Variant report

Variant	esv3478454
Chromosome Location	chr8:1129995-1132493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 234 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10104013	chr8:1129996-1129997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528295494	chr8:1130023-1130024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75219729	chr8:1130026-1130027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573108027	chr8:1130045-1130046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568144288	chr8:1130059-1130060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537189075	chr8:1130060-1130061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7821310	chr8:1130074-1130075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570113538	chr8:1130083-1130084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78896084	chr8:1130152-1130153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7821457	chr8:1130164-1130165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573457081	chr8:1130181-1130182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77668815	chr8:1130194-1130195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151336964	chr8:1130214-1130215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186066284	chr8:1130215-1130216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543994789	chr8:1130218-1130219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539933596	chr8:1130221-1130222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143965734	chr8:1130225-1130226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189833341	chr8:1130235-1130236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181435161	chr8:1130236-1130237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75229580	chr8:1130253-1130254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73184529	chr8:1130275-1130276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7844065	chr8:1130291-1130292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7821624	chr8:1130300-1130301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548176924	chr8:1130307-1130308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77042299	chr8:1130315-1130316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78534808	chr8:1130326-1130327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368474855	chr8:1130366-1130367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186600876	chr8:1130367-1130368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190461193	chr8:1130369-1130370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7844194	chr8:1130374-1130375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs80272011	chr8:1130401-1130402	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566330919	chr8:1130402-1130403	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536187979	chr8:1130405-1130406	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555782553	chr8:1130426-1130427	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4548202	chr8:1130427-1130428	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544776630	chr8:1130428-1130429	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149039476	chr8:1130432-1130433	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143167646	chr8:1130434-1130435	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551537728	chr8:1130441-1130442	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78759224	chr8:1130445-1130446	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148275772	chr8:1130447-1130448	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77003070	chr8:1130454-1130455	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4620310	chr8:1130473-1130474	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561791282	chr8:1130483-1130484	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530631935	chr8:1130506-1130507	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4548203	chr8:1130507-1130508	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs532899903	chr8:1130510-1130511	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546282055	chr8:1130529-1130530	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4268146	chr8:1130538-1130539	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11308692	chr8:1130555-1130556	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1124800-1132400	Weak transcription	Fetal Kidney	kidney
2	chr8:1128400-1130800	Enhancers	Fetal Brain Male	brain
3	chr8:1129400-1133200	Weak transcription	Fetal Brain Female	brain
4	chr8:1129600-1130400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1130400-1130800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:1130600-1130800	Enhancers	Gastric	stomach
7	chr8:1130800-1131800	Weak transcription	Fetal Brain Male	brain
8	chr8:1130800-1132600	Weak transcription	Gastric	stomach
9	chr8:1130800-1134800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:1131800-1132000	Enhancers	Fetal Brain Male	brain
11	chr8:1132000-1132400	Weak transcription	Fetal Brain Male	brain
12	chr8:1132400-1132600	Enhancers	Fetal Kidney	kidney
13	chr8:1132400-1134200	Enhancers	Fetal Brain Male	brain

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