Variant report

Variant	nsv607074
Chromosome Location	chr7:57612133-57669986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:57625009-57625034	K562	blood:	n/a	n/a
2	BATF	chr7:57667672-57667890	GM12878	blood:	n/a	n/a
3	BATF	chr7:57667657-57667934	GM12878	blood:	n/a	n/a
4	BATF	chr7:57650647-57650907	GM12878	blood:	n/a	n/a
5	BATF	chr7:57635362-57635498	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:57635305-57635594	GM12878	blood:	n/a	n/a
7	BRCA1	chr7:57651407-57651453	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:57634314-57634595	A549	lung:	n/a	chr7:57634431-57634442 chr7:57634474-57634483 chr7:57634432-57634443 chr7:57634474-57634485 chr7:57634472-57634483
9	CEBPB	chr7:57626204-57626872	IMR90	lung:	n/a	chr7:57626695-57626706
10	CEBPB	chr7:57626231-57626862	A549	lung:	n/a	chr7:57626695-57626706
11	CEBPB	chr7:57659472-57659639	K562	blood:	n/a	n/a
12	CEBPB	chr7:57634333-57634591	K562	blood:	n/a	chr7:57634431-57634442 chr7:57634474-57634483 chr7:57634432-57634443 chr7:57634474-57634485 chr7:57634472-57634483
13	CEBPB	chr7:57626151-57626885	HepG2	liver:	n/a	chr7:57626695-57626706
14	CEBPB	chr7:57612772-57613095	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr7:57612867-57613067	K562	blood:	n/a	n/a
16	CEBPB	chr7:57634292-57634596	IMR90	lung:	n/a	chr7:57634431-57634442 chr7:57634474-57634483 chr7:57634432-57634443 chr7:57634474-57634485 chr7:57634472-57634483
17	CEBPB	chr7:57626529-57626874	K562	blood:	n/a	chr7:57626695-57626706
18	CEBPB	chr7:57634309-57634600	HepG2	liver:	n/a	chr7:57634431-57634442 chr7:57634474-57634483 chr7:57634432-57634443 chr7:57634474-57634485 chr7:57634472-57634483
19	CHD2	chr7:57621489-57621677	K562	blood:	n/a	n/a
20	CHD2	chr7:57623182-57623237	K562	blood:	n/a	n/a
21	CHD2	chr7:57627096-57627154	K562	blood:	n/a	n/a
22	CHD2	chr7:57628321-57628627	K562	blood:	n/a	n/a
23	CHD2	chr7:57626203-57626699	K562	blood:	n/a	n/a
24	CTCF	chr7:57624598-57624642	A549	lung:	n/a	n/a
25	CTCF	chr7:57658368-57658452	LNCaP	prostate:	n/a	n/a
26	CTCF	chr7:57635723-57635805	GM10248	blood:	n/a	n/a
27	CTCF	chr7:57625263-57625288	GM13976	blood:	n/a	n/a
28	CTCF	chr7:57625285-57625324	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr7:57635540-57635545	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr7:57639960-57639971	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:57617122-57617160	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr7:57612940-57613090	GM12801	blood:	n/a	n/a
33	CTCF	chr7:57635468-57635539	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr7:57651480-57651630	AG10803	skin:	n/a	n/a
35	E2F4	chr7:57626373-57626393	MCF10A-Er-Src	breast:	n/a	n/a
36	EBF1	chr7:57650732-57650966	GM12878	blood:	n/a	n/a
37	EBF1	chr7:57650736-57650910	GM12878	blood:	n/a	n/a
38	EP300	chr7:57627602-57627665	GM12878	blood:	n/a	n/a
39	EP300	chr7:57612873-57613288	K562	blood:	n/a	n/a
40	GATA2	chr7:57626308-57626669	K562	blood:	n/a	n/a
41	GATA2	chr7:57659363-57659642	K562	blood:	n/a	n/a
42	GATA2	chr7:57634001-57634505	K562	blood:	n/a	chr7:57634336-57634346
43	GATA2	chr7:57633641-57633998	K562	blood:	n/a	chr7:57633804-57633814
44	GATA3	chr7:57639082-57639419	T-47D	breast:	n/a	n/a
45	GATA3	chr7:57639115-57639486	T-47D	breast:	n/a	n/a
46	HEY1	chr7:57639598-57639784	HepG2	liver:	n/a	n/a
47	HEY1	chr7:57637149-57637769	K562	blood:	n/a	n/a
48	HEY1	chr7:57640059-57640327	K562	blood:	n/a	n/a
49	HEY1	chr7:57637926-57638533	K562	blood:	n/a	n/a
50	HEY1	chr7:57639247-57639546	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57639252-57639302	MCF-7	breast:	n/a
2	chr7:57639299-57639349	HEEpiC	esophagus:	n/a
3	chr7:57639360-57639410	AG10803	skin:	n/a
4	chr7:57639360-57639410	PrEC	prostate:	n/a
5	chr7:57639299-57639349	RPTEC	kidney:	n/a
6	chr7:57639252-57639302	H1-hESC	embryonic stem cell:	embryo
7	chr7:57639360-57639410	GM06990	blood:	n/a
8	chr7:57639299-57639349	NB4	blood:	n/a
9	chr7:57639360-57639410	GM12878	blood:	n/a
10	chr7:57639252-57639302	HNPCEpiC	eye:	n/a
11	chr7:57639299-57639349	NT2-D1	testis:	n/a
12	chr7:57639252-57639302	U87	brain:	n/a
13	chr7:57639252-57639302	PFSK-1	brain:	n/a
14	chr7:57639360-57639410	HEK293	kidney:	embryo
15	chr7:57639252-57639302	HCPEpiC	choroid plexus:	n/a
16	chr7:57639252-57639302	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:57639360-57639410	HCM	heart:	n/a
18	chr7:57639252-57639302	PANC-1	pancreas:	n/a
19	chr7:57639299-57639349	HRCEpiC	kidney:	n/a
20	chr7:57639252-57639302	T-47D	breast:	n/a
21	chr7:57639360-57639410	AG09309	skin:	n/a
22	chr7:57639360-57639410	NHBE	bronchial:	n/a
23	chr7:57639299-57639349	HepG2	liver:	n/a
24	chr7:57639299-57639349	NHBE	bronchial:	n/a
25	chr7:57639252-57639302	NB4	blood:	n/a
26	chr7:57639299-57639349	LNCaP	prostate:	n/a
27	chr7:57639299-57639349	HCT-116	colon:	n/a
28	chr7:57639360-57639410	PFSK-1	brain:	n/a
29	chr7:57639252-57639302	AG10803	skin:	n/a
30	chr7:57639252-57639302	RPTEC	kidney:	n/a
31	chr7:57639360-57639410	SK-N-MC	brain:	n/a
32	chr7:57639299-57639349	GM19239	blood:	n/a
33	chr7:57639299-57639349	PFSK-1	brain:	n/a
34	chr7:57639360-57639410	AG04449	skin:	fetal
35	chr7:57639299-57639349	HL-60	blood:	n/a
36	chr7:57639360-57639410	HUVEC	blood vessel:	n/a
37	chr7:57639299-57639349	U87	brain:	n/a
38	chr7:57639299-57639349	Caco-2	colon:	n/a
39	chr7:57639252-57639302	HUVEC	blood vessel:	n/a
40	chr7:57639360-57639410	Hepatocyte	liver:	n/a
41	chr7:57639360-57639410	NH-A	brain:	n/a
42	chr7:57639360-57639410	NT2-D1	testis:	n/a
43	chr7:57639299-57639349	HUVEC	blood vessel:	n/a
44	chr7:57639299-57639349	AG04449	skin:	fetal
45	chr7:57639299-57639349	NHDF-neo	bronchial:	n/a
46	chr7:57639360-57639410	ovcar-3	ovarian:	n/a
47	chr7:57639252-57639302	AG09319	gingival:	n/a
48	chr7:57639252-57639302	GM12878	blood:	n/a
49	chr7:57639299-57639349	GM06990	blood:	n/a
50	chr7:57639252-57639302	GM06990	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:26130778..26134198-chr7:57619861..57623955,5	K562	blood:
2	chr20:26131190..26134756-chr7:57619861..57622623,3	K562	blood:
3	chr17:21513323..21515345-chr7:57633825..57635715,2	K562	blood:

