Variant report

Variant	esv3479401
Chromosome Location	chr8:67120661-67121810
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	chr8:67120786..67123774-chr8:67126029..67127959,2	MCF-7	breast:
2	chr8:67094857..67096918-chr8:67120769..67123061,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555707812	chr8:67120716-67120717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77286222	chr8:67120735-67120736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11997005	chr8:67120740-67120741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs78772445	chr8:67120771-67120772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375112983	chr8:67120772-67120773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540751590	chr8:67120793-67120794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560519167	chr8:67120806-67120807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11997037	chr8:67120833-67120834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545483758	chr8:67120838-67120839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73240910	chr8:67120865-67120866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111811753	chr8:67120895-67120896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370064576	chr8:67120901-67120902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12549709	chr8:67120919-67120920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2446430	chr8:67120935-67120936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190864655	chr8:67120948-67120949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11989903	chr8:67121023-67121024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182615752	chr8:67121032-67121033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546714728	chr8:67121053-67121054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566505941	chr8:67121060-67121061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142986553	chr8:67121075-67121076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556634307	chr8:67121099-67121100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561180404	chr8:67121133-67121134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575626412	chr8:67121137-67121138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138877757	chr8:67121187-67121188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557848299	chr8:67121295-67121296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187211531	chr8:67121300-67121301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192465482	chr8:67121316-67121317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546765735	chr8:67121330-67121331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2469251	chr8:67121343-67121344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574122159	chr8:67121355-67121356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542827370	chr8:67121421-67121422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562773370	chr8:67121427-67121428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs56285894	chr8:67121443-67121444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545340996	chr8:67121482-67121483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532600374	chr8:67121568-67121569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73693944	chr8:67121579-67121580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150762046	chr8:67121586-67121587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546330195	chr8:67121613-67121614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139104394	chr8:67121614-67121615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149911858	chr8:67121634-67121635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569229592	chr8:67121644-67121645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143943815	chr8:67121691-67121692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569100796	chr8:67121743-67121744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183303141	chr8:67121810-67121811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67116800-67135200	Weak transcription	Placenta	Placenta
2	chr8:67118400-67131400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67118400-67133400	Weak transcription	Liver	Liver
4	chr8:67119600-67135400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:67121400-67122000	Enhancers	Brain Anterior Caudate	brain
6	chr8:67121400-67123400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:67121800-67122200	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:67121800-67122400	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links