Variant report

Variant	nsv551050
Chromosome Location	chr10:57408474-57463035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:192)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:192 , 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	chr10:57428199-57428378	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr10:57427953-57428003	GM13977	blood:	n/a	n/a
5	CTCF	chr10:57428140-57428290	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr10:57427940-57428090	GM12866	blood:	n/a	n/a
7	CTCF	chr10:57427840-57427990	GM12865	blood:	n/a	n/a
8	CTCF	chr10:57428200-57428350	GM12869	blood:	n/a	n/a
9	CTCF	chr10:57428220-57428370	GM12874	blood:	n/a	n/a
10	CTCF	chr10:57428200-57428350	GM12874	blood:	n/a	n/a
11	CTCF	chr10:57428200-57428350	HL-60	blood:	n/a	n/a
12	CTCF	chr10:57428197-57428350	HepG2	liver:	n/a	n/a
13	CTCF	chr10:57428200-57428350	GM12865	blood:	n/a	n/a
14	CTCF	chr10:57428147-57428401	GM12878	blood:	n/a	n/a
15	CTCF	chr10:57428199-57428335	K562	blood:	n/a	n/a
16	CTCF	chr10:57427982-57428505	MCF-7	breast:	n/a	n/a
17	CTCF	chr10:57428240-57428390	GM12867	blood:	n/a	n/a
18	CTCF	chr10:57428200-57428350	HEK293	kidney:	n/a	n/a
19	CTCF	chr10:57428220-57428370	GM12866	blood:	n/a	n/a
20	CTCF	chr10:57428220-57428370	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr10:57428220-57428370	BE2_C	brain:	n/a	n/a
22	CTCF	chr10:57428240-57428390	NHEK	skin:	n/a	n/a
23	CTCF	chr10:57428162-57428392	Gliobla	brain:	n/a	n/a
24	CTCF	chr10:57428140-57428290	GM12865	blood:	n/a	n/a
25	CTCF	chr10:57428220-57428370	HAc	cerebellar:	n/a	n/a
26	CTCF	chr10:57428197-57428384	MCF-7	breast:	n/a	n/a
27	CTCF	chr10:57428220-57428370	GM12868	blood:	n/a	n/a
28	CTCF	chr10:57428220-57428370	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:57428159-57428396	MCF-7	breast:	n/a	n/a
30	CTCF	chr10:57428194-57428390	Medullo	brain:	n/a	n/a
31	CTCF	chr10:57428216-57428355	GM20000	blood:	n/a	n/a
32	CTCF	chr10:57428180-57428330	GM12873	blood:	n/a	n/a
33	CTCF	chr10:57428220-57428370	NB4	blood:	n/a	n/a
34	CTCF	chr10:57428180-57428330	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr10:57428180-57428330	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr10:57428340-57428490	K562	blood:	n/a	n/a
37	CTCF	chr10:57428200-57428350	HRE	kidney:	n/a	n/a
38	CTCF	chr10:57462295-57462432	K562	blood:	n/a	n/a
39	CTCF	chr10:57428160-57428310	GM12864	blood:	n/a	n/a
40	CTCF	chr10:57428180-57428330	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr10:57428213-57428319	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr10:57428200-57428350	GM12873	blood:	n/a	n/a
43	CTCF	chr10:57428160-57428310	GM12878	blood:	n/a	n/a
44	CTCF	chr10:57427920-57428070	GM12873	blood:	n/a	n/a
45	CTCF	chr10:57428200-57428350	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr10:57428280-57428430	GM12864	blood:	n/a	n/a
47	CTCF	chr10:57428140-57428290	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr10:57427853-57428532	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr10:57452260-57452410	GM12875	blood:	n/a	n/a
50	CTCF	chr10:57428022-57428506	MCF-7	breast:	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	T-47D	breast:	n/a
2	chr10:57448681-57448731	RPTEC	kidney:	n/a
3	chr10:57448681-57448731	HCF	heart:	n/a
4	chr10:57448681-57448731	A549	lung:	n/a
5	chr10:57448681-57448731	NHDF-neo	bronchial:	n/a
6	chr10:57448681-57448731	SK-N-SH	brain:	n/a
7	chr10:57448681-57448731	HCT-116	colon:	n/a
8	chr10:57448681-57448731	HEEpiC	esophagus:	n/a
9	chr10:57448681-57448731	HIPEpiC	eye:	n/a
10	chr10:57448681-57448731	Hela-S3	cervix:	n/a
11	chr10:57448681-57448731	BJ	skin:	n/a
12	chr10:57448681-57448731	MCF10A-Er-Src	breast:	n/a
13	chr10:57448681-57448731	HNPCEpiC	eye:	n/a
14	chr10:57448681-57448731	HepG2	liver:	n/a
15	chr10:57448681-57448731	NB4	blood:	n/a
16	chr10:57448681-57448731	ProgFib	skin:	n/a
17	chr10:57448681-57448731	SKMC	muscle:	n/a
18	chr10:57448681-57448731	AG04449	skin:	fetal
19	chr10:57448681-57448731	AG04450	lung:	fetal
20	chr10:57448681-57448731	NT2-D1	testis:	n/a
21	chr10:57448681-57448731	Jurkat	blood:	n/a
22	chr10:57448681-57448731	K562	blood:	n/a
23	chr10:57448681-57448731	HPAEpiC	pulmonary alveolar:	n/a
24	chr10:57448681-57448731	PFSK-1	brain:	n/a
25	chr10:57448681-57448731	HEK293	kidney:	embryo
26	chr10:57448681-57448731	HRPEpiC	eye:	n/a
27	chr10:57448681-57448731	H1-hESC	embryonic stem cell:	embryo
28	chr10:57448681-57448731	HUVEC	blood vessel:	n/a
29	chr10:57448681-57448731	PANC-1	pancreas:	n/a
30	chr10:57448681-57448731	SAEC	small airway:	n/a
31	chr10:57448681-57448731	NH-A	brain:	n/a
32	chr10:57448681-57448731	AoSMC	blood vessel:	n/a
33	chr10:57448681-57448731	GM19239	blood:	n/a
34	chr10:57448681-57448731	AG09319	gingival:	n/a
35	chr10:57448681-57448731	CMK	blood:	n/a
36	chr10:57448681-57448731	HRE	kidney:	n/a
37	chr10:57448681-57448731	HL-60	blood:	n/a
38	chr10:57448681-57448731	GM12878	blood:	n/a
39	chr10:57448681-57448731	AG09309	skin:	n/a
40	chr10:57448681-57448731	Caco-2	colon:	n/a
41	chr10:57448681-57448731	LNCaP	prostate:	n/a
42	chr10:57448681-57448731	NHBE	bronchial:	n/a
43	chr10:57448681-57448731	GM06990	blood:	n/a
44	chr10:57448681-57448731	HCPEpiC	choroid plexus:	n/a
45	chr10:57448681-57448731	SK-N-SH_RA	brain:	n/a
46	chr10:57448681-57448731	AG10803	skin:	n/a
47	chr10:57448681-57448731	MCF-7	breast:	n/a
