Variant report

Variant	nsv517279
Chromosome Location	chr7:3609712-3618143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
2	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
3	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:
4	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
5	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
6	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:

Extended variants
information (count: 583 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2141823	chr7:3609712-3609713	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140402639	chr7:3609715-3609716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535100278	chr7:3609718-3609719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546145933	chr7:3609750-3609751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566429347	chr7:3609788-3609789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553317767	chr7:3609799-3609800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369399524	chr7:3609811-3609812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10226719	chr7:3609821-3609822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188361851	chr7:3609851-3609852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575079366	chr7:3609852-3609853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191302036	chr7:3609857-3609858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556886410	chr7:3609915-3609916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557425939	chr7:3609921-3609922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577210123	chr7:3609925-3609926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149966812	chr7:3609928-3609929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183837535	chr7:3609960-3609961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573604954	chr7:3609994-3609995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557189371	chr7:3610007-3610008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146511948	chr7:3610008-3610009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114725270	chr7:3610052-3610053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141063055	chr7:3610056-3610057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386709470	chr7:3610088-3610089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564215584	chr7:3610089-3610090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2178625	chr7:3610090-3610091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543602610	chr7:3610098-3610099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546207404	chr7:3610108-3610109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566096542	chr7:3610143-3610144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189289063	chr7:3610183-3610184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553502044	chr7:3610197-3610198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575030070	chr7:3610199-3610200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529183582	chr7:3610201-3610202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542221331	chr7:3610202-3610203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192695738	chr7:3610203-3610204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565032443	chr7:3610209-3610210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548843368	chr7:3610225-3610226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569003330	chr7:3610255-3610256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538036109	chr7:3610262-3610263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557627421	chr7:3610279-3610280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10227320	chr7:3610303-3610304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs184501467	chr7:3610306-3610307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190124886	chr7:3610346-3610347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554729962	chr7:3610348-3610349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182065985	chr7:3610350-3610351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10951245	chr7:3610364-3610365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs184607454	chr7:3610369-3610370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35842450	chr7:3610381-3610382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575805911	chr7:3610398-3610399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544791035	chr7:3610408-3610409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559292128	chr7:3610411-3610412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368511483	chr7:3610415-3610416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3600600-3616600	Weak transcription	Gastric	stomach
2	chr7:3607200-3612400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:3608000-3612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:3608800-3610400	Enhancers	HepG2	liver
5	chr7:3609000-3609800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:3609000-3610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:3609000-3610200	Enhancers	Pancreas	Pancrea
8	chr7:3609200-3614000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3610000-3612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:3610200-3615800	Weak transcription	Pancreas	Pancrea
11	chr7:3610400-3614400	Weak transcription	HepG2	liver
12	chr7:3612000-3612400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:3612200-3613400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:3612400-3613400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:3612400-3617000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:3612600-3613400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:3612600-3614000	Enhancers	Stomach Mucosa	stomach
18	chr7:3612800-3613200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:3612800-3613400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:3612800-3613400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:3612800-3613600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:3612800-3613800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:3613000-3613800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:3613200-3625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:3613800-3615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:3614000-3614400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:3614000-3614400	Weak transcription	Stomach Mucosa	stomach
28	chr7:3614400-3616400	Enhancers	HepG2	liver
29	chr7:3614400-3616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:3614400-3617000	Enhancers	Stomach Mucosa	stomach
31	chr7:3614800-3615000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr7:3615600-3616000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:3615800-3616000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:3615800-3617200	Enhancers	Pancreas	Pancrea
35	chr7:3616600-3617000	ZNF genes & repeats	Gastric	stomach
36	chr7:3616600-3617200	ZNF genes & repeats	Aorta	Aorta
37	chr7:3616600-3617600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:3617000-3619200	Weak transcription	Stomach Mucosa	stomach
39	chr7:3617200-3620400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:3617200-3622600	Weak transcription	Pancreas	Pancrea
41	chr7:3617400-3618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:3617400-3622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:3617600-3630400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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