Variant report

Variant	nsv971286
Chromosome Location	chr8:11777476-11787599
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	BCL11A	chr8:11783650-11783829	GM12878	blood:	n/a	n/a
2	CTCF	chr8:11781315-11781339	GM13977	blood:	n/a	n/a
3	EP300	chr8:11783772-11783934	GM12878	blood:	n/a	n/a
4	FOS	chr8:11785678-11786046	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr8:11785685-11785966	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr8:11785678-11786047	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXM1	chr8:11783651-11784068	GM12878	blood:	n/a	n/a
8	IKZF1	chr8:11783761-11783935	GM12878	blood:	n/a	n/a
9	NFIC	chr8:11783564-11784056	GM12878	blood:	n/a	n/a
10	PAX5	chr8:11783667-11783868	GM12878	blood:	n/a	n/a
11	PAX5	chr8:11783571-11783989	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:11786813-11786836	MCF-7	breast:	n/a	n/a
13	POU2F2	chr8:11783608-11783964	GM12878	blood:	n/a	n/a
14	RUNX3	chr8:11783589-11784028	GM12878	blood:	n/a	n/a
15	RUNX3	chr8:11783623-11783955	GM12878	blood:	n/a	n/a
16	STAT3	chr8:11785747-11786082	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr8:11785745-11786092	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr8:11785747-11786100	MCF10A-Er-Src	breast:	n/a	n/a
19	TCF12	chr8:11783602-11783956	GM12878	blood:	n/a	n/a
20	TCF12	chr8:11783643-11783824	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTSB-2	chr8:11777409-11778318	NONHSAT125102

Variant related genes	Relation type
OR7E161P	TF binding region
OR7E158P	TF binding region

Extended variants
information (count: 527 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537867341	chr8:11777476-11777477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs73663050	chr8:11777481-11777482	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181396480	chr8:11777545-11777546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs377730573	chr8:11777549-11777550	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs186544361	chr8:11777580-11777581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546159142	chr8:11777589-11777590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs6986166	chr8:11777602-11777603	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139079447	chr8:11777616-11777617	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs561614531	chr8:11777622-11777623	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs182338372	chr8:11777629-11777630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs528951026	chr8:11777659-11777660	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs528761398	chr8:11777674-11777675	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs550330470	chr8:11777682-11777683	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs562098333	chr8:11777683-11777684	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs533067419	chr8:11777694-11777695	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs9771686	chr8:11777696-11777697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs566377920	chr8:11777718-11777719	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs185129444	chr8:11777740-11777741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs549126962	chr8:11777745-11777746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs9329250	chr8:11777764-11777765	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538290811	chr8:11777799-11777800	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs199945046	chr8:11777804-11777805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs57678189	chr8:11777808-11777809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs75568540	chr8:11777819-11777820	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs371142846	chr8:11777838-11777839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs374504894	chr8:11777839-11777840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs6987692	chr8:11777849-11777850	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs578060477	chr8:11777855-11777856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs200005066	chr8:11777859-11777860	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs539385610	chr8:11777880-11777881	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs7463895	chr8:11777884-11777885	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs191119988	chr8:11777887-11777888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs201991263	chr8:11777895-11777896	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs7464553	chr8:11777901-11777902	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs573658599	chr8:11777904-11777905	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs6986668	chr8:11777921-11777922	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562186790	chr8:11777964-11777965	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs7461273	chr8:11777977-11777978	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs551295470	chr8:11778018-11778019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs201082402	chr8:11778032-11778033	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs560029973	chr8:11778036-11778037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs527553436	chr8:11778038-11778039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs202235340	chr8:11778053-11778054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs147614038	chr8:11778054-11778055	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs537991733	chr8:11778063-11778064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs550293182	chr8:11778072-11778073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs571694489	chr8:11778101-11778102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs183918840	chr8:11778138-11778139	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs554176818	chr8:11778177-11778178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs566267400	chr8:11778188-11778189	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11779000-11780000	Enhancers	Placenta	Placenta
2	chr8:11781000-11781200	Enhancers	NHEK	skin
3	chr8:11783600-11783800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:11783600-11784000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:11783600-11784600	Enhancers	Dnd41	blood
6	chr8:11783600-11785000	Enhancers	HMEC	breast
7	chr8:11783600-11787000	Enhancers	NHEK	skin
8	chr8:11783800-11784000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:11783800-11785000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:11784000-11786000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:11784200-11786200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:11784400-11784800	Enhancers	GM12878-XiMat	blood
13	chr8:11785000-11785200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:11785000-11786000	Weak transcription	HMEC	breast
15	chr8:11785200-11786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:11786000-11786400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:11786000-11786800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:11786000-11787000	Enhancers	HMEC	breast
19	chr8:11786000-11799400	Weak transcription	Right Atrium	heart
20	chr8:11786200-11786600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:11786600-11788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:11786800-11790600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:11787000-11790600	Weak transcription	NHEK	skin

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