Variant report

Variant	nsv968504
Chromosome Location	chr8:11503821-11515422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11509386..11512039-chr8:11582256..11584769,2	MCF-7	breast:
2	chr8:11514092..11516234-chr8:11537448..11539753,2	K562	blood:
3	chr8:11515009..11517415-chr8:11528956..11530696,2	K562	blood:
4	chr8:11514221..11516464-chr8:11517847..11520601,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GATA4-1	chr8:11504845-11506826	NONHSAT125069

Extended variants
information (count: 634 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533826138	chr8:11503822-11503823	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs534907236	chr8:11503824-11503825	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs189032937	chr8:11503825-11503826	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs574495971	chr8:11503826-11503827	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs373965261	chr8:11503865-11503866	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs573605621	chr8:11503866-11503867	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs537598770	chr8:11503870-11503871	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs555985101	chr8:11503878-11503879	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs577706741	chr8:11503892-11503893	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs191873631	chr8:11503898-11503899	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs554951189	chr8:11503959-11503960	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs1564265	chr8:11503979-11503980	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370200514	chr8:11503988-11503989	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs572375815	chr8:11504008-11504009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs139197517	chr8:11504026-11504027	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs561526216	chr8:11504028-11504029	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs532046161	chr8:11504043-11504044	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs116174214	chr8:11504051-11504052	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs537287214	chr8:11504125-11504126	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs556896261	chr8:11504202-11504203	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs34908261	chr8:11504256-11504257	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs565522145	chr8:11504261-11504262	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs188857246	chr8:11504266-11504267	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs184107088	chr8:11504312-11504313	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs551484765	chr8:11504358-11504359	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs566468474	chr8:11504371-11504372	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs149573127	chr8:11504382-11504383	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs117500605	chr8:11504424-11504425	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs13279932	chr8:11504426-11504427	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189438820	chr8:11504447-11504448	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs75934023	chr8:11504448-11504449	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs56791580	chr8:11504452-11504453	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs201629984	chr8:11504477-11504478	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs558485141	chr8:11504504-11504505	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs538478283	chr8:11504508-11504509	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs371422867	chr8:11504525-11504526	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs572458925	chr8:11504528-11504529	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs542961066	chr8:11504547-11504548	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs555049001	chr8:11504577-11504578	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs71518528	chr8:11504586-11504587	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs544165693	chr8:11504587-11504588	Genic enhancers Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs71518529	chr8:11504605-11504606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374928098	chr8:11504609-11504610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13279524	chr8:11504647-11504648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71518530	chr8:11504649-11504650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374449453	chr8:11504659-11504660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2264308	chr8:11504660-11504661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60818832	chr8:11504663-11504664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58152179	chr8:11504679-11504680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4574813	chr8:11504718-11504719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Gastric cancer	22315472	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11500600-11504200	Enhancers	Fetal Heart	heart
2	chr8:11501400-11504000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:11502200-11504600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:11502400-11509000	Weak transcription	Gastric	stomach
5	chr8:11502400-11515400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:11502800-11505000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:11503400-11504200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:11503400-11504200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:11503400-11504600	Enhancers	Fetal Intestine Large	intestine
10	chr8:11503600-11504000	Bivalent Enhancer	HMEC	breast
11	chr8:11503600-11504200	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:11503600-11504200	Bivalent Enhancer	NHEK	skin
13	chr8:11503600-11504600	Bivalent Enhancer	Fetal Intestine Small	intestine
14	chr8:11503600-11509400	Weak transcription	Right Atrium	heart
15	chr8:11504000-11504600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:11504600-11504800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:11504800-11505600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:11505000-11505600	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:11505200-11505400	Bivalent Enhancer	Fetal Lung	lung
20	chr8:11505600-11506000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:11505600-11508400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:11506000-11508800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:11507200-11507400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:11507400-11508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:11507800-11509000	Bivalent Enhancer	HepG2	liver
26	chr8:11508400-11509400	Enhancers	Fetal Intestine Small	intestine
27	chr8:11508400-11509600	Enhancers	Stomach Mucosa	stomach
28	chr8:11508400-11511200	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:11508600-11508800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:11508600-11508800	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr8:11508600-11509000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:11508800-11509400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:11509000-11509200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
34	chr8:11509000-11509600	Enhancers	Gastric	stomach
35	chr8:11509000-11509600	Enhancers	Pancreas	Pancrea
36	chr8:11509200-11509400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:11509200-11510600	Enhancers	Primary B cells from cord blood	blood
38	chr8:11509400-11509600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:11509400-11509600	Enhancers	Right Atrium	heart
40	chr8:11510000-11510800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:11510200-11510800	Enhancers	NHEK	skin
42	chr8:11510400-11510800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:11514800-11516000	Enhancers	Liver	Liver
44	chr8:11515200-11516000	Enhancers	Pancreas	Pancrea
45	chr8:11515400-11515600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:11515400-11516200	Enhancers	Duodenum Mucosa	Duodenum

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