Variant report

Variant	nsv292792
Chromosome Location	chr4:10475484-10478105
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	chr4:10473540..10475775-chr4:10478534..10481442,2	K562	blood:
2	chr4:10119485..10122055-chr4:10473675..10475984,2	K562	blood:

Variant related genes	Relation type
ENSG00000248419	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547655397	chr4:10475495-10475496	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148764799	chr4:10475534-10475535	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189147877	chr4:10475536-10475537	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548332378	chr4:10475546-10475547	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192134712	chr4:10475550-10475551	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537176559	chr4:10475586-10475587	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370884833	chr4:10475589-10475590	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184300582	chr4:10475590-10475591	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549984847	chr4:10475609-10475610	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551349404	chr4:10475655-10475656	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534816449	chr4:10475682-10475683	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553265169	chr4:10475683-10475684	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574826364	chr4:10475754-10475755	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188741092	chr4:10475755-10475756	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181208330	chr4:10475762-10475763	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6447985	chr4:10475771-10475772	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545547319	chr4:10475772-10475773	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186230058	chr4:10475784-10475785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371021596	chr4:10475796-10475797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527286838	chr4:10475813-10475814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6833104	chr4:10475818-10475819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547592302	chr4:10475819-10475820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189239955	chr4:10475831-10475832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542261534	chr4:10475832-10475833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7676070	chr4:10475863-10475864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141541087	chr4:10475866-10475867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150902683	chr4:10475876-10475877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140244015	chr4:10475877-10475878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573399723	chr4:10475891-10475892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570967549	chr4:10475903-10475904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534801306	chr4:10475909-10475910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553251158	chr4:10475933-10475934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537511379	chr4:10475980-10475981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370874970	chr4:10476006-10476007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574765930	chr4:10476050-10476051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535421991	chr4:10476051-10476052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555860787	chr4:10476081-10476082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557239848	chr4:10476122-10476123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575105421	chr4:10476176-10476177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545785605	chr4:10476183-10476184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145326520	chr4:10476188-10476189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373673836	chr4:10476189-10476190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540033783	chr4:10476193-10476194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180756555	chr4:10476199-10476200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541221306	chr4:10476205-10476206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559549358	chr4:10476223-10476224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147670715	chr4:10476241-10476242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186441836	chr4:10476253-10476254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202123855	chr4:10476258-10476259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190861464	chr4:10476319-10476320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10469400-10484600	Weak transcription	K562	blood
2	chr4:10475200-10476000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:10475200-10476200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links