No data

Variant related genes	Relation type
NCOR1P3	TF binding region
NCOR1P3	CpG island

Extended variants
information (count: 478 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555943181	chr7:57612404-57612405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201414207	chr7:57612408-57612409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368031595	chr7:57612433-57612434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200863043	chr7:57612437-57612438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73700458	chr7:57612441-57612442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140725697	chr7:57612466-57612467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs541456583	chr7:57612471-57612472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs143975598	chr7:57612480-57612481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115029508	chr7:57612496-57612497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs377653884	chr7:57612504-57612505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186537730	chr7:57612506-57612507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs367996302	chr7:57612522-57612523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201289334	chr7:57612533-57612534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2966455	chr7:57612544-57612545	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2966454	chr7:57612577-57612578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs78202843	chr7:57612580-57612581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74822064	chr7:57612588-57612589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs78680868	chr7:57612615-57612616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs143460995	chr7:57612623-57612624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs113328176	chr7:57612639-57612640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549959048	chr7:57612657-57612658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569208575	chr7:57612678-57612679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs199904068	chr7:57612680-57612681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201002489	chr7:57612693-57612694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530263406	chr7:57612695-57612696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548595171	chr7:57612696-57612697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs566909821	chr7:57612705-57612706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs78288875	chr7:57612719-57612720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113121933	chr7:57612721-57612722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76730884	chr7:57612722-57612723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs76961196	chr7:57612727-57612728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs150043159	chr7:57612741-57612742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148834458	chr7:57612751-57612752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138292558	chr7:57612762-57612763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148594785	chr7:57612768-57612769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs75084056	chr7:57612769-57612770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs574438850	chr7:57612773-57612774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535569891	chr7:57612786-57612787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553329702	chr7:57612802-57612803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs74298337	chr7:57612811-57612812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs79042391	chr7:57612834-57612835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs34756421	chr7:57612871-57612872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11772304	chr7:57612872-57612873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs73700459	chr7:57612882-57612883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73700460	chr7:57612883-57612884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs564000372	chr7:57612884-57612885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs576290032	chr7:57612890-57612891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368192814	chr7:57612899-57612900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73351557	chr7:57612916-57612917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78845647	chr7:57612932-57612933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57612400-57613200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr7:57612400-57613400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr7:57612800-57613200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr7:57613000-57613200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:57624200-57625000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:57639200-57641400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:57656400-57657200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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