Variant report

Variant	nsv895426
Chromosome Location	chr10:55486017-55526557
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	chr10:55494993-55495303	IMR90	lung:	n/a	n/a
2	CEBPB	chr10:55495099-55495137	K562	blood:	n/a	n/a
3	CEBPB	chr10:55495022-55495339	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:55495107-55495314	A549	lung:	n/a	n/a
5	CHD1	chr10:55509966-55509970	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr10:55505420-55505570	HEK293	kidney:	n/a	n/a
7	CTCF	chr10:55505454-55505474	GM13976	blood:	n/a	n/a
8	CTCF	chr10:55495240-55495390	Caco-2	colon:	n/a	n/a
9	CTCF	chr10:55524100-55524203	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr10:55489186-55489262	GM10266	blood:	n/a	n/a
11	CTCF	chr10:55524100-55524202	GM10248	blood:	n/a	n/a
12	E2F4	chr10:55499586-55499784	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr10:55525146-55525434	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
14	FOS	chr10:55525124-55525472	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
15	FOS	chr10:55525124-55525451	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
16	FOS	chr10:55525146-55525447	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
17	FOSL2	chr10:55525156-55525422	SK-N-SH	brain:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
18	GATA3	chr10:55515402-55515674	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr10:55524964-55525667	SK-N-SH	brain:	n/a	chr10:55525399-55525415
20	GATA3	chr10:55496980-55497180	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr10:55521044-55521244	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr10:55492091-55492279	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr10:55524957-55525626	SK-N-SH	brain:	n/a	chr10:55525399-55525415
24	JUND	chr10:55525131-55525461	HepG2	liver:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525292-55525303 chr10:55525293-55525302
25	JUND	chr10:55525030-55525486	SK-N-SH	brain:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525292-55525303 chr10:55525293-55525302
26	JUND	chr10:55524956-55525595	SK-N-SH	brain:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525292-55525303 chr10:55525293-55525302
27	KAP1	chr10:55509249-55509524	HEK293	kidney:	n/a	n/a
28	MAFF	chr10:55524414-55524654	HepG2	liver:	n/a	chr10:55524502-55524520
29	MAFK	chr10:55524465-55524582	HepG2	liver:	n/a	chr10:55524504-55524519 chr10:55524481-55524498
30	MAFK	chr10:55509816-55509849	HepG2	liver:	n/a	n/a
31	MAFK	chr10:55511924-55512124	HepG2	liver:	n/a	chr10:55512059-55512070 chr10:55512060-55512071 chr10:55512060-55512071
32	MAFK	chr10:55524396-55524657	HepG2	liver:	n/a	chr10:55524504-55524519 chr10:55524481-55524498
33	MAZ	chr10:55512915-55513098	HepG2	liver:	n/a	n/a
34	MAZ	chr10:55502463-55502530	HepG2	liver:	n/a	n/a
35	MYC	chr10:55515820-55515906	MCF10A-Er-Src	breast:	n/a	n/a
36	NANOG	chr10:55504657-55504853	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr10:55509836-55509981	MCF10A-Er-Src	breast:	n/a	n/a
38	SETDB1	chr10:55509194-55509617	U2OS	brain:	n/a	n/a
39	STAT1	chr10:55493939-55493942	GM12878	blood:	n/a	n/a
40	STAT3	chr10:55506413-55506424	MCF10A-Er-Src	breast:	n/a	n/a
41	TBP	chr10:55504357-55504725	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr10:55524998-55525623	SK-N-SH	brain:	n/a	n/a
43	USF1	chr10:55506822-55507066	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZNF143	chr10:55509249-55509574	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF143	chr10:55504511-55504867	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DKK1-4	chr10:55526160-55526374	NONHSAT013453

Variant related genes	Relation type
ENSG00000233805	TF binding region

Extended variants
information (count: 743 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371376474	chr10:55486404-55486405	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs11003791	chr10:55486435-55486436	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532384120	chr10:55486457-55486458	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs552302577	chr10:55486460-55486461	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs377470696	chr10:55486496-55486497	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561816548	chr10:55486554-55486555	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529019402	chr10:55486558-55486559	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs114773936	chr10:55486582-55486583	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548329559	chr10:55486607-55486608	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs138738672	chr10:55486615-55486616	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs534470255	chr10:55486638-55486639	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7092532	chr10:55486641-55486642	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs56666370	chr10:55486714-55486715	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539059366	chr10:55486716-55486717	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs117294560	chr10:55486742-55486743	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576162757	chr10:55486768-55486769	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182209183	chr10:55486777-55486778	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs555571267	chr10:55486783-55486784	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572133981	chr10:55486784-55486785	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368051687	chr10:55486801-55486802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7081006	chr10:55486836-55486837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1095393	chr10:55486843-55486844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532582016	chr10:55486859-55486860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545752065	chr10:55486920-55486921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368317709	chr10:55486947-55486948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76377158	chr10:55486966-55486967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531666745	chr10:55486991-55486992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533215937	chr10:55487014-55487015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185170360	chr10:55487052-55487053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546835719	chr10:55487076-55487077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189880879	chr10:55487099-55487100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374656138	chr10:55487113-55487114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548388845	chr10:55487131-55487132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7081252	chr10:55487145-55487146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564179297	chr10:55487150-55487151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369897326	chr10:55487171-55487172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527859463	chr10:55487192-55487193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548115330	chr10:55487196-55487197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373054017	chr10:55487212-55487213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571045322	chr10:55487230-55487231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143733452	chr10:55487242-55487243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556147185	chr10:55487310-55487311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569786616	chr10:55487334-55487335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535580600	chr10:55487371-55487372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182496639	chr10:55487387-55487388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187333686	chr10:55487395-55487396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190587077	chr10:55487427-55487428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17441	chr10:55487460-55487461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183793603	chr10:55487464-55487465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577813384	chr10:55487485-55487486	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55486400-55486800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:55486400-55486800	ZNF genes & repeats	Pancreas	Pancrea
3	chr10:55486600-55488600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:55487400-55488400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr10:55488400-55491800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:55491800-55492800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr10:55491800-55493000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:55498200-55499000	Enhancers	Fetal Intestine Small	intestine
9	chr10:55504200-55504400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:55504400-55504800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:55504400-55504800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr10:55504400-55504800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:55504400-55505000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:55504400-55505200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr10:55504400-55505200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr10:55504400-55505200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr10:55505000-55505200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:55505200-55508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:55508000-55509400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:55514200-55515000	Active TSS	Fetal Lung	lung
21	chr10:55514400-55514800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr10:55514400-55514800	Active TSS	Fetal Stomach	stomach
23	chr10:55514400-55514800	Active TSS	Right Atrium	heart
24	chr10:55514800-55515800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:55515000-55515600	Enhancers	Fetal Lung	lung
26	chr10:55515800-55516000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr10:55521000-55521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:55522400-55523200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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