Variant report

Variant	esv3389274
Chromosome Location	chr8:99084926-99086824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99056787..99062445-chr8:99080165..99085454,7	MCF-7	breast:
2	chr8:99084386..99086516-chr8:99128038..99129656,2	MCF-7	breast:
3	chr8:99085933..99088914-chr8:99090507..99092647,3	MCF-7	breast:
4	chr8:99076443..99079804-chr8:99082104..99085952,3	K562	blood:
5	chr8:99056168..99061839-chr8:99079286..99085129,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132541	chromatin interactions
ENSG00000177459	chromatin interactions
ENSG00000156482	chromatin interactions
ENSG00000104356	chromatin interactions
ENSG00000252755	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576159068	chr8:99084980-99084981	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs149787124	chr8:99085072-99085073	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs557843309	chr8:99085133-99085134	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs35729239	chr8:99085162-99085163	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs144461705	chr8:99085163-99085164	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs35855070	chr8:99085164-99085165	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs191114934	chr8:99085201-99085202	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs184296579	chr8:99085217-99085218	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs113020134	chr8:99085248-99085249	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs189636845	chr8:99085257-99085258	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs529635163	chr8:99085275-99085276	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs146823874	chr8:99085294-99085295	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs192627920	chr8:99085417-99085418	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs79855948	chr8:99085425-99085426	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs551461663	chr8:99085447-99085448	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs372150799	chr8:99085631-99085632	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs534862363	chr8:99085658-99085659	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs7815901	chr8:99085660-99085661	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs6150722	chr8:99085662-99085663	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs13249014	chr8:99085664-99085665	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs6984648	chr8:99085688-99085689	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs4048725	chr8:99085694-99085695	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs56040484	chr8:99085709-99085710	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs28670187	chr8:99085714-99085715	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs2877470	chr8:99085731-99085732	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs181678157	chr8:99085742-99085743	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs4998236	chr8:99085744-99085745	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs527261952	chr8:99085754-99085755	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs58401063	chr8:99085775-99085776	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs7004741	chr8:99085784-99085785	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs3075369	chr8:99085788-99085789	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs186295178	chr8:99085789-99085790	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs547455921	chr8:99085809-99085810	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs140488583	chr8:99085824-99085825	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs189505089	chr8:99085841-99085842	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs536499630	chr8:99085861-99085862	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs374774000	chr8:99085865-99085866	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs569795938	chr8:99085866-99085867	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs538474906	chr8:99085885-99085886	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs6988458	chr8:99085890-99085891	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs577753717	chr8:99085895-99085896	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs533925777	chr8:99085915-99085916	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs182561232	chr8:99085969-99085970	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573954389	chr8:99085990-99085991	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561163949	chr8:99085999-99086000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563054728	chr8:99086015-99086016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs531823678	chr8:99086032-99086033	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201617170	chr8:99086037-99086038	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs34086743	chr8:99086066-99086067	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576552482	chr8:99086089-99086090	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
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
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
Multiple myeloma	16461302	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
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
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Malignant melanoma	17260012	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99082400-99090200	Weak transcription	Stomach Mucosa	stomach
2	chr8:99082400-99090800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:99083400-99092200	Weak transcription	Pancreas	Pancrea
4	chr8:99083600-99087600	Weak transcription	Liver	Liver
5	chr8:99084000-99085600	Enhancers	GM12878-XiMat	blood

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