Variant report

Variant	nsv947873
Chromosome Location	chr10:42679367-42680580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42678782-42679680	GM12878	blood:	n/a	n/a
2	BATF	chr10:42678896-42679605	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:42679981-42680151	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:42678781-42679602	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:42678728-42679747	GM12878	blood:	n/a	n/a
6	BHLHE40	chr10:42679059-42679552	HepG2	liver:	n/a	n/a
7	CTCF	chr10:42679500-42679650	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr10:42679560-42679830	HEK293	kidney:	n/a	n/a
9	CTCF	chr10:42679204-42679517	K562	blood:	n/a	n/a
10	CTCF	chr10:42679480-42679630	GM12875	blood:	n/a	n/a
11	CTCF	chr10:42679420-42679570	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr10:42679420-42679570	RPTEC	kidney:	n/a	n/a
13	CTCF	chr10:42679400-42679550	HCFaa	heart:	n/a	n/a
14	CTCF	chr10:42679046-42679684	A549	lung:	n/a	n/a
15	CTCF	chr10:42679400-42679550	GM12873	blood:	n/a	n/a
16	CTCF	chr10:42679520-42679670	GM12870	blood:	n/a	n/a
17	CTCF	chr10:42679420-42679570	K562	blood:	n/a	n/a
18	CTCF	chr10:42679420-42679570	HFF	foreskin:	n/a	n/a
19	CTCF	chr10:42679400-42679550	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr10:42679386-42679486	Fibrobl	skin:	n/a	n/a
21	CTCF	chr10:42679400-42679550	HMEC	breast:	n/a	n/a
22	CTCF	chr10:42679308-42679466	Medullo	brain:	n/a	n/a
23	CTCF	chr10:42679400-42679550	HMF	breast:	n/a	n/a
24	CTCF	chr10:42679440-42679590	WI-38	lung:	n/a	n/a
25	CTCF	chr10:42679500-42679650	HEK293	kidney:	n/a	n/a
26	CTCF	chr10:42679440-42679590	BE2_C	brain:	n/a	n/a
27	CTCF	chr10:42679400-42679550	GM12875	blood:	n/a	n/a
28	CTCF	chr10:42679440-42679590	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:42679322-42679381	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr10:42679305-42679463	LNCaP	prostate:	n/a	n/a
31	CTCF	chr10:42679420-42679570	GM12864	blood:	n/a	n/a
32	CTCF	chr10:42679400-42679550	GM12864	blood:	n/a	n/a
33	CTCF	chr10:42679400-42679550	AG09309	skin:	n/a	n/a
34	CTCF	chr10:42679420-42679570	HPF	lung:	n/a	n/a
35	CTCF	chr10:42679440-42679590	HepG2	liver:	n/a	n/a
36	CTCF	chr10:42679308-42679423	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr10:42679178-42679724	A549	lung:	n/a	n/a
38	CTCF	chr10:42679098-42679564	A549	lung:	n/a	n/a
39	CTCF	chr10:42679440-42679590	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr10:42679166-42679504	A549	lung:	n/a	n/a
41	CTCF	chr10:42679420-42679570	GM12872	blood:	n/a	n/a
42	CTCF	chr10:42679190-42679514	K562	blood:	n/a	n/a
43	CTCF	chr10:42679317-42679443	A549	lung:	n/a	n/a
44	CTCF	chr10:42679327-42679467	MCF-7	breast:	n/a	n/a
45	CTCF	chr10:42679500-42679650	BJ	skin:	n/a	n/a
46	CTCF	chr10:42679316-42679497	Gliobla	brain:	n/a	n/a
47	CTCF	chr10:42679238-42679476	LNCaP	prostate:	n/a	n/a
48	CTCF	chr10:42679500-42679650	HepG2	liver:	n/a	n/a
49	CTCF	chr10:42679343-42679403	MCF-7	breast:	n/a	n/a
50	CTCF	chr10:42679468-42679472	Medullo	brain:	n/a	n/a

No data

Variant related genes	Relation type
IGKV1OR10-1	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56100701	chr10:42679394-42679395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs373944391	chr10:42679410-42679411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs548993937	chr10:42679411-42679412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs7478104	chr10:42679419-42679420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs9971059	chr10:42679430-42679431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4333978	chr10:42679442-42679443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568476947	chr10:42679447-42679448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs4411241	chr10:42679460-42679461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537368409	chr10:42679475-42679476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371246848	chr10:42679477-42679478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs80041996	chr10:42679492-42679493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs570721737	chr10:42679493-42679494	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7475437	chr10:42679498-42679499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540068318	chr10:42679511-42679512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs553291153	chr10:42679532-42679533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs373645875	chr10:42679575-42679576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372090971	chr10:42679586-42679587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs57782134	chr10:42679614-42679615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541942661	chr10:42679630-42679631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs555749237	chr10:42679641-42679642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs4333979	chr10:42679646-42679647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs4498941	chr10:42679650-42679651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544526206	chr10:42679664-42679665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs564411879	chr10:42679688-42679689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs28669846	chr10:42679697-42679698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192585993	chr10:42679703-42679704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs28509781	chr10:42679730-42679731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs61239372	chr10:42679739-42679740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs566856861	chr10:42679759-42679760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs184256087	chr10:42679761-42679762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs560071390	chr10:42679766-42679767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs57289980	chr10:42679794-42679795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187974103	chr10:42679797-42679798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs548773722	chr10:42679801-42679802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs373846904	chr10:42679807-42679808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs568514393	chr10:42679849-42679850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531170248	chr10:42679869-42679870	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs28380474	chr10:42679870-42679871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550955572	chr10:42679928-42679929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570859575	chr10:42679929-42679930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs61844871	chr10:42679961-42679962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs553431904	chr10:42680013-42680014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs202221459	chr10:42680017-42680018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539723307	chr10:42680019-42680020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs191775996	chr10:42680023-42680024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs150253452	chr10:42680055-42680056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535967493	chr10:42680068-42680069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555856817	chr10:42680073-42680074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575797467	chr10:42680088-42680089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544664898	chr10:42680111-42680112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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