Variant report

Variant	nsv895477
Chromosome Location	chr10:57078245-57207096
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	BATF	chr10:57142366-57142608	GM12878	blood:	n/a	chr10:57142479-57142489 chr10:57142478-57142489
3	BHLHE40	chr10:57206631-57206648	GM12878	blood:	n/a	n/a
4	BRCA1	chr10:57091511-57091621	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr10:57094577-57094601	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr10:57162077-57162382	HepG2	liver:	n/a	chr10:57162197-57162208
7	CEBPB	chr10:57130696-57130958	IMR90	lung:	n/a	chr10:57130811-57130822
8	CEBPB	chr10:57128479-57128741	A549	lung:	n/a	chr10:57128618-57128631 chr10:57128620-57128629 chr10:57128620-57128629 chr10:57128620-57128629
9	CEBPB	chr10:57090142-57090629	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr10:57130666-57130959	HepG2	liver:	n/a	chr10:57130811-57130822
11	CEBPB	chr10:57128461-57128779	HepG2	liver:	n/a	chr10:57128618-57128631 chr10:57128620-57128629 chr10:57128620-57128629 chr10:57128620-57128629
12	CEBPB	chr10:57082447-57082681	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr10:57128470-57128745	IMR90	lung:	n/a	chr10:57128618-57128631 chr10:57128620-57128629 chr10:57128620-57128629 chr10:57128620-57128629
14	CEBPB	chr10:57112618-57112952	HepG2	liver:	n/a	chr10:57112784-57112795
15	CEBPB	chr10:57129864-57130320	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr10:57128529-57128721	K562	blood:	n/a	chr10:57128618-57128631 chr10:57128620-57128629 chr10:57128620-57128629 chr10:57128620-57128629
17	CEBPB	chr10:57129959-57130282	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr10:57160670-57160765	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr10:57170463-57170691	LNCaP	prostate:	n/a	chr10:57170551-57170572
20	CTCF	chr10:57170460-57170610	HBMEC	blood vessel:	n/a	chr10:57170551-57170572
21	CTCF	chr10:57170460-57170610	Hela-S3	cervix:	n/a	chr10:57170551-57170572
22	CTCF	chr10:57193740-57193890	HepG2	liver:	n/a	n/a
23	CTCF	chr10:57170520-57170670	HRPEpiC	eye:	n/a	chr10:57170551-57170572
24	CTCF	chr10:57170449-57170696	Gliobla	brain:	n/a	chr10:57170551-57170572
25	CTCF	chr10:57170487-57170651	MCF-7	breast:	n/a	chr10:57170551-57170572
26	CTCF	chr10:57170500-57170650	HFF-Myc	foreskin:	n/a	chr10:57170551-57170572
27	CTCF	chr10:57193893-57193977	MCF-7	breast:	n/a	n/a
28	CTCF	chr10:57172040-57172190	Caco-2	colon:	n/a	n/a
29	CTCF	chr10:57170460-57170610	HRE	kidney:	n/a	chr10:57170551-57170572
30	CTCF	chr10:57170500-57170650	Caco-2	colon:	n/a	chr10:57170551-57170572
31	CTCF	chr10:57170374-57170743	SK-N-SH_RA	brain:	n/a	chr10:57170551-57170572
32	CTCF	chr10:57170480-57170630	HPF	lung:	n/a	chr10:57170551-57170572
33	CTCF	chr10:57170480-57170630	HMEC	breast:	n/a	chr10:57170551-57170572
34	CTCF	chr10:57170450-57170648	SK-N-SH_RA	brain:	n/a	chr10:57170551-57170572
35	CTCF	chr10:57160520-57160670	BE2_C	brain:	n/a	n/a
36	CTCF	chr10:57170161-57170814	SK-N-SH	brain:	n/a	chr10:57170551-57170572
37	CTCF	chr10:57170440-57170590	BE2_C	brain:	n/a	chr10:57170551-57170572
38	CTCF	chr10:57170489-57170622	Lung_OC	lung:	n/a	chr10:57170551-57170572
39	CTCF	chr10:57170493-57170647	Pancreas_OC	pancreas:	n/a	chr10:57170551-57170572
40	CTCF	chr10:57170462-57170674	MCF-7	breast:	n/a	chr10:57170551-57170572
41	CTCF	chr10:57170468-57170665	MCF-7	breast:	n/a	chr10:57170551-57170572
42	CTCF	chr10:57170500-57170650	SK-N-SH_RA	brain:	n/a	chr10:57170551-57170572
43	CTCF	chr10:57170480-57170630	WERI-Rb-1	eye:	n/a	chr10:57170551-57170572
44	CTCF	chr10:57142656-57142707	Medullo	brain:	n/a	n/a
45	CTCF	chr10:57170495-57170649	H1-hESC	embryonic stem cell:	n/a	chr10:57170551-57170572
46	CTCF	chr10:57160960-57161110	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr10:57170500-57170650	AG10803	skin:	n/a	chr10:57170551-57170572
48	CTCF	chr10:57160645-57160761	LNCaP	prostate:	n/a	n/a
49	CTCF	chr10:57170394-57170688	MCF-7	breast:	n/a	chr10:57170551-57170572
50	CTCF	chr10:57170502-57170639	MCF-7	breast:	n/a	chr10:57170551-57170572

No.	Distal block	Cell Line	Cell type
1	chr10:57128438..57131267-chr10:57136615..57139314,2	K562	blood:
2	chr10:57154707..57155371-chr10:83749526..83750393,2	MCF-7	breast:
3	chr10:57177168..57179759-chr10:57181346..57183496,2	K562	blood:
4	chr10:57177168..57179759-chr10:57181346..57183496,2	K562	blood:
5	chr10:57077687..57079914-chr10:57092227..57093981,2	K562	blood:
6	chr10:57128438..57131267-chr10:57136615..57139314,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZWINT-4	chr10:57125852-57125973	ENSG00000236744.1
2	lnc-ZWINT-4	chr10:57125852-57125973	ENSG00000236744.2

Variant related genes	Relation type
PCDH15	TF binding region
ENSG00000150275	chromatin interactions

Extended variants
information (count: 1844 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1844 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

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:66)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	20962326	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

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
9	chr10:57090600-57091000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:57091000-57094800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:57094800-57096800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:57096400-57097200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:57108400-57109000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:57108600-57109000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:57111000-57111800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr10:57111000-57112400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:57111200-57111600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:57111200-57111800	Enhancers	Brain Germinal Matrix	brain
19	chr10:57111400-57111800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr10:57116600-57116800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:57116800-57117800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:57117800-57119800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:57125000-57125600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:57125600-57129800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:57128400-57132600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:57128800-57130800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:57129400-57130400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:57129400-57130600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:57129600-57130800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:57129800-57130200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:57130200-57130800	Enhancers	NHDF-Ad	bronchial
32	chr10:57130800-57133400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr10:57130800-57134600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:57130800-57135400	Weak transcription	NHDF-Ad	bronchial
35	chr10:57132600-57134000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:57133400-57135600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr10:57134000-57134600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:57134000-57135800	Enhancers	HUVEC	blood vessel
39	chr10:57134600-57134800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:57134600-57135000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:57134800-57135000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:57135000-57135200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:57135000-57135200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:57135200-57135400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:57135200-57135400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:57135200-57135600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr10:57135400-57135600	Enhancers	NHDF-Ad	bronchial
48	chr10:57135400-57136800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:57135600-57140200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr10:57136800-57137800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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