Variant report

Variant	esv2508953
Chromosome Location	chr8:87156214-87157640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87154721..87156473-chr8:87354419..87356227,3	MCF-7	breast:
2	chr8:87152205..87154768-chr8:87156337..87157922,2	MCF-7	breast:
3	chr6:17392280..17394082-chr8:87153863..87156239,2	MCF-7	breast:
4	chr8:87153151..87158884-chr8:87159008..87162555,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254231	chromatin interactions
ENSG00000123124	chromatin interactions
ENSG00000112186	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79479795	chr8:87156236-87156237	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs555823740	chr8:87156255-87156256	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575771954	chr8:87156271-87156272	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs541420943	chr8:87156280-87156281	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554893466	chr8:87156310-87156311	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146880049	chr8:87156313-87156314	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540535047	chr8:87156330-87156331	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs2721251	chr8:87156367-87156368	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185839443	chr8:87156375-87156376	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546456069	chr8:87156377-87156378	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140643477	chr8:87156416-87156417	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531890271	chr8:87156427-87156428	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548705498	chr8:87156438-87156439	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550218506	chr8:87156441-87156442	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376806303	chr8:87156707-87156708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67385547	chr8:87156714-87156715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527702429	chr8:87156723-87156724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547347052	chr8:87156725-87156726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189627619	chr8:87156728-87156729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2626340	chr8:87156731-87156732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs145840426	chr8:87156755-87156756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573078038	chr8:87156848-87156849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569516848	chr8:87156882-87156883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13251068	chr8:87156953-87156954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535134659	chr8:87156980-87156981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs900637	chr8:87156992-87156993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571915950	chr8:87157007-87157008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12056658	chr8:87157038-87157039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554156717	chr8:87157063-87157064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138382034	chr8:87157070-87157071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2008520	chr8:87157076-87157077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12056618	chr8:87157077-87157078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563025827	chr8:87157148-87157149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576719307	chr8:87157181-87157182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76253772	chr8:87157229-87157230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4059248	chr8:87157242-87157243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542309661	chr8:87157254-87157255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186246641	chr8:87157274-87157275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527669215	chr8:87157281-87157282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141006261	chr8:87157289-87157290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564220984	chr8:87157305-87157306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112116729	chr8:87157307-87157308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138687575	chr8:87157319-87157320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569475092	chr8:87157336-87157337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535287116	chr8:87157344-87157345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112134087	chr8:87157345-87157346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146997579	chr8:87157346-87157347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143856766	chr8:87157406-87157407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10095786	chr8:87157407-87157408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202095259	chr8:87157409-87157410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	22341455	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87155600-87156400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:87156000-87156400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:87156000-87156600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:87156000-87156600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:87156200-87156600	Enhancers	Brain Anterior Caudate	brain
6	chr8:87156600-87162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links