Variant report

Variant	nsv551053
Chromosome Location	chr10:57414554-57456261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr10:57432975-57433057	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr10:57428118-57428215	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr10:57452420-57452570	GM12875	blood:	n/a	n/a
4	CTCF	chr10:57427953-57428003	GM13977	blood:	n/a	n/a
5	CTCF	chr10:57427906-57428002	Gliobla	brain:	n/a	n/a
6	CTCF	chr10:57428220-57428370	NB4	blood:	n/a	n/a
7	CTCF	chr10:57428207-57428378	HepG2	liver:	n/a	n/a
8	CTCF	chr10:57428220-57428370	GM12868	blood:	n/a	n/a
9	CTCF	chr10:57428200-57428350	GM12870	blood:	n/a	n/a
10	CTCF	chr10:57428119-57428414	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr10:57428180-57428330	RPTEC	kidney:	n/a	n/a
12	CTCF	chr10:57428180-57428330	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr10:57428220-57428370	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:57428143-57428433	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr10:57428240-57428390	GM12872	blood:	n/a	n/a
16	CTCF	chr10:57428156-57428401	LNCaP	prostate:	n/a	n/a
17	CTCF	chr10:57428200-57428350	HRE	kidney:	n/a	n/a
18	CTCF	chr10:57428157-57428387	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr10:57428245-57428304	GM13976	blood:	n/a	n/a
20	CTCF	chr10:57427940-57428090	GM12872	blood:	n/a	n/a
21	CTCF	chr10:57428260-57428410	GM12864	blood:	n/a	n/a
22	CTCF	chr10:57428022-57428506	MCF-7	breast:	n/a	n/a
23	CTCF	chr10:57428206-57428325	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr10:57428200-57428350	GM12874	blood:	n/a	n/a
25	CTCF	chr10:57428153-57428154	LNCaP	prostate:	n/a	n/a
26	CTCF	chr10:57428120-57428270	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr10:57428197-57428350	HepG2	liver:	n/a	n/a
28	CTCF	chr10:57428160-57428310	HCT-116	colon:	n/a	n/a
29	CTCF	chr10:57428140-57428290	AG10803	skin:	n/a	n/a
30	CTCF	chr10:57428220-57428370	HMEC	breast:	n/a	n/a
31	CTCF	chr10:57428180-57428330	K562	blood:	n/a	n/a
32	CTCF	chr10:57428180-57428330	Caco-2	colon:	n/a	n/a
33	CTCF	chr10:57428240-57428390	NHEK	skin:	n/a	n/a
34	CTCF	chr10:57428194-57428390	Medullo	brain:	n/a	n/a
35	CTCF	chr10:57428180-57428330	HEK293	kidney:	n/a	n/a
36	CTCF	chr10:57428240-57428390	HMEC	breast:	n/a	n/a
37	CTCF	chr10:57428200-57428350	HL-60	blood:	n/a	n/a
38	CTCF	chr10:57433164-57433183	GM13976	blood:	n/a	n/a
39	CTCF	chr10:57428120-57428270	K562	blood:	n/a	n/a
40	CTCF	chr10:57428200-57428350	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr10:57428140-57428290	GM06990	blood:	n/a	n/a
42	CTCF	chr10:57428180-57428330	GM12873	blood:	n/a	n/a
43	CTCF	chr10:57428140-57428290	GM12865	blood:	n/a	n/a
44	CTCF	chr10:57428162-57428392	Gliobla	brain:	n/a	n/a
45	CTCF	chr10:57428180-57428330	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr10:57428240-57428390	GM06990	blood:	n/a	n/a
47	CTCF	chr10:57428160-57428310	GM12878	blood:	n/a	n/a
48	CTCF	chr10:57428200-57428350	HEK293	kidney:	n/a	n/a
49	CTCF	chr10:57428180-57428330	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr10:57428220-57428370	Caco-2	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:57448681-57448731	AoSMC	blood vessel:	n/a
2	chr10:57448681-57448731	NB4	blood:	n/a
3	chr10:57448681-57448731	K562	blood:	n/a
4	chr10:57448681-57448731	AG09319	gingival:	n/a
5	chr10:57448681-57448731	GM19239	blood:	n/a
6	chr10:57448681-57448731	HUVEC	blood vessel:	n/a
7	chr10:57448681-57448731	LNCaP	prostate:	n/a
8	chr10:57448681-57448731	HEK293	kidney:	embryo
9	chr10:57448681-57448731	GM12892	blood:	n/a
10	chr10:57448681-57448731	ovcar-3	ovarian:	n/a
11	chr10:57448681-57448731	SK-N-SH_RA	brain:	n/a
12	chr10:57448681-57448731	HAEpiC	amniotic membrane:	n/a
13	chr10:57448681-57448731	HEEpiC	esophagus:	n/a
14	chr10:57448681-57448731	MCF-7	breast:	n/a
15	chr10:57448681-57448731	HCF	heart:	n/a
16	chr10:57448681-57448731	BE2_C	brain:	n/a
17	chr10:57448681-57448731	AG04449	skin:	fetal
18	chr10:57448681-57448731	GM12878	blood:	n/a
19	chr10:57448681-57448731	HRCEpiC	kidney:	n/a
20	chr10:57448681-57448731	AG09309	skin:	n/a
21	chr10:57448681-57448731	HCM	heart:	n/a
22	chr10:57448681-57448731	GM06990	blood:	n/a
23	chr10:57448681-57448731	HNPCEpiC	eye:	n/a
24	chr10:57448681-57448731	ProgFib	skin:	n/a
25	chr10:57448681-57448731	SKMC	muscle:	n/a
26	chr10:57448681-57448731	T-47D	breast:	n/a
27	chr10:57448681-57448731	SAEC	small airway:	n/a
28	chr10:57448681-57448731	HRPEpiC	eye:	n/a
29	chr10:57448681-57448731	NH-A	brain:	n/a
30	chr10:57448681-57448731	AG10803	skin:	n/a
31	chr10:57448681-57448731	NHDF-neo	bronchial:	n/a
32	chr10:57448681-57448731	MCF10A-Er-Src	breast:	n/a
33	chr10:57448681-57448731	RPTEC	kidney:	n/a
34	chr10:57448681-57448731	HMEC	breast:	n/a
35	chr10:57448681-57448731	HL-60	blood:	n/a
36	chr10:57448681-57448731	A549	lung:	n/a
37	chr10:57448681-57448731	SK-N-MC	brain:	n/a
38	chr10:57448681-57448731	ECC-1	luminal epithelium:	n/a
39	chr10:57448681-57448731	HCPEpiC	choroid plexus:	n/a
40	chr10:57448681-57448731	Hepatocyte	liver:	n/a
41	chr10:57448681-57448731	HPAEpiC	pulmonary alveolar:	n/a
42	chr10:57448681-57448731	HRE	kidney:	n/a
43	chr10:57448681-57448731	HCT-116	colon:	n/a
44	chr10:57448681-57448731	Hela-S3	cervix:	n/a
45	chr10:57448681-57448731	SK-N-SH	brain:	n/a
46	chr10:57448681-57448731	PFSK-1	brain:	n/a
47	chr10:57448681-57448731	CMK	blood:	n/a
48	chr10:57448681-57448731	BJ	skin:	n/a
49	chr10:57448681-57448731	Jurkat	blood:	n/a
50	chr10:57448681-57448731	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:57409945..57412041-chr10:57413337..57415798,2	K562	blood:

