Variant report

Variant	nsv818473
Chromosome Location	chr7:3445311-3464896
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	CEBPB	chr7:3457543-3457997	H1-hESC	embryonic stem cell:	n/a	chr7:3457585-3457598 chr7:3457585-3457598
2	CTCF	chr7:3464411-3464473	MCF-7	breast:	n/a	n/a
3	EBF1	chr7:3448505-3448851	GM12878	blood:	n/a	n/a
4	EP300	chr7:3442781-3445607	SK-N-SH	brain:	n/a	chr7:3442936-3442950
5	GATA2	chr7:3450850-3451391	SH-SY5Y	brain:	n/a	n/a
6	GATA2	chr7:3464761-3464998	SH-SY5Y	brain:	n/a	chr7:3464869-3464878 chr7:3464922-3464931 chr7:3464921-3464931 chr7:3464922-3464929 chr7:3464920-3464932
7	GATA3	chr7:3445012-3445358	SH-SY5Y	brain:	n/a	chr7:3445267-3445283 chr7:3445274-3445281
8	GATA3	chr7:3451000-3451444	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr7:3455504-3455704	SH-SY5Y	brain:	n/a	chr7:3455515-3455523
10	GATA3	chr7:3455547-3456083	MCF-7	breast:	n/a	chr7:3455981-3455992
11	GATA3	chr7:3464776-3465123	SH-SY5Y	brain:	n/a	chr7:3464869-3464878 chr7:3464922-3464931 chr7:3464921-3464931 chr7:3464922-3464929 chr7:3464920-3464932
12	GATA3	chr7:3454813-3454894	SH-SY5Y	brain:	n/a	n/a
13	KAP1	chr7:3451864-3452928	HEK293	kidney:	n/a	n/a
14	KAP1	chr7:3455533-3456084	HEK293	kidney:	n/a	n/a
15	MAFK	chr7:3454846-3454887	IMR90	lung:	n/a	n/a
16	MYC	chr7:3446601-3446662	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:3456724-3456765	MCF-7	breast:	n/a	n/a
18	POLR2A	chr7:3444525-3445377	Raji	blood:	n/a	n/a
19	POLR2A	chr7:3446915-3447190	Raji	blood:	n/a	n/a
20	POLR2A	chr7:3448533-3448872	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr7:3447252-3447452	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr7:3463007-3463183	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr7:3450455-3450508	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:3448432-3448902	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr7:3456673-3456778	MCF-7	breast:	n/a	n/a
26	POLR2A	chr7:3448573-3449409	Raji	blood:	n/a	n/a
27	POLR2A	chr7:3460568-3460635	MCF10A-Er-Src	breast:	n/a	n/a
28	RCOR1	chr7:3448440-3448469	GM12878	blood:	n/a	n/a
29	SETDB1	chr7:3461650-3461980	U2OS	brain:	n/a	n/a
30	STAT3	chr7:3446053-3446253	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr7:3451843-3451946	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr7:3455564-3455764	MCF10A-Er-Src	breast:	n/a	n/a
33	TCF7L2	chr7:3455608-3455825	PANC-1	pancreas:	n/a	n/a
34	TCF7L2	chr7:3455369-3456064	HEK293	kidney:	n/a	n/a
35	ZNF143	chr7:3446304-3446338	GM12878	blood:	n/a	n/a
36	ZNF263	chr7:3455474-3456695	HEK293-T-REx	kidney:	n/a	chr7:3455915-3455924

No.	Distal block	Cell Line	Cell type
1	chr7:3444047..3446365-chr7:3452049..3455174,3	MCF-7	breast:
2	chr7:3438230..3440428-chr7:3448766..3450871,2	MCF-7	breast:
3	chr7:3443032..3445719-chr7:3938528..3940389,2	MCF-7	breast:
4	chr7:3444047..3446365-chr7:3452049..3455174,3	MCF-7	breast:
5	chr7:3441889..3444490-chr7:3452543..3454242,2	MCF-7	breast:
6	chr7:3463184..3466150-chr7:3469039..3471328,2	MCF-7	breast:
7	chr7:3240198..3242825-chr7:3445733..3447901,2	K562	blood:
8	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
9	chr7:3442245..3445067-chr7:3448256..3450121,2	MCF-7	breast:
10	chr7:3339718..3341766-chr7:3458306..3459954,2	K562	blood:
11	chr7:3452987..3455737-chr7:3457417..3460056,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211544	TF binding region
ENSG00000211544	chromatin interactions
ENSG00000146555	chromatin interactions

