Variant report

Variant	nsv887358
Chromosome Location	chr7:4349949-4416399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
2	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
3	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
4	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
5	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
6	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:

Extended variants
information (count: 717 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:717 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2107834	chr7:4349949-4349950	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs188918564	chr7:4349954-4349955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148356454	chr7:4349956-4349957	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549676402	chr7:4349969-4349970	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538884795	chr7:4349976-4349977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201553999	chr7:4349977-4349978	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs111290367	chr7:4349991-4349992	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568701659	chr7:4365210-4365211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149878078	chr7:4365217-4365218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551135893	chr7:4365227-4365228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570969149	chr7:4365250-4365251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539404932	chr7:4365253-4365254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553353476	chr7:4365275-4365276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34191630	chr7:4365283-4365284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59977800	chr7:4365299-4365300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182891581	chr7:4365311-4365312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62451142	chr7:4365313-4365314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187189061	chr7:4365334-4365335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193006878	chr7:4365363-4365364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563796834	chr7:4365368-4365369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577319972	chr7:4365372-4365373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377145466	chr7:4365391-4365392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539815562	chr7:4365403-4365404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146062175	chr7:4365430-4365431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528761668	chr7:4365435-4365436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548914086	chr7:4365497-4365498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562258236	chr7:4365498-4365499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368941017	chr7:4365521-4365522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551199976	chr7:4365533-4365534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182960380	chr7:4365546-4365547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60990628	chr7:4365577-4365578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79570771	chr7:4365578-4365579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188015830	chr7:4365584-4365585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141295785	chr7:4365608-4365609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555280046	chr7:4365613-4365614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146621255	chr7:4365616-4365617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537600480	chr7:4365620-4365621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557551087	chr7:4365665-4365666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577650676	chr7:4365709-4365710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192243762	chr7:4365710-4365711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553488061	chr7:4365724-4365725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184786725	chr7:4365735-4365736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187619523	chr7:4365748-4365749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562323250	chr7:4365755-4365756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531255801	chr7:4365762-4365763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192126439	chr7:4365769-4365770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148319036	chr7:4365784-4365785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114043157	chr7:4365828-4365829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141440218	chr7:4365844-4365845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528280777	chr7:4365847-4365848	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4349800-4350000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4365200-4366200	Enhancers	HepG2	liver
3	chr7:4376600-4378200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:4377600-4378000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:4377800-4378000	Bivalent Enhancer	HepG2	liver
6	chr7:4378000-4378200	Flanking Bivalent TSS/Enh	HepG2	liver
7	chr7:4378200-4378400	Bivalent Enhancer	HepG2	liver
8	chr7:4382800-4384400	Enhancers	HepG2	liver
9	chr7:4383200-4383400	Enhancers	Fetal Intestine Small	intestine
10	chr7:4383400-4383600	Flanking Active TSS	Fetal Intestine Small	intestine
11	chr7:4383400-4384000	Active TSS	Fetal Intestine Large	intestine
12	chr7:4383600-4384000	Active TSS	Fetal Intestine Small	intestine
13	chr7:4384000-4384200	Enhancers	Fetal Intestine Large	intestine
14	chr7:4384400-4384800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:4397600-4398000	Enhancers	Fetal Muscle Trunk	muscle
16	chr7:4397600-4398200	Enhancers	Fetal Muscle Leg	muscle
17	chr7:4397800-4398000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:4403000-4403600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:4403600-4404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:4404400-4406600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:4406600-4407200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:4408000-4410200	Weak transcription	Aorta	Aorta
23	chr7:4410200-4410800	ZNF genes & repeats	Aorta	Aorta
24	chr7:4410400-4410800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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