Variant report

Variant	esv12413
Chromosome Location	chr7:26305273-26308249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26301633..26304358-chr7:26306082..26308143,2	K562	blood:
2	chr7:26237378..26238939-chr7:26305389..26307516,2	K562	blood:
3	chr7:26239171..26243202-chr7:26305384..26313158,8	K562	blood:
4	chr7:26302115..26304358-chr7:26305370..26308794,3	K562	blood:

Variant related genes	Relation type
ENSG00000122565	chromatin interactions
ENSG00000122566	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150686643	chr7:26305275-26305276	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529987422	chr7:26305295-26305296	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536797143	chr7:26305356-26305357	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7800581	chr7:26305384-26305385	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116654895	chr7:26305388-26305389	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538848263	chr7:26305430-26305431	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558853314	chr7:26305447-26305448	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566381515	chr7:26305455-26305456	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199636942	chr7:26305469-26305470	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35155959	chr7:26305470-26305471	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373831799	chr7:26305472-26305473	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558333332	chr7:26305477-26305478	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186786237	chr7:26305503-26305504	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28439163	chr7:26305529-26305530	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543975407	chr7:26305591-26305592	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192930414	chr7:26305630-26305631	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571804427	chr7:26305742-26305743	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182825140	chr7:26305754-26305755	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546001874	chr7:26305845-26305846	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559266915	chr7:26305897-26305898	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75222884	chr7:26305920-26305921	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200606607	chr7:26305932-26305933	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs148331253	chr7:26305933-26305934	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188742159	chr7:26305934-26305935	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561386038	chr7:26305940-26305941	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs530431780	chr7:26305978-26305979	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs144605719	chr7:26306043-26306044	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35381603	chr7:26306051-26306052	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs373640696	chr7:26306052-26306053	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs550802544	chr7:26306089-26306090	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573281059	chr7:26306117-26306118	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs192954442	chr7:26306121-26306122	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532850556	chr7:26306136-26306137	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs114509545	chr7:26306143-26306144	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7805221	chr7:26306168-26306169	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535378606	chr7:26306215-26306216	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555294113	chr7:26306246-26306247	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs34411031	chr7:26306254-26306255	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568730397	chr7:26306264-26306265	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10230833	chr7:26306310-26306311	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537447601	chr7:26306355-26306356	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557365314	chr7:26306359-26306360	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs139981414	chr7:26306362-26306363	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545958225	chr7:26306370-26306371	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs13245047	chr7:26306402-26306403	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189471667	chr7:26306473-26306474	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115056844	chr7:26306484-26306485	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561650152	chr7:26306491-26306492	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs566108577	chr7:26306492-26306493	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs114033905	chr7:26306493-26306494	Enhancers	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
Breast cancer	18852474	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26305200-26305400	Flanking Active TSS	Hela-S3	cervix
2	chr7:26305200-26306000	Enhancers	HSMMtube	muscle
3	chr7:26305400-26305600	Enhancers	Hela-S3	cervix
4	chr7:26305600-26305800	Enhancers	Osteobl	bone
5	chr7:26306200-26306800	Enhancers	Duodenum Mucosa	Duodenum
6	chr7:26306800-26307200	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr7:26306800-26307800	Enhancers	Fetal Intestine Small	intestine
8	chr7:26306800-26308200	Enhancers	Fetal Intestine Large	intestine
9	chr7:26307200-26308400	Enhancers	Duodenum Mucosa	Duodenum

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