Extended variants
information (count: 1070 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1070 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6952184	chr7:3445311-3445312	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567971190	chr7:3445364-3445365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377698782	chr7:3445367-3445368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536993202	chr7:3445380-3445381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190905886	chr7:3445405-3445406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182369908	chr7:3445420-3445421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200396440	chr7:3445442-3445443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62437721	chr7:3445444-3445445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562651271	chr7:3445447-3445448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538822056	chr7:3445450-3445451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74816456	chr7:3445465-3445466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113345917	chr7:3445493-3445494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371273333	chr7:3445506-3445507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533577642	chr7:3445518-3445519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571760097	chr7:3445537-3445538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2009182	chr7:3445547-3445548	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552911400	chr7:3445563-3445564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6969455	chr7:3445578-3445579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574088176	chr7:3445599-3445600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537546567	chr7:3445621-3445622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386709465	chr7:3445636-3445637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543725432	chr7:3445641-3445642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376530709	chr7:3445692-3445693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563421601	chr7:3445694-3445695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370496775	chr7:3445702-3445703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545653368	chr7:3445704-3445705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565383679	chr7:3445734-3445735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191648354	chr7:3445741-3445742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183482614	chr7:3445742-3445743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553238812	chr7:3445744-3445745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561313413	chr7:3445766-3445767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202173422	chr7:3445770-3445771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374891930	chr7:3445799-3445800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111812748	chr7:3445803-3445804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11366306	chr7:3445812-3445813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570226137	chr7:3445891-3445892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539224931	chr7:3445924-3445925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73298359	chr7:3445926-3445927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565923738	chr7:3445969-3445970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144670411	chr7:3445970-3445971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534457260	chr7:3445989-3445990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574305458	chr7:3446001-3446002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186885784	chr7:3446047-3446048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs66665337	chr7:3446072-3446073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553803941	chr7:3446080-3446081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190196582	chr7:3446089-3446090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572283566	chr7:3446094-3446095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557246052	chr7:3446112-3446113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372334367	chr7:3446136-3446137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577020003	chr7:3446147-3446148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3437800-3448000	Weak transcription	Fetal Heart	heart
2	chr7:3443600-3446800	Enhancers	Fetal Lung	lung
3	chr7:3443800-3450200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:3444400-3446400	Weak transcription	Adipose Nuclei	Adipose
5	chr7:3444400-3451800	Weak transcription	Fetal Brain Female	brain
6	chr7:3444600-3446200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:3444600-3446200	Weak transcription	Fetal Kidney	kidney
8	chr7:3444800-3445800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3444800-3454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:3445000-3448800	Weak transcription	NHEK	skin
11	chr7:3445200-3446400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:3445200-3448400	Weak transcription	Fetal Brain Male	brain
13	chr7:3445800-3446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:3446000-3446200	Enhancers	Aorta	Aorta
15	chr7:3446000-3446200	Enhancers	Left Ventricle	heart
16	chr7:3446200-3446800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:3446200-3447000	Enhancers	Fetal Kidney	kidney
18	chr7:3446200-3447400	Weak transcription	Left Ventricle	heart
19	chr7:3446200-3449000	Weak transcription	Aorta	Aorta
20	chr7:3446400-3446800	Enhancers	Adipose Nuclei	Adipose
21	chr7:3446400-3447000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:3446800-3447600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:3446800-3448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:3446800-3448400	Weak transcription	Fetal Lung	lung
25	chr7:3447000-3447600	Enhancers	Pancreas	Pancrea
26	chr7:3447000-3457000	Weak transcription	Fetal Kidney	kidney
27	chr7:3447400-3447600	Enhancers	Left Ventricle	heart
28	chr7:3447600-3448600	Weak transcription	Left Ventricle	heart
29	chr7:3447600-3449000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:3447600-3450400	Weak transcription	Pancreas	Pancrea
31	chr7:3447800-3448000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:3448000-3449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:3448000-3449000	Enhancers	Fetal Heart	heart
34	chr7:3448400-3448800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:3448400-3449000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:3448400-3449000	Enhancers	Brain Germinal Matrix	brain
37	chr7:3448400-3449200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:3448400-3449400	Enhancers	Fetal Brain Male	brain
39	chr7:3448400-3449400	Enhancers	Fetal Lung	lung
40	chr7:3448400-3449400	Enhancers	HSMMtube	muscle
41	chr7:3448400-3449600	Enhancers	Primary T cells from cord blood	blood
42	chr7:3448600-3448800	Enhancers	Adipose Nuclei	Adipose
43	chr7:3448600-3449200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:3448600-3449200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:3448600-3449200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:3448600-3449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:3448600-3449400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:3448600-3449400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr7:3448800-3449200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr7:3448800-3449200	Enhancers	NHEK	skin

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