Variant report

Variant	nsv948294
Chromosome Location	chr10:42631131-42642147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 431 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9972008	chr10:42638400-42638401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559053269	chr10:42638401-42638402	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs55925829	chr10:42638459-42638460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34899610	chr10:42638464-42638465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369282	chr10:42638479-42638480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369792299	chr10:42638493-42638494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541449809	chr10:42638495-42638496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561242711	chr10:42638497-42638498	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574805074	chr10:42638511-42638512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543701731	chr10:42638513-42638514	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373010191	chr10:42638517-42638518	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563477712	chr10:42638518-42638519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376201591	chr10:42638526-42638527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532383657	chr10:42638542-42638543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs370587326	chr10:42638546-42638547	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184878639	chr10:42638551-42638552	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376127442	chr10:42638552-42638553	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs66502870	chr10:42638556-42638557	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs60211520	chr10:42638561-42638562	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs528154935	chr10:42638564-42638565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547806634	chr10:42638571-42638572	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201904734	chr10:42638576-42638577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567686641	chr10:42638584-42638585	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369832412	chr10:42638594-42638595	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs373947541	chr10:42638605-42638606	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs35318131	chr10:42638615-42638616	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs71539836	chr10:42638620-42638621	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550012849	chr10:42638623-42638624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs35423142	chr10:42638624-42638625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs78279129	chr10:42638630-42638631	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187567619	chr10:42638632-42638633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs377061942	chr10:42638635-42638636	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs202075863	chr10:42638640-42638641	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs76672717	chr10:42638643-42638644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79156068	chr10:42638644-42638645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79930012	chr10:42638646-42638647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs78171538	chr10:42638658-42638659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs74838559	chr10:42638659-42638660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs75144526	chr10:42638663-42638664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75018029	chr10:42638664-42638665	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs187354650	chr10:42638667-42638668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370540343	chr10:42638668-42638669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs79861088	chr10:42638672-42638673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201301719	chr10:42638676-42638677	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs76450840	chr10:42638683-42638684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs76682146	chr10:42638687-42638688	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs77389297	chr10:42638693-42638694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76008255	chr10:42638697-42638698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs414256	chr10:42638703-42638704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77629779	chr10:42638706-42638707	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42638400-42638800	Active TSS	Fetal Heart	heart
2	chr10:42639400-42639600	Weak transcription	Fetal Heart	heart
3	chr10:42640000-42644600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr10:42640200-42640800	Active TSS	Fetal Heart	heart
5	chr10:42640400-42641800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr10:42640400-42642400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:42640400-42644800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr10:42640600-42641000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr10:42640600-42641200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:42640600-42641200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr10:42640600-42641200	ZNF genes & repeats	Lung	lung
12	chr10:42640600-42641200	ZNF genes & repeats	Pancreas	Pancrea
13	chr10:42640600-42641400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:42640600-42641400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:42640600-42641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:42640600-42646400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:42640800-42641400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr10:42640800-42641400	ZNF genes & repeats	Gastric	stomach
19	chr10:42640800-42641800	Weak transcription	Fetal Heart	heart
20	chr10:42641000-42645400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr10:42641600-42643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:42641800-42642200	Active TSS	Fetal Heart	heart

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