Variant report

Variant	nsv966783
Chromosome Location	chr7:39913292-39923658
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	CBX3	chr7:39921763-39922092	K562	blood:	n/a	n/a
2	CBX3	chr7:39921721-39922151	K562	blood:	n/a	n/a
3	CBX3	chr7:39921812-39922134	HCT-116	colon:	n/a	n/a
4	CEBPB	chr7:39922708-39922870	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr7:39920125-39920440	IMR90	lung:	n/a	chr7:39920278-39920289
6	CEBPB	chr7:39920167-39920452	A549	lung:	n/a	chr7:39920278-39920289
7	CEBPB	chr7:39920165-39920361	HepG2	liver:	n/a	chr7:39920278-39920289
8	CTCF	chr7:39915821-39915877	GM13976	blood:	n/a	n/a
9	CTCF	chr7:39913671-39913732	LNCaP	prostate:	n/a	n/a
10	CTCF	chr7:39915741-39915798	GM20000	blood:	n/a	n/a
11	CTCF	chr7:39916726-39916760	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr7:39914942-39914987	LNCaP	prostate:	n/a	n/a
13	CTCF	chr7:39917916-39917947	Lung_OC	lung:	n/a	n/a
14	CTCF	chr7:39913295-39913348	LNCaP	prostate:	n/a	n/a
15	E2F4	chr7:39923324-39923398	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr7:39920154-39920498	MCF10A-Er-Src	breast:	n/a	chr7:39920312-39920321
17	FOS	chr7:39920135-39920484	MCF10A-Er-Src	breast:	n/a	chr7:39920312-39920321
18	FOS	chr7:39920129-39920476	MCF10A-Er-Src	breast:	n/a	chr7:39920312-39920321
19	FOS	chr7:39920149-39920479	MCF10A-Er-Src	breast:	n/a	chr7:39920312-39920321
20	FOXA1	chr7:39923408-39923790	T-47D	breast:	n/a	chr7:39923725-39923737 chr7:39923729-39923741
21	FOXA1	chr7:39921967-39922292	HepG2	liver:	n/a	n/a
22	FOXA1	chr7:39922018-39922434	HepG2	liver:	n/a	n/a
23	FOXA1	chr7:39923513-39923697	T-47D	breast:	n/a	n/a
24	FOXA2	chr7:39922087-39922320	HepG2	liver:	n/a	n/a
25	KAP1	chr7:39921733-39922133	K562	blood:	n/a	n/a
26	KAP1	chr7:39921719-39922215	HEK293	kidney:	n/a	n/a
27	MAX	chr7:39922157-39922260	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr7:39920228-39920438	MCF10A-Er-Src	breast:	n/a	chr7:39920369-39920378 chr7:39920367-39920375 chr7:39920368-39920379
29	POLR2A	chr7:39920336-39920536	MCF10A-Er-Src	breast:	n/a	n/a
30	SETDB1	chr7:39921586-39922330	U2OS	brain:	n/a	n/a
31	SP1	chr7:39921958-39922325	H1-hESC	embryonic stem cell:	n/a	n/a
32	STAT3	chr7:39920240-39920443	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr7:39920110-39920475	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr7:39920142-39920474	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr7:39920152-39920391	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF12	chr7:39921985-39922323	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF12	chr7:39922083-39922354	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr7:39921935-39922408	H1-hESC	embryonic stem cell:	n/a	n/a
39	TEAD4	chr7:39921965-39922364	H1-hESC	embryonic stem cell:	n/a	n/a
40	TRIM28	chr7:39921722-39922094	K562	blood:	n/a	n/a
41	USF1	chr7:39920259-39920444	HepG2	liver:	n/a	chr7:39920367-39920378
42	USF2	chr7:39920215-39920531	HepG2	liver:	n/a	chr7:39920367-39920378
43	USF2	chr7:39920200-39920523	Hela-S3	cervix:	n/a	chr7:39920367-39920378
44	YY1	chr7:39920306-39920528	K562	blood:	n/a	chr7:39920433-39920452 chr7:39920439-39920447 chr7:39920428-39920450 chr7:39920438-39920450
45	YY1	chr7:39920367-39920649	SK-N-SH	brain:	n/a	chr7:39920433-39920452 chr7:39920439-39920447 chr7:39920428-39920450 chr7:39920438-39920450
46	YY1	chr7:39921879-39922419	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr7:39920284-39920639	H1-hESC	embryonic stem cell:	n/a	chr7:39920433-39920452 chr7:39920439-39920447 chr7:39920428-39920450 chr7:39920438-39920450
48	YY1	chr7:39920289-39920544	GM12892	blood:	n/a	chr7:39920433-39920452 chr7:39920439-39920447 chr7:39920428-39920450 chr7:39920438-39920450
49	YY1	chr7:39920257-39920675	H1-hESC	embryonic stem cell:	n/a	chr7:39920433-39920452 chr7:39920439-39920447 chr7:39920428-39920450 chr7:39920438-39920450
50	YY1	chr7:39921859-39922291	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39922523..39924083-chr7:40170762..40172465,2	K562	blood:
2	chr7:39920454..39923588-chr7:39927259..39930788,3	MCF-7	breast:
3	chr7:39912850..39915711-chr7:39987458..39990344,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL496P	TF binding region
ENSG00000065883	chromatin interactions
ENSG00000242855	chromatin interactions
