Variant report

Variant	nsv966768
Chromosome Location	chr7:27063598-27066773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27061277-27071265..7:27238414-27242313	Hela-S3	cervix:
2	7:27061277-27071265..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SKAP2-4	chr7:27065646-27065719	NONHSAT119659
2	lnc-SKAP2-4	chr7:27065758-27066113	NONHSAT119659

Variant related genes	Relation type
ENSG00000106031	chromatin interactions
ENSG00000078399	chromatin interactions
ENSG00000243766	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561714566	chr7:27063602-27063603	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs146496486	chr7:27063630-27063631	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs544555510	chr7:27063658-27063659	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs564487097	chr7:27063669-27063670	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577906357	chr7:27063698-27063699	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs17436827	chr7:27063705-27063706	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79301761	chr7:27063753-27063754	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs188508602	chr7:27063784-27063785	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs564276705	chr7:27063826-27063827	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs538115487	chr7:27063858-27063859	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs529435379	chr7:27063866-27063867	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs373262764	chr7:27063893-27063894	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs376412792	chr7:27063941-27063942	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs531787156	chr7:27063944-27063945	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs551792281	chr7:27063949-27063950	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs17464950	chr7:27063952-27063953	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs17500148	chr7:27063974-27063975	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs547346970	chr7:27063991-27063992	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs17500155	chr7:27064013-27064014	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs17500162	chr7:27064025-27064026	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs567470500	chr7:27064039-27064040	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs371206821	chr7:27064044-27064045	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs150403273	chr7:27064055-27064056	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs555842235	chr7:27064100-27064101	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs532973064	chr7:27064124-27064125	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs549996322	chr7:27064130-27064131	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs149719111	chr7:27064135-27064136	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs575728761	chr7:27064145-27064146	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538287709	chr7:27064172-27064173	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs192284820	chr7:27064183-27064184	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs578206191	chr7:27064199-27064200	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs540941274	chr7:27064205-27064206	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs72494339	chr7:27064249-27064250	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs574184252	chr7:27064268-27064269	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs138175191	chr7:27064285-27064286	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs563012808	chr7:27064334-27064335	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs185194121	chr7:27064378-27064379	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs377614063	chr7:27064420-27064421	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs559808442	chr7:27064445-27064446	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs551830826	chr7:27064447-27064448	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs563346732	chr7:27064467-27064468	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs565301881	chr7:27064470-27064471	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs527653233	chr7:27064524-27064525	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs149320175	chr7:27064527-27064528	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs2428430	chr7:27064596-27064597	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs13221187	chr7:27064633-27064634	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs58369245	chr7:27064652-27064653	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs190527638	chr7:27064653-27064654	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs569446471	chr7:27064666-27064667	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs538324668	chr7:27064695-27064696	Enhancers	Chromatin interactive region	3 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
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27048200-27064400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:27062800-27063600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr7:27063200-27063800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:27064400-27064600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr7:27064400-27064600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:27064600-27065200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:27065200-27070200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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