Variant report

Variant	esv275042
Chromosome Location	chr8:1215154-1220024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1218051..1219861-chr8:1223791..1226453,2	K562	blood:
2	chr8:1201588..1203243-chr8:1212763..1215262,2	K562	blood:
3	chr8:1218264..1220141-chr8:1221111..1222674,2	K562	blood:

Extended variants
information (count: 308 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78911281	chr8:1215157-1215158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557633587	chr8:1215159-1215160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577418683	chr8:1215163-1215164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11986907	chr8:1215188-1215189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181831316	chr8:1215191-1215192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553256736	chr8:1215253-1215254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573023566	chr8:1215266-1215267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35015601	chr8:1215297-1215298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562489438	chr8:1215338-1215339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528861192	chr8:1215394-1215395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28696746	chr8:1215439-1215440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6558435	chr8:1215445-1215446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs77564957	chr8:1215453-1215454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543398809	chr8:1215471-1215472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563600202	chr8:1215481-1215482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186521299	chr8:1215490-1215491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532263131	chr8:1215506-1215507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34075676	chr8:1215525-1215526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189776298	chr8:1215531-1215532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577253417	chr8:1215539-1215540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74622754	chr8:1215549-1215550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370777990	chr8:1215550-1215551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568111502	chr8:1215557-1215558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537047376	chr8:1215571-1215572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556643191	chr8:1215615-1215616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73168495	chr8:1215624-1215625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115037791	chr8:1215628-1215629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149697474	chr8:1215643-1215644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541444029	chr8:1215652-1215653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546709369	chr8:1215666-1215667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182432191	chr8:1215709-1215710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185679090	chr8:1215722-1215723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568180626	chr8:1215730-1215731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575285335	chr8:1215740-1215741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376703626	chr8:1215757-1215758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564287915	chr8:1215788-1215789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532456380	chr8:1215814-1215815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56863241	chr8:1215824-1215825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545765897	chr8:1215834-1215835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559629648	chr8:1215841-1215842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528294816	chr8:1215850-1215851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548360594	chr8:1215872-1215873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568171948	chr8:1215883-1215884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530488528	chr8:1215884-1215885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550573041	chr8:1215904-1215905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570330865	chr8:1215915-1215916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146171686	chr8:1215919-1215920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55931756	chr8:1215927-1215928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566770509	chr8:1215944-1215945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375327670	chr8:1215948-1215949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1213000-1216600	Weak transcription	Fetal Brain Male	brain
2	chr8:1217400-1229600	Weak transcription	Gastric	stomach
3	chr8:1218800-1219400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:1219000-1219600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:1219200-1219400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:1219200-1223000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:1219400-1220600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:1219400-1223000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:1219600-1223200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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