Variant report

Variant	nsv1021762
Chromosome Location	chr8:112291340-112331791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:112320811..112323048-chr8:112324794..112327976,3	MCF-7	breast:
2	chr8:112293297..112295466-chr8:112295742..112297439,2	MCF-7	breast:
3	chr17:57915032..57917738-chr8:112321268..112323472,2	MCF-7	breast:
4	chr8:112320811..112323048-chr8:112324794..112327976,3	MCF-7	breast:
5	chr8:112293297..112295466-chr8:112295742..112297439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199803806	chr8:112291618-112291619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548671393	chr8:112291628-112291629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369740203	chr8:112291633-112291634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59305568	chr8:112291634-112291635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557977174	chr8:112291640-112291641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532272368	chr8:112291651-112291652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558309489	chr8:112291666-112291667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575594547	chr8:112291673-112291674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79034906	chr8:112291688-112291689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186815927	chr8:112291699-112291700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576530364	chr8:112291727-112291728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142270693	chr8:112291748-112291749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555907921	chr8:112291768-112291769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572544552	chr8:112291808-112291809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541164685	chr8:112291829-112291830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564731337	chr8:112291895-112291896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533328692	chr8:112291933-112291934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543727068	chr8:112291959-112291960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12707840	chr8:112291980-112291981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534303347	chr8:112291999-112292000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149677467	chr8:112321281-112321282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142009571	chr8:112321282-112321283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576672258	chr8:112321285-112321286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376217046	chr8:112321299-112321300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537705867	chr8:112321303-112321304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187581607	chr8:112321306-112321307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73705836	chr8:112321309-112321310	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542993544	chr8:112321316-112321317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138514745	chr8:112321352-112321353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111953226	chr8:112321370-112321371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs149435318	chr8:112321445-112321446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369088653	chr8:112321459-112321460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545319928	chr8:112321463-112321464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191793131	chr8:112321491-112321492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147109963	chr8:112321541-112321542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529108805	chr8:112321548-112321549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs59997488	chr8:112321561-112321562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551265458	chr8:112321572-112321573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11779289	chr8:112321616-112321617	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184005667	chr8:112321731-112321732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374377339	chr8:112321749-112321750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566492965	chr8:112321755-112321756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114385634	chr8:112321777-112321778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs28881235	chr8:112321786-112321787	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs144818125	chr8:112321793-112321794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537765695	chr8:112321836-112321837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554478391	chr8:112321848-112321849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554384453	chr8:112321858-112321859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574655523	chr8:112321875-112321876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536296510	chr8:112321897-112321898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112291600-112292000	Enhancers	Adipose Nuclei	Adipose

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