Variant report

Variant	esv3443204
Chromosome Location	chr8:87323786-87325784
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	chr8:87321465..87324359-chr8:87332043..87333934,2	MCF-7	breast:
2	chr8:87308348..87310292-chr8:87324262..87326403,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164893	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192850442	chr8:87323882-87323883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139289697	chr8:87323977-87323978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182243876	chr8:87324006-87324007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76367374	chr8:87324050-87324051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113393747	chr8:87324094-87324095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115859496	chr8:87324096-87324097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114499641	chr8:87324102-87324103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369003559	chr8:87324123-87324124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186475852	chr8:87324129-87324130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144199791	chr8:87324143-87324144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140724797	chr8:87324156-87324157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116226265	chr8:87324175-87324176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531155638	chr8:87324176-87324177	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144508296	chr8:87324177-87324178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561525576	chr8:87324225-87324226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192699853	chr8:87324302-87324303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546645732	chr8:87324409-87324410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72688540	chr8:87324410-87324411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532339618	chr8:87324413-87324414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368374688	chr8:87324419-87324420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371494841	chr8:87324497-87324498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57993404	chr8:87324507-87324508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56771589	chr8:87324508-87324509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138493644	chr8:87324509-87324510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147389078	chr8:87324511-87324512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57274553	chr8:87324513-87324514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201026450	chr8:87324519-87324520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201384517	chr8:87324521-87324522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71275845	chr8:87324526-87324527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7464062	chr8:87324527-87324528	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs13278528	chr8:87324530-87324531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58056887	chr8:87324531-87324532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12676754	chr8:87324535-87324536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs13272087	chr8:87324538-87324539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201010222	chr8:87324539-87324540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60294777	chr8:87324540-87324541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13278535	chr8:87324544-87324545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61483349	chr8:87324548-87324549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7461557	chr8:87324552-87324553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374027840	chr8:87324553-87324554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56745603	chr8:87324554-87324555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566890226	chr8:87324571-87324572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537460410	chr8:87324591-87324592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112358757	chr8:87324643-87324644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568242191	chr8:87324792-87324793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184674509	chr8:87324799-87324800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556173572	chr8:87324870-87324871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190380846	chr8:87324964-87324965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192860396	chr8:87324969-87324970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545785338	chr8:87324996-87324997	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
Cutaneous T-cell lymphoma	21881587	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87318400-87333200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:87318600-87325200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:87325200-87325400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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