Variant report

Variant	nsv966767
Chromosome Location	chr7:27019816-27023367
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	POLR2A	chr7:27021736-27021875	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27023077..27025029-chr7:27026142..27029113,3	K562	blood:
2	7:27017279-27025474..7:27176959-27181770	Hela-S3	cervix:

Variant related genes	Relation type
HMGB3P20	TF binding region
ENSG00000105997	chromatin interactions
ENSG00000254369	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531807505	chr7:27019877-27019878	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs545104800	chr7:27019885-27019886	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138058860	chr7:27019951-27019952	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533159292	chr7:27019977-27019978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551334339	chr7:27020046-27020047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567478278	chr7:27020084-27020085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529887901	chr7:27020149-27020150	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549980233	chr7:27020164-27020165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184499283	chr7:27020227-27020228	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533990477	chr7:27020270-27020271	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs76985681	chr7:27020291-27020292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143970252	chr7:27020319-27020320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189638293	chr7:27020363-27020364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565626320	chr7:27020443-27020444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs117435545	chr7:27020453-27020454	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554012582	chr7:27020457-27020458	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573914939	chr7:27020474-27020475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542837981	chr7:27020489-27020490	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530573183	chr7:27020519-27020520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369592149	chr7:27020520-27020521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs539311621	chr7:27020693-27020694	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs140272865	chr7:27020694-27020695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144220450	chr7:27020720-27020721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs545479758	chr7:27020768-27020769	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192456513	chr7:27020841-27020842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183922549	chr7:27020878-27020879	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189256932	chr7:27020885-27020886	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201435630	chr7:27020949-27020950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35327216	chr7:27020965-27020966	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561195510	chr7:27020971-27020972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147526060	chr7:27020973-27020974	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550042779	chr7:27020978-27020979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs369301161	chr7:27021036-27021037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532112934	chr7:27021047-27021048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552211220	chr7:27021051-27021052	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs180676957	chr7:27021052-27021053	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs186381589	chr7:27021086-27021087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547758876	chr7:27021117-27021118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs189806178	chr7:27021126-27021127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181687758	chr7:27021141-27021142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556525043	chr7:27021146-27021147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185769515	chr7:27021210-27021211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs538765997	chr7:27021221-27021222	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373624894	chr7:27021276-27021277	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs572550226	chr7:27021309-27021310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191017829	chr7:27021318-27021319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561258717	chr7:27021327-27021328	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574834384	chr7:27021428-27021429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs56144845	chr7:27021456-27021457	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs566840065	chr7:27021458-27021459	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27005800-27029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:27022400-27024400	Enhancers	Ovary	ovary

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