Variant report

Variant	nsv975548
Chromosome Location	chr12:37930049-37938820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:37933064-37933253	HepG2	liver:	n/a	chr12:37933129-37933140
2	CTCF	chr12:37930048-37930110	GM13976	blood:	n/a	n/a
3	EBF1	chr12:37932749-37932931	GM12878	blood:	n/a	n/a
4	HEY1	chr12:37935712-37935921	K562	blood:	n/a	n/a
5	MYC	chr12:37936738-37936795	H1-hESC	embryonic stem cell:	n/a	n/a
6	NRF1	chr12:37937272-37937817	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr12:37935716-37935851	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:37934778-37934897	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:37936375-37936412	Gliobla	brain:	n/a	n/a
10	RAD21	chr12:37937355-37937619	SK-N-SH_RA	brain:	n/a	n/a
11	SIN3AK20	chr12:37935749-37935838	HepG2	liver:	n/a	n/a
12	TCF3	chr12:37935579-37935903	GM12878	blood:	n/a	n/a
13	ZBTB33	chr12:37935650-37935938	GM12878	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:37936142-37936192	SK-N-MC	brain:	n/a
2	chr12:37936063-37936113	SK-N-SH_RA	brain:	n/a
3	chr12:37936142-37936192	AG09319	gingival:	n/a
4	chr12:37937608-37937658	HIPEpiC	eye:	n/a
5	chr12:37936063-37936113	AG09309	skin:	n/a
6	chr12:37937769-37937819	H1-hESC	embryonic stem cell:	embryo
7	chr12:37937608-37937658	SK-N-SH	brain:	n/a
8	chr12:37937799-37937849	HUVEC	blood vessel:	n/a
9	chr12:37935538-37935588	GM12878	blood:	n/a
10	chr12:37935346-37935396	HEK293	kidney:	embryo
11	chr12:37935346-37935396	IMR90	lung:	fetal
12	chr12:37936142-37936192	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:37937799-37937849	CMK	blood:	n/a
14	chr12:37936142-37936192	BE2_C	brain:	n/a
15	chr12:37936142-37936192	HEK293	kidney:	embryo
16	chr12:37936142-37936192	PrEC	prostate:	n/a
17	chr12:37937769-37937819	AoSMC	blood vessel:	n/a
18	chr12:37936063-37936113	ECC-1	luminal epithelium:	n/a
19	chr12:37936142-37936192	U87	brain:	n/a
20	chr12:37936063-37936113	HIPEpiC	eye:	n/a
21	chr12:37936063-37936113	ovcar-3	ovarian:	n/a
22	chr12:37936314-37936364	ECC-1	luminal epithelium:	n/a
23	chr12:37935538-37935588	ECC-1	luminal epithelium:	n/a
24	chr12:37936314-37936364	HRCEpiC	kidney:	n/a
25	chr12:37937769-37937819	NHBE	bronchial:	n/a
26	chr12:37937608-37937658	HRPEpiC	eye:	n/a
27	chr12:37936314-37936364	PANC-1	pancreas:	n/a
28	chr12:37936142-37936192	HCT-116	colon:	n/a
29	chr12:37935538-37935588	HCT-116	colon:	n/a
30	chr12:37937799-37937849	AoSMC	blood vessel:	n/a
31	chr12:37937608-37937658	Hepatocyte	liver:	n/a
32	chr12:37936063-37936113	HRE	kidney:	n/a
33	chr12:37937769-37937819	GM12891	blood:	n/a
34	chr12:37935346-37935396	GM12892	blood:	n/a
35	chr12:37936142-37936192	HAEpiC	amniotic membrane:	n/a
36	chr12:37937608-37937658	HCPEpiC	choroid plexus:	n/a
37	chr12:37936063-37936113	GM06990	blood:	n/a
38	chr12:37935346-37935396	A549	lung:	n/a
39	chr12:37937608-37937658	GM19239	blood:	n/a
40	chr12:37935346-37935396	BE2_C	brain:	n/a
41	chr12:37937608-37937658	RPTEC	kidney:	n/a
42	chr12:37935538-37935588	AG04449	skin:	fetal
43	chr12:37937769-37937819	HPAEpiC	pulmonary alveolar:	n/a
44	chr12:37935538-37935588	NT2-D1	testis:	n/a
45	chr12:37937769-37937819	SKMC	muscle:	n/a
46	chr12:37937799-37937849	Jurkat	blood:	n/a
47	chr12:37936142-37936192	NHDF-neo	bronchial:	n/a
48	chr12:37936314-37936364	HepG2	liver:	n/a
49	chr12:37937608-37937658	PrEC	prostate:	n/a
50	chr12:37936063-37936113	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
ENSG00000257933	TF binding region
ENSG00000257794	TF binding region
ENSG00000257899	TF binding region
ENSG00000257933	CpG island
ENSG00000257794	CpG island
ENSG00000257899	CpG island

Extended variants
information (count: 336 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11182900	chr12:37934009-37934010	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144926142	chr12:37934010-37934011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538536494	chr12:37934011-37934012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538714630	chr12:37934015-37934016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs2387434	chr12:37934018-37934019	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192307648	chr12:37934046-37934047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs540691767	chr12:37934053-37934054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554868400	chr12:37934054-37934055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574768140	chr12:37934059-37934060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184568377	chr12:37934069-37934070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs190197567	chr12:37934071-37934072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs563464914	chr12:37934077-37934078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs375407789	chr12:37934120-37934121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149063111	chr12:37934141-37934142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs545438576	chr12:37934155-37934156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565259570	chr12:37934176-37934177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527654751	chr12:37934191-37934192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs182472317	chr12:37934193-37934194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs143094675	chr12:37934202-37934203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs151139325	chr12:37934221-37934222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569785781	chr12:37934225-37934226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570188987	chr12:37934233-37934234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538858978	chr12:37934272-37934273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140135640	chr12:37934275-37934276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565652048	chr12:37934337-37934338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs3863361	chr12:37934344-37934345	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142679186	chr12:37934356-37934357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs12313825	chr12:37934357-37934358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs146903623	chr12:37934364-37934365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574525931	chr12:37934365-37934366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537303193	chr12:37934388-37934389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs139355110	chr12:37934389-37934390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs576943348	chr12:37934393-37934394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs545696549	chr12:37934412-37934413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201454805	chr12:37934430-37934431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559536752	chr12:37934441-37934442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552414046	chr12:37934477-37934478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35917823	chr12:37934497-37934498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541171597	chr12:37934511-37934512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560935244	chr12:37934512-37934513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530044260	chr12:37934523-37934524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs185811966	chr12:37934555-37934556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs141712003	chr12:37934594-37934595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532704992	chr12:37934604-37934605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189598260	chr12:37934605-37934606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs1973218	chr12:37934660-37934661	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534698245	chr12:37934700-37934701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76591801	chr12:37934717-37934718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548316101	chr12:37934719-37934720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568014293	chr12:37934728-37934729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37934000-37935000	ZNF genes & repeats	Spleen	Spleen
2	chr12:37934000-37942000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:37934000-37942400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:37936200-37942000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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