Variant report

Variant	esv3428772
Chromosome Location	chr10:42891326-42949776
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	chr10:42939273..42941878-chr10:42945639..42947236,2	K562	blood:
2	chr10:42939273..42941878-chr10:42945639..42947236,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564933993	chr10:42918235-42918236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12765826	chr10:42918251-42918252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs184151846	chr10:42918268-42918269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560744034	chr10:42918272-42918273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187323703	chr10:42918275-42918276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371124311	chr10:42918344-42918345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143786399	chr10:42918410-42918411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189653773	chr10:42918413-42918414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569340597	chr10:42918438-42918439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538392970	chr10:42918442-42918443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182338634	chr10:42918446-42918447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187010741	chr10:42918460-42918461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545073582	chr10:42918500-42918501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191714502	chr10:42918529-42918530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529657559	chr10:42918534-42918535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553736853	chr10:42918535-42918536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116349021	chr10:42918579-42918580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542556937	chr10:42918593-42918594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556281398	chr10:42939209-42939210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372196718	chr10:42939210-42939211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs202065748	chr10:42939241-42939242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200389372	chr10:42939246-42939247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185130942	chr10:42939282-42939283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567725237	chr10:42939316-42939317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530491005	chr10:42939322-42939323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550228828	chr10:42939328-42939329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs570305019	chr10:42939364-42939365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs386743112	chr10:42939368-42939369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113909182	chr10:42939369-42939370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs35350909	chr10:42939405-42939406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182459274	chr10:42939441-42939442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs35548310	chr10:42939446-42939447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs74135581	chr10:42939454-42939455	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553744730	chr10:42939465-42939466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs2154316	chr10:42939466-42939467	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs35981740	chr10:42939469-42939470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545691318	chr10:42939543-42939544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs188408991	chr10:42939551-42939552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs543778596	chr10:42939588-42939589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs564745925	chr10:42939616-42939617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373142144	chr10:42939617-42939618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs117267867	chr10:42939635-42939636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112187522	chr10:42939649-42939650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140471986	chr10:42939714-42939715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191552193	chr10:42939739-42939740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528229433	chr10:42939795-42939796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs73250242	chr10:42939809-42939810	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75125072	chr10:42939815-42939816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200578360	chr10:42939819-42939820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs74135582	chr10:42939845-42939846	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Cancer	17440070	CNVD
Melanoma	20877625	CNVD
Hirschsprung''s Disease	19925665	CNVD
Hirschsprung''s Disease	20456320	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42918200-42918600	Enhancers	Left Ventricle	heart
2	chr10:42939200-42940000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:42948200-42948800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:42949600-42949800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:42949600-42950200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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