No data

Variant related genes	Relation type
GAPDHP21	TF binding region
GAPDHP21	CpG island

Extended variants
information (count: 197 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs375584294	chr10:57426424-57426425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576599250	chr10:57426438-57426439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12256296	chr10:57426446-57426447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11004953	chr10:57426519-57426520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562067897	chr10:57426529-57426530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2177365	chr10:57426592-57426593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182193631	chr10:57426641-57426642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140807401	chr10:57426668-57426669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533058021	chr10:57426671-57426672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527906794	chr10:57426683-57426684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150140774	chr10:57426687-57426688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138719109	chr10:57426691-57426692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2392949	chr10:57426710-57426711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187307194	chr10:57426726-57426727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369202392	chr10:57426754-57426755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565815920	chr10:57426755-57426756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191748914	chr10:57426771-57426772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114815721	chr10:57426789-57426790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571111034	chr10:57426790-57426791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185477641	chr10:57426803-57426804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140281646	chr10:57426841-57426842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570209272	chr10:57426867-57426868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535702954	chr10:57426874-57426875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555405380	chr10:57426879-57426880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572226392	chr10:57426880-57426881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56875242	chr10:57426888-57426889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139273498	chr10:57426889-57426890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146859370	chr10:57426891-57426892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200291391	chr10:57426892-57426893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3043633	chr10:57426893-57426894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398054376	chr10:57426896-57426897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540977339	chr10:57426926-57426927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188197697	chr10:57426939-57426940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577992830	chr10:57427015-57427016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193265486	chr10:57427125-57427126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111842056	chr10:57427176-57427177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529070028	chr10:57427190-57427191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542474413	chr10:57427198-57427199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1574191	chr10:57427215-57427216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185425789	chr10:57427228-57427229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551540788	chr10:57427240-57427241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571260030	chr10:57427243-57427244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530450564	chr10:57427262-57427263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550433174	chr10:57427264-57427265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570267107	chr10:57427276-57427277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536018004	chr10:57427312-57427313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116123130	chr10:57427354-57427355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550562611	chr10:57427358-57427359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565792991	chr10:57427403-57427404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs137873229	chr10:57427451-57427452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57426400-57428600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:57427400-57427600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:57428200-57430400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:57430200-57430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:57430400-57430800	Enhancers	Primary hematopoietic stem cells	blood

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