48	chr10:57448681-57448731	Hepatocyte	liver:	n/a
49	chr10:57448681-57448731	HMEC	breast:	n/a
50	chr10:57448681-57448731	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:57409945..57412041-chr10:57413337..57415798,2	K562	blood:
2	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: 221 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566615215	chr10:57408659-57408660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551589913	chr10:57408671-57408672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552184444	chr10:57408682-57408683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12248551	chr10:57408686-57408687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537770102	chr10:57408690-57408691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140552085	chr10:57408710-57408711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573887706	chr10:57408723-57408724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536496192	chr10:57408756-57408757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114258465	chr10:57408758-57408759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188442138	chr10:57413400-57413401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16907581	chr10:57413435-57413436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558350021	chr10:57413452-57413453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16907583	chr10:57413456-57413457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2461897	chr10:57413461-57413462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs193055146	chr10:57413523-57413524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369974461	chr10:57413594-57413595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112803383	chr10:57413714-57413715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184263792	chr10:57413740-57413741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528971906	chr10:57413759-57413760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139098312	chr10:57413775-57413776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149445443	chr10:57413790-57413791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559351468	chr10:57413861-57413862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528409449	chr10:57413923-57413924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368888240	chr10:57413933-57413934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375584294	chr10:57426424-57426425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576599250	chr10:57426438-57426439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12256296	chr10:57426446-57426447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11004953	chr10:57426519-57426520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562067897	chr10:57426529-57426530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2177365	chr10:57426592-57426593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182193631	chr10:57426641-57426642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140807401	chr10:57426668-57426669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533058021	chr10:57426671-57426672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527906794	chr10:57426683-57426684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150140774	chr10:57426687-57426688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138719109	chr10:57426691-57426692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2392949	chr10:57426710-57426711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187307194	chr10:57426726-57426727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369202392	chr10:57426754-57426755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565815920	chr10:57426755-57426756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191748914	chr10:57426771-57426772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114815721	chr10:57426789-57426790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571111034	chr10:57426790-57426791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185477641	chr10:57426803-57426804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140281646	chr10:57426841-57426842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570209272	chr10:57426867-57426868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535702954	chr10:57426874-57426875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555405380	chr10:57426879-57426880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572226392	chr10:57426880-57426881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56875242	chr10:57426888-57426889	Weak transcription	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57408600-57408800	Enhancers	Gastric	stomach
2	chr10:57413400-57413800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:57413400-57414000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:57426400-57428600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:57427400-57427600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:57428200-57430400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:57430200-57430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:57430400-57430800	Enhancers	Primary hematopoietic stem cells	blood

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