Variant report

Variant	nsv889695
Chromosome Location	chr8:1135771-1192438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1123513..1126337-chr8:1142683..1145446,2	K562	blood:

Extended variants
information (count: 2407 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2407 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11993162	chr8:1135771-1135772	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114058640	chr8:1135778-1135779	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs183752741	chr8:1135780-1135781	Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs10109506	chr8:1135814-1135815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375287476	chr8:1135821-1135822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145588653	chr8:1135848-1135849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554487295	chr8:1135853-1135854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149161713	chr8:1135862-1135863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563929894	chr8:1135863-1135864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72507631	chr8:1135873-1135874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188681046	chr8:1135886-1135887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79494752	chr8:1135890-1135891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143306126	chr8:1135891-1135892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193285080	chr8:1135919-1135920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569466172	chr8:1135924-1135925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77499224	chr8:1135929-1135930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183737003	chr8:1135950-1135951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77609050	chr8:1135952-1135953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542290626	chr8:1135954-1135955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200781078	chr8:1135980-1135981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376070693	chr8:1136004-1136005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561129275	chr8:1136010-1136011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13261832	chr8:1136015-1136016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs572836371	chr8:1136029-1136030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535352480	chr8:1136040-1136041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141974922	chr8:1136054-1136055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575350621	chr8:1136059-1136060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62489002	chr8:1136087-1136088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564174528	chr8:1136096-1136097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565145486	chr8:1136110-1136111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577588072	chr8:1136112-1136113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78943803	chr8:1136127-1136128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376337647	chr8:1136128-1136129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186625467	chr8:1136141-1136142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529656204	chr8:1136147-1136148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73537288	chr8:1136170-1136171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562948122	chr8:1136184-1136185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559628878	chr8:1136185-1136186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531897825	chr8:1136198-1136199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530002584	chr8:1136209-1136210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551603843	chr8:1136215-1136216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548422240	chr8:1136218-1136219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115515080	chr8:1136235-1136236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534019190	chr8:1136239-1136240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73537289	chr8:1136251-1136252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73537291	chr8:1136302-1136303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552206926	chr8:1136319-1136320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145859218	chr8:1136353-1136354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575366430	chr8:1136354-1136355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117678158	chr8:1136398-1136399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1135200-1136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:1135400-1137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1135600-1135800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
4	chr8:1136000-1136200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:1136000-1136200	Enhancers	Gastric	stomach
6	chr8:1137200-1138200	Enhancers	Adipose Nuclei	Adipose
7	chr8:1137600-1137800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:1140200-1141000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:1141000-1148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:1143800-1144400	ZNF genes & repeats	Spleen	Spleen
11	chr8:1144400-1144800	Weak transcription	Spleen	Spleen
12	chr8:1144800-1145000	Enhancers	Spleen	Spleen
13	chr8:1144800-1145200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:1148400-1149000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:1148600-1151600	Weak transcription	Fetal Brain Male	brain
16	chr8:1149000-1149600	Enhancers	Brain Angular Gyrus	brain
17	chr8:1149000-1150400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:1149200-1150000	Enhancers	Brain Anterior Caudate	brain
19	chr8:1150000-1150200	Enhancers	Fetal Brain Female	brain
20	chr8:1150400-1151000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:1151000-1151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:1151600-1151800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:1151600-1151800	ZNF genes & repeats	Fetal Brain Male	brain
24	chr8:1151600-1152000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:1151800-1152000	Enhancers	Fetal Brain Male	brain
26	chr8:1151800-1152000	ZNF genes & repeats	Fetal Kidney	kidney
27	chr8:1151800-1152200	Bivalent/Poised TSS	Fetal Lung	lung
28	chr8:1152000-1152200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:1152200-1154000	Weak transcription	Fetal Brain Male	brain
30	chr8:1153000-1153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:1153800-1154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:1154000-1155000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:1154200-1154400	Enhancers	Fetal Brain Male	brain
34	chr8:1154600-1155400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr8:1154800-1155400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:1154800-1155400	Enhancers	Fetal Muscle Trunk	muscle
37	chr8:1155000-1155200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:1155200-1155800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:1155400-1155800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:1156200-1156400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr8:1160800-1161200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:1162400-1163200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr8:1162800-1163000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:1163000-1164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:1163200-1164400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:1163600-1165000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:1163600-1165000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:1163800-1164400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:1163800-1164400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:1164000-1164600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links