Variant report

Variant	nsv966895
Chromosome Location	chr7:139992876-139994026
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	chr7:139981558..139983930-chr7:139993101..139995865,2	K562	blood:
2	chr7:139875195..139876949-chr7:139993028..139995676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270512	chromatin interactions
ENSG00000006459	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 99 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538085469	chr7:139992885-139992886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562588139	chr7:139992909-139992910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546147852	chr7:139992911-139992912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556380983	chr7:139992933-139992934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574881102	chr7:139992935-139992936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12703712	chr7:139992942-139992943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12703713	chr7:139992955-139992956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs368086496	chr7:139992999-139993000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546501150	chr7:139993013-139993014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12703714	chr7:139993014-139993015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576556035	chr7:139993026-139993027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543997721	chr7:139993033-139993034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562402468	chr7:139993042-139993043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35920526	chr7:139993085-139993086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs398095425	chr7:139993094-139993095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201834004	chr7:139993095-139993096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570564285	chr7:139993102-139993103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534702619	chr7:139993151-139993152	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529811106	chr7:139993168-139993169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541432193	chr7:139993179-139993180	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs79507672	chr7:139993248-139993249	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527323737	chr7:139993249-139993250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368256378	chr7:139993254-139993255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570461769	chr7:139993310-139993311	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186225826	chr7:139993311-139993312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574654516	chr7:139993355-139993356	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191152712	chr7:139993371-139993372	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568430738	chr7:139993383-139993384	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535969439	chr7:139993384-139993385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567719233	chr7:139993450-139993451	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566067028	chr7:139993482-139993483	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373635630	chr7:139993492-139993493	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201206573	chr7:139993493-139993494	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs145680150	chr7:139993509-139993510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527269700	chr7:139993551-139993552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12703715	chr7:139993590-139993591	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567528173	chr7:139993652-139993653	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537668635	chr7:139993682-139993683	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368906818	chr7:139993683-139993684	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200450303	chr7:139993736-139993737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111650436	chr7:139993785-139993786	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576682850	chr7:139993800-139993801	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555903757	chr7:139993806-139993807	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376008739	chr7:139993831-139993832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs543618240	chr7:139993852-139993853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs555949879	chr7:139993859-139993860	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569016938	chr7:139993871-139993872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs36063927	chr7:139993935-139993936	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557176315	chr7:139993948-139993949	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs574181295	chr7:139993988-139993989	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139975600-140002600	Weak transcription	Right Atrium	heart
2	chr7:139977400-139995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:139986800-140007800	Weak transcription	Fetal Intestine Small	intestine
4	chr7:139992400-139993000	Enhancers	HepG2	liver
5	chr7:139993000-139994200	Weak transcription	HepG2	liver
6	chr7:139993800-139995400	Enhancers	Primary neutrophils fromperipheralblood	blood

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