Variant report

Variant	nsv1052057
Chromosome Location	chr10:55551887-55581651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:55572413-55572622	H1-hESC	embryonic stem cell:	n/a	chr10:55572521-55572530 chr10:55572521-55572530 chr10:55572519-55572532 chr10:55572521-55572530
2	CEBPB	chr10:55577616-55577876	HepG2	liver:	n/a	n/a
3	CEBPB	chr10:55572397-55572600	HepG2	liver:	n/a	chr10:55572521-55572530 chr10:55572521-55572530 chr10:55572519-55572532 chr10:55572521-55572530
4	CEBPB	chr10:55573444-55573642	HepG2	liver:	n/a	chr10:55573508-55573519
5	CTCF	chr10:55568433-55568786	MCF-7	breast:	n/a	n/a
6	CTCF	chr10:55568539-55568736	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr10:55568560-55568710	Caco-2	colon:	n/a	n/a
8	CTCF	chr10:55568600-55568750	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr10:55568560-55568710	HEK293	kidney:	n/a	n/a
10	CTCF	chr10:55568540-55568690	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr10:55568540-55568690	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr10:55568500-55568650	SAEC	small airway:	n/a	n/a
13	CTCF	chr10:55568484-55568802	T-47D	breast:	n/a	n/a
14	CTCF	chr10:55568500-55568650	BE2_C	brain:	n/a	n/a
15	CTCF	chr10:55568640-55568790	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr10:55568567-55568709	MCF-7	breast:	n/a	n/a
17	CTCF	chr10:55572247-55572258	GM20000	blood:	n/a	n/a
18	CTCF	chr10:55568500-55568650	A549	lung:	n/a	n/a
19	CTCF	chr10:55568612-55568688	HepG2	liver:	n/a	n/a
20	CTCF	chr10:55568560-55568710	HepG2	liver:	n/a	n/a
21	CTCF	chr10:55568407-55568757	MCF-7	breast:	n/a	n/a
22	CTCF	chr10:55568600-55568750	HMEC	breast:	n/a	n/a
23	CTCF	chr10:55568540-55568690	BE2_C	brain:	n/a	n/a
24	CTCF	chr10:55564321-55564371	GM20000	blood:	n/a	n/a
25	CTCF	chr10:55568580-55568730	Caco-2	colon:	n/a	n/a
26	CTCF	chr10:55568600-55568750	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr10:55568524-55568786	GM12878	blood:	n/a	n/a
28	CTCF	chr10:55568586-55568720	LNCaP	prostate:	n/a	n/a
29	CTCF	chr10:55568560-55568710	RPTEC	kidney:	n/a	n/a
30	CTCF	chr10:55568460-55568610	HMEC	breast:	n/a	n/a
31	CTCF	chr10:55568544-55568762	Gliobla	brain:	n/a	n/a
32	CTCF	chr10:55568609-55568708	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr10:55568591-55568714	MCF-7	breast:	n/a	n/a
34	CTCF	chr10:55568578-55568689	NHEK	skin:	n/a	n/a
35	CTCF	chr10:55568620-55568677	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr10:55568588-55568705	Medullo	brain:	n/a	n/a
37	CTCF	chr10:55568620-55568770	MCF-7	breast:	n/a	n/a
38	CTCF	chr10:55568600-55568750	RPTEC	kidney:	n/a	n/a
39	CTCF	chr10:55568528-55568768	MCF-7	breast:	n/a	n/a
40	CTCF	chr10:55568540-55568690	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:55568548-55568686	HepG2	liver:	n/a	n/a
42	CTCF	chr10:55568529-55568755	MCF-7	breast:	n/a	n/a
43	GTF2F1	chr10:55570137-55570193	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUN	chr10:55562268-55562385	K562	blood:	n/a	chr10:55562343-55562350
45	MAFK	chr10:55563622-55563873	HepG2	liver:	n/a	n/a
46	MAFK	chr10:55563604-55563927	HepG2	liver:	n/a	n/a
47	MAFK	chr10:55574661-55574932	HepG2	liver:	n/a	n/a
48	MYC	chr10:55568603-55568605	NB4	blood:	n/a	n/a
49	NFYA	chr10:55581143-55581366	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr10:55569061-55569238	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:55568997-55569047	AG04450	lung:	fetal
2	chr10:55568997-55569047	SAEC	small airway:	n/a
3	chr10:55568997-55569047	SK-N-MC	brain:	n/a
4	chr10:55568997-55569047	Jurkat	blood:	n/a
5	chr10:55568997-55569047	Caco-2	colon:	n/a
6	chr10:55568997-55569047	HAEpiC	amniotic membrane:	n/a
7	chr10:55568997-55569047	HRCEpiC	kidney:	n/a
8	chr10:55568997-55569047	A549	lung:	n/a
9	chr10:55568997-55569047	AG09319	gingival:	n/a
10	chr10:55568997-55569047	HPAEpiC	pulmonary alveolar:	n/a
11	chr10:55568997-55569047	SK-N-SH_RA	brain:	n/a
12	chr10:55568997-55569047	HEEpiC	esophagus:	n/a
13	chr10:55568997-55569047	HIPEpiC	eye:	n/a
14	chr10:55568997-55569047	BJ	skin:	n/a
15	chr10:55568997-55569047	HCT-116	colon:	n/a
16	chr10:55568997-55569047	HRE	kidney:	n/a
17	chr10:55568997-55569047	HL-60	blood:	n/a
18	chr10:55568997-55569047	HCPEpiC	choroid plexus:	n/a
19	chr10:55568997-55569047	LNCaP	prostate:	n/a
20	chr10:55568997-55569047	HNPCEpiC	eye:	n/a
21	chr10:55568997-55569047	NH-A	brain:	n/a
22	chr10:55568997-55569047	NB4	blood:	n/a
23	chr10:55568997-55569047	BE2_C	brain:	n/a
24	chr10:55568997-55569047	ProgFib	skin:	n/a
25	chr10:55568997-55569047	ovcar-3	ovarian:	n/a
26	chr10:55568997-55569047	Hela-S3	cervix:	n/a
27	chr10:55568997-55569047	MCF-7	breast:	n/a
28	chr10:55568997-55569047	GM06990	blood:	n/a
29	chr10:55568997-55569047	GM12892	blood:	n/a
30	chr10:55568997-55569047	HCF	heart:	n/a
31	chr10:55568997-55569047	NT2-D1	testis:	n/a
32	chr10:55568997-55569047	MCF10A-Er-Src	breast:	n/a
33	chr10:55568997-55569047	U87	brain:	n/a
34	chr10:55568997-55569047	AG10803	skin:	n/a
35	chr10:55568997-55569047	AoSMC	blood vessel:	n/a
36	chr10:55568997-55569047	K562	blood:	n/a
37	chr10:55568997-55569047	Hepatocyte	liver:	n/a
38	chr10:55568997-55569047	GM12878	blood:	n/a
39	chr10:55568997-55569047	IMR90	lung:	fetal
40	chr10:55568997-55569047	SKMC	muscle:	n/a
41	chr10:55568997-55569047	GM12891	blood:	n/a
42	chr10:55568997-55569047	ECC-1	luminal epithelium:	n/a
43	chr10:55568997-55569047	RPTEC	kidney:	n/a
44	chr10:55568997-55569047	SK-N-SH	brain:	n/a
45	chr10:55568997-55569047	PANC-1	pancreas:	n/a
46	chr10:55568997-55569047	GM19239	blood:	n/a
47	chr10:55568997-55569047	CMK	blood:	n/a
48	chr10:55568997-55569047	T-47D	breast:	n/a
49	chr10:55568997-55569047	AG04449	skin:	fetal
50	chr10:55568997-55569047	HEK293	kidney:	embryo