ENSG00000259826	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6978120	chr7:39913409-39913410	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141078094	chr7:39913414-39913415	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184506292	chr7:39913421-39913422	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570818358	chr7:39913467-39913468	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533198662	chr7:39913479-39913480	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562674616	chr7:39913597-39913598	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs189272653	chr7:39913620-39913621	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192578556	chr7:39913683-39913684	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2091090	chr7:39913695-39913696	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535243210	chr7:39913704-39913705	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs150558662	chr7:39913724-39913725	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565395084	chr7:39913725-39913726	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553332022	chr7:39913742-39913743	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534403957	chr7:39913775-39913776	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184389871	chr7:39913804-39913805	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146169860	chr7:39913864-39913865	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs1880129	chr7:39913870-39913871	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2091091	chr7:39913926-39913927	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369333348	chr7:39913929-39913930	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556783172	chr7:39913945-39913946	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372447674	chr7:39914140-39914141	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2329540	chr7:39914142-39914143	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs563990833	chr7:39914204-39914205	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542397452	chr7:39914293-39914294	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2876893	chr7:39914329-39914330	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs2876894	chr7:39914333-39914334	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs370682885	chr7:39914336-39914337	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs3041230	chr7:39914340-39914341	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575974025	chr7:39914368-39914369	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1916683	chr7:39914379-39914380	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562278938	chr7:39914381-39914382	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113260333	chr7:39914384-39914385	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541490755	chr7:39914408-39914409	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545884422	chr7:39914493-39914494	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs1916684	chr7:39914545-39914546	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs1916685	chr7:39914587-39914588	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs533323332	chr7:39914618-39914619	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549927817	chr7:39914630-39914631	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569567478	chr7:39914663-39914664	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529159816	chr7:39914677-39914678	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564456521	chr7:39914732-39914733	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs189193290	chr7:39914746-39914747	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs565535605	chr7:39914749-39914750	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs528621718	chr7:39914759-39914760	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375536832	chr7:39914832-39914833	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534537547	chr7:39914885-39914886	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540709475	chr7:39914915-39914916	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs570993514	chr7:39914975-39914976	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181365304	chr7:39915033-39915034	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs28877122	chr7:39915038-39915039	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39913600-39914000	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:39913600-39916600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:39914600-39915600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:39914600-39915800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:39920000-39920200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:39920000-39920600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:39920000-39920800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:39920000-39922600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:39920200-39920400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:39920400-39920600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:39920600-39920800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:39921600-39922800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:39922000-39922600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr7:39922600-39922800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:39922800-39924000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:39922800-39927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:39923200-39923600	Enhancers	HUES48 Cell Line	embryonic stem cell

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