:68174011-68174012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375461311	chr6:68174020-68174021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574252418	chr6:68174070-68174071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563733136	chr6:68174081-68174082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543130641	chr6:68174146-68174147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562795776	chr6:68174167-68174168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113311528	chr6:68174192-68174193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73743636	chr6:68174209-68174210	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564452448	chr6:68174212-68174213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546535781	chr6:68174233-68174234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs72881461	chr6:68174253-68174254	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543884291	chr6:68174254-68174255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546422986	chr6:68174259-68174260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374198837	chr6:68174273-68174274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368526853	chr6:68174313-68174314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs180977711	chr6:68174343-68174344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373178758	chr6:68174354-68174355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535243114	chr6:68174366-68174367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114354443	chr6:68174373-68174374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568816462	chr6:68174399-68174400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537896724	chr6:68174404-68174405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557449806	chr6:68174422-68174423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143352366	chr6:68174471-68174472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114596417	chr6:68174549-68174550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558534603	chr6:68174554-68174555	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554479209	chr6:68174571-68174572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372513084	chr6:68174605-68174606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542814106	chr6:68174606-68174607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563039528	chr6:68174627-68174628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148341312	chr6:68174664-68174665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376153400	chr6:68174676-68174677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68205600-68206000	Enhancers	K562	blood
2	chr6:68206400-68207000	Active TSS	Fetal Heart	heart
3	chr6:68210600-68212000	Enhancers	Aorta	Aorta
4	chr6:68211600-68211800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:68211600-68212000	Active TSS	K562	blood
6	chr6:68211800-68212000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:68218400-68218800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:68236200-68236400	ZNF genes & repeats	Pancreas	Pancrea
9	chr6:68236400-68238800	Weak transcription	Pancreas	Pancrea

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