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:55549906..55552050-chr10:55558959..55560597,2	K562	blood:
2	chr10:55558585..55559152-chr17:58469714..58470538,2	MCF-7	breast:
3	chr10:55549906..55552050-chr10:55558959..55560597,2	K562	blood:
4	chr10:55360883..55361625-chr10:55568215..55569121,2	MCF-7	breast:
5	chr10:55057963..55058535-chr10:55568196..55569129,2	MCF-7	breast:

No data

Variant related genes	Relation type
PCDH15	TF binding region
PCDH15	CpG island
ENSG00000141371	chromatin interactions
ENSG00000170832	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558272074	chr10:55558589-55558590	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530997733	chr10:55558608-55558609	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376182472	chr10:55558609-55558610	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3065509	chr10:55558616-55558617	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs4584491	chr10:55558629-55558630	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34841589	chr10:55558640-55558641	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546700176	chr10:55558679-55558680	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566890792	chr10:55558698-55558699	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138177526	chr10:55558702-55558703	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs149559619	chr10:55558738-55558739	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11003855	chr10:55558759-55558760	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193070461	chr10:55558797-55558798	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555107528	chr10:55558800-55558801	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575051185	chr10:55558847-55558848	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1361806	chr10:55558855-55558856	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185070453	chr10:55558874-55558875	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs118060749	chr10:55558887-55558888	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545395234	chr10:55558944-55558945	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs117136494	chr10:55558954-55558955	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188727887	chr10:55558973-55558974	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531265840	chr10:55559002-55559003	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4522077	chr10:55559039-55559040	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192391255	chr10:55559085-55559086	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185092814	chr10:55559095-55559096	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188242422	chr10:55559096-55559097	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7478212	chr10:55559110-55559111	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374600363	chr10:55562428-55562429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550444973	chr10:55562444-55562445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16937763	chr10:55562463-55562464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141203590	chr10:55562511-55562512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546738794	chr10:55562531-55562532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566451444	chr10:55562543-55562544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538571916	chr10:55562562-55562563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186173287	chr10:55562673-55562674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577655394	chr10:55562682-55562683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74459175	chr10:55562692-55562693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554168893	chr10:55562709-55562710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574040038	chr10:55562718-55562719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10825112	chr10:55562795-55562796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373461322	chr10:55562798-55562799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144842019	chr10:55562825-55562826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116321896	chr10:55562826-55562827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545752800	chr10:55562832-55562833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528927771	chr10:55562835-55562836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565570787	chr10:55562839-55562840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530473074	chr10:55562871-55562872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75679096	chr10:55562909-55562910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35060340	chr10:55562916-55562917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541756757	chr10:55562999-55563000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11003860	chr10:55563013-55563014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55562400-55568600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:55566400-55566800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:55566400-55566800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:55566400-55567000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:55568400-55568600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:55568400-55569000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:55568600-55568800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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