Variant report

Variant	nsv947627
Chromosome Location	chr10:57073626-57087455
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	ATF3	chr10:57082402-57082655	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr10:57082447-57082681	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOS	chr10:57085738-57085948	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr10:57085736-57085851	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr10:57085437-57086066	SK-N-SH	brain:	n/a	n/a
6	IRF3	chr10:57086846-57086850	GM12878	blood:	n/a	n/a
7	MAFF	chr10:57075925-57076062	K562	blood:	n/a	n/a
8	MAFF	chr10:57075855-57076147	HepG2	liver:	n/a	n/a
9	MAFK	chr10:57087390-57087448	HepG2	liver:	n/a	chr10:57087391-57087405
10	MAFK	chr10:57075844-57076151	HepG2	liver:	n/a	n/a
11	MAFK	chr10:57075844-57076167	HepG2	liver:	n/a	n/a
12	MAFK	chr10:57075970-57076055	K562	blood:	n/a	n/a
13	MAFK	chr10:57075851-57076097	IMR90	lung:	n/a	n/a
14	POLR2A	chr10:57079559-57079569	Gliobla	brain:	n/a	n/a
15	POLR2A	chr10:57080030-57080034	A549	lung:	n/a	n/a
16	POLR2A	chr10:57079869-57080012	A549	lung:	n/a	n/a
17	POLR2A	chr10:57079502-57079531	Gliobla	brain:	n/a	n/a
18	POLR2A	chr10:57084901-57085039	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr10:57080204-57080230	Gliobla	brain:	n/a	n/a
20	SETDB1	chr10:57081142-57081511	U2OS	brain:	n/a	n/a
21	STAT3	chr10:57086095-57086119	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:57070275..57072956-chr10:57073924..57076698,2	K562	blood:

Variant related genes	Relation type
PCDH15	TF binding region

Extended variants
information (count: 154 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371368226	chr10:57079415-57079416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191712407	chr10:57079418-57079419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57144743	chr10:57079461-57079462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570099381	chr10:57079495-57079496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568843665	chr10:57079506-57079507	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs532927122	chr10:57079543-57079544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549846657	chr10:57079591-57079592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536356507	chr10:57079629-57079630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183662573	chr10:57079633-57079634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59028423	chr10:57079643-57079644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115457928	chr10:57079651-57079652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543709043	chr10:57079660-57079661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555318350	chr10:57079662-57079663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57809835	chr10:57079700-57079701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535818409	chr10:57079701-57079702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34428322	chr10:57079720-57079721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554611586	chr10:57079787-57079788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115293535	chr10:57079810-57079811	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554242221	chr10:57079826-57079827	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs540535846	chr10:57079978-57079979	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs34984089	chr10:57079992-57079993	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546025684	chr10:57079996-57079997	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs187917413	chr10:57079999-57080000	Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs192340769	chr10:57080024-57080025	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534043308	chr10:57080026-57080027	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148809070	chr10:57080034-57080035	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs541972004	chr10:57080048-57080049	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558442424	chr10:57080049-57080050	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541785780	chr10:57080119-57080120	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72803858	chr10:57080188-57080189	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540920115	chr10:57080213-57080214	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs183635432	chr10:57080239-57080240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532894999	chr10:57080250-57080251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549622630	chr10:57080272-57080273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569700515	chr10:57080275-57080276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4114598	chr10:57080325-57080326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531833884	chr10:57080350-57080351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548827994	chr10:57080351-57080352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568654399	chr10:57080403-57080404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534536613	chr10:57080404-57080405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568503682	chr10:57080411-57080412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548104739	chr10:57080412-57080413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140192976	chr10:57080436-57080437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186558983	chr10:57080443-57080444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149891793	chr10:57080461-57080462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556395142	chr10:57080494-57080495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145816885	chr10:57080505-57080506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535541331	chr10:57080516-57080517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555186156	chr10:57080522-57080523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112252174	chr10:57080557-57080558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Autism	20858243	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57079400-57079600	Enhancers	Right Atrium	heart
2	chr10:57079400-57082600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:57079600-57079800	Weak transcription	Right Atrium	heart
4	chr10:57079800-57080000	ZNF genes & repeats	Right Atrium	heart
5	chr10:57079800-57080200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:57080200-57080600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:57082600-57083200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr10:57085600-57086000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links