Variant report

Variant	nsv525722
Chromosome Location	chr10:787896-800368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:799560-799705	K562	blood:	n/a	n/a
2	CEBPB	chr10:799626-799733	HepG2	liver:	n/a	n/a
3	CTCF	chr10:798402-798426	GM10266	blood:	n/a	n/a
4	CTCF	chr10:788807-788881	Spleen_OC	spleen:	n/a	n/a
5	FOXA1	chr10:792166-792474	HepG2	liver:	n/a	n/a
6	FOXA2	chr10:792162-792455	A549	lung:	n/a	n/a
7	FOXA2	chr10:792068-792490	A549	lung:	n/a	n/a
8	KAP1	chr10:791601-792092	HEK293	kidney:	n/a	n/a
9	POLR2A	chr10:796510-796675	ProgFib	skin:	n/a	n/a
10	POLR2A	chr10:792087-792218	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr10:792073-792246	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:791165-791188	Gliobla	brain:	n/a	n/a
13	SETDB1	chr10:796108-796491	U2OS	brain:	n/a	n/a
14	SETDB1	chr10:791573-792113	U2OS	brain:	n/a	n/a
15	STAT3	chr10:796197-796446	MCF10A-Er-Src	breast:	n/a	n/a
16	ZNF143	chr10:796212-796454	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf108-4	chr10:789932-789973	XLOC_008335
2	lnc-C10orf108-4	chr10:790517-790898	XLOC_008335

Variant related genes	Relation type
ENSG00000231601	TF binding region
SEC23IP	miRNA target sites
SEC24A	miRNA target sites

Extended variants
information (count: 363 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1769242	chr10:787896-787897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114190856	chr10:787909-787910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539982077	chr10:787920-787921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563239618	chr10:787929-787930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529263473	chr10:787945-787946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183949643	chr10:787991-787992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568265404	chr10:788008-788009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12251477	chr10:788020-788021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547365628	chr10:788039-788040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11253389	chr10:788153-788154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539616280	chr10:788175-788176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556310403	chr10:788271-788272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569727367	chr10:788326-788327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535109592	chr10:788365-788366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149946985	chr10:788378-788379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571940200	chr10:788379-788380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552113693	chr10:788401-788402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558005291	chr10:788430-788431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577835968	chr10:788483-788484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4881518	chr10:788514-788515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188866165	chr10:788515-788516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552227711	chr10:788523-788524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1750787	chr10:788524-788525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531243140	chr10:788526-788527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542750868	chr10:788548-788549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369534788	chr10:788622-788623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528459440	chr10:788628-788629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551189361	chr10:788631-788632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567789864	chr10:788649-788650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72635991	chr10:788658-788659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1750788	chr10:788673-788674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11253390	chr10:788678-788679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144146760	chr10:788699-788700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78924244	chr10:788751-788752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11253391	chr10:788752-788753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139997059	chr10:788767-788768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11253392	chr10:788768-788769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144198270	chr10:788783-788784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11253393	chr10:788824-788825	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11253394	chr10:788840-788841	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574581980	chr10:788858-788859	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs11253395	chr10:788884-788885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112185864	chr10:788948-788949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557177184	chr10:788966-788967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368537494	chr10:788975-788976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192993296	chr10:788994-788995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143718728	chr10:789021-789022	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs573205645	chr10:789033-789034	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs185245432	chr10:789088-789089	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs139446698	chr10:789106-789107	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:784000-790600	Weak transcription	Spleen	Spleen
2	chr10:789000-789400	Bivalent Enhancer	HepG2	liver
3	chr10:790600-790800	Active TSS	Spleen	Spleen
4	chr10:792000-792400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr10:796800-801200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:799000-801000	Weak transcription	Pancreas	Pancrea
7	chr10:800000-800200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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