Variant report

Variant	nsv970808
Chromosome Location	chr7:27366240-27369215
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	CTCF	chr7:27368240-27368390	GM12864	blood:	n/a	n/a
2	FOS	chr7:27366507-27366789	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr7:27366502-27366706	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr7:27368499-27368691	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF7L2	chr7:27366679-27366957	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27238414-27242313..7:27354053-27367655	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-19	chr7:27367987-27368114	NONHSAT119729

Variant related genes	Relation type
HNRNPA1P73	TF binding region
ENSG00000106031	chromatin interactions
ENSG00000243766	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577013712	chr7:27366258-27366259	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs71923622	chr7:27366288-27366289	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77616506	chr7:27366300-27366301	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544381466	chr7:27366311-27366312	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562534089	chr7:27366316-27366317	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs13236360	chr7:27366321-27366322	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185437042	chr7:27366322-27366323	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs17473985	chr7:27366354-27366355	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7811453	chr7:27366422-27366423	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11983963	chr7:27366433-27366434	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552177692	chr7:27366485-27366486	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs28357200	chr7:27366532-27366533	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189918084	chr7:27366575-27366576	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536217684	chr7:27366581-27366582	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537961345	chr7:27366598-27366599	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549905183	chr7:27366614-27366615	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182954145	chr7:27366680-27366681	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1990122	chr7:27366746-27366747	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554154981	chr7:27366751-27366752	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572715183	chr7:27366761-27366762	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532159040	chr7:27366769-27366770	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373537438	chr7:27366774-27366775	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558595325	chr7:27366821-27366822	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566534611	chr7:27366871-27366872	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs576954474	chr7:27366893-27366894	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544321217	chr7:27366983-27366984	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186599192	chr7:27366993-27366994	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs139954128	chr7:27367000-27367001	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs143507395	chr7:27367016-27367017	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs150759192	chr7:27367051-27367052	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527584701	chr7:27367069-27367070	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs207467749	chr7:27367144-27367145	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552114508	chr7:27367156-27367157	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565812766	chr7:27367178-27367179	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs564133139	chr7:27367252-27367253	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139151419	chr7:27367269-27367270	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557337899	chr7:27367280-27367281	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192438765	chr7:27367294-27367295	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146433338	chr7:27367331-27367332	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568576315	chr7:27367332-27367333	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535640994	chr7:27367336-27367337	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs574001168	chr7:27367356-27367357	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542565689	chr7:27367394-27367395	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs183777306	chr7:27367421-27367422	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs566335985	chr7:27367423-27367424	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540127822	chr7:27367471-27367472	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558535539	chr7:27367536-27367537	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576883212	chr7:27367550-27367551	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115141907	chr7:27367558-27367559	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs17428841	chr7:27367574-27367575	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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