Variant report

Variant	esv1792931
Chromosome Location	chr8:1338340-1349165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147456133	chr8:1338354-1338355	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs79867751	chr8:1338365-1338366	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs139267775	chr8:1338375-1338376	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs551613490	chr8:1338391-1338392	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs571797397	chr8:1338398-1338399	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs527919869	chr8:1338421-1338422	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs369601358	chr8:1338435-1338436	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs185114933	chr8:1338436-1338437	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs542727158	chr8:1338441-1338442	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs149635825	chr8:1338464-1338465	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs536215992	chr8:1338478-1338479	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs377671192	chr8:1338504-1338505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs149115001	chr8:1338508-1338509	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs369520217	chr8:1338510-1338511	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs561207272	chr8:1338535-1338536	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs531331176	chr8:1338578-1338579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs189521512	chr8:1338584-1338585	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs569624102	chr8:1338596-1338597	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs538708646	chr8:1338602-1338603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35628917	chr8:1338618-1338619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558407980	chr8:1338641-1338642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs873854	chr8:1338642-1338643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74452547	chr8:1338644-1338645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182186227	chr8:1338647-1338648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375308734	chr8:1338679-1338680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367898835	chr8:1338700-1338701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542582294	chr8:1338710-1338711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188132941	chr8:1338727-1338728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576394698	chr8:1338730-1338731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144398519	chr8:1338745-1338746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565283947	chr8:1338751-1338752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17754782	chr8:1338752-1338753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563539721	chr8:1338764-1338765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548022499	chr8:1338805-1338806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561532431	chr8:1338811-1338812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530441393	chr8:1338829-1338830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191354750	chr8:1338837-1338838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117925924	chr8:1338849-1338850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548277834	chr8:1338860-1338861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552200913	chr8:1338904-1338905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148762072	chr8:1338916-1338917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534476195	chr8:1338940-1338941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554363898	chr8:1338974-1338975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574319861	chr8:1338976-1338977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74929282	chr8:1338979-1338980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557015230	chr8:1338980-1338981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs757885	chr8:1338986-1338987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545076939	chr8:1338990-1338991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142404443	chr8:1339011-1339012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565342223	chr8:1339026-1339027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1336400-1338800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:1337200-1338600	Bivalent Enhancer	Fetal Stomach	stomach
3	chr8:1337600-1339000	Enhancers	Fetal Brain Male	brain
4	chr8:1337800-1338600	Enhancers	Fetal Brain Female	brain
5	chr8:1338000-1340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:1340400-1340600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:1340400-1340600	Enhancers	Stomach Smooth Muscle	stomach

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