Variant report

Variant	esv3335405
Chromosome Location	chr7:25952027-25957925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:25953417..25956574-chr7:25956816..25958986,3	K562	blood:
2	chr7:25952760..25954350-chr7:25989892..25992459,2	K562	blood:
3	chr7:25957300..25959030-chr7:25962063..25963663,2	K562	blood:
4	chr7:25953417..25956574-chr7:25956816..25958986,3	K562	blood:
5	chr7:25945944..25949352-chr7:25952890..25956249,3	K562	blood:
6	chr7:25951761..25954301-chr7:25955660..25959203,4	K562	blood:
7	chr7:25953157..25955239-chr7:25965807..25967682,2	K562	blood:
8	chr7:25939345..25941497-chr7:25950960..25952710,2	K562	blood:
9	chr7:25956397..25958316-chr7:25961435..25964267,2	K562	blood:
10	chr7:25951761..25954301-chr7:25955660..25959203,4	K562	blood:
11	chr7:25951352..25952965-chr7:25956982..25959003,2	K562	blood:
12	chr7:25951352..25952965-chr7:25956982..25959003,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPA2B1-11	chr7:25955640-25955975	expReg_chr7_2066_-

No data

Extended variants
information (count: 72 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556906610	chr7:25953210-25953211	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80272835	chr7:25953254-25953255	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566641907	chr7:25953259-25953260	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146674685	chr7:25953326-25953327	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568764087	chr7:25953377-25953378	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567209824	chr7:25953398-25953399	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575231809	chr7:25953415-25953416	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536158641	chr7:25953449-25953450	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557297536	chr7:25953484-25953485	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577589785	chr7:25953490-25953491	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182271322	chr7:25953499-25953500	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140241634	chr7:25953507-25953508	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143974252	chr7:25953524-25953525	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35930157	chr7:25953532-25953533	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542491287	chr7:25953563-25953564	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562272754	chr7:25953585-25953586	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146454630	chr7:25953594-25953595	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187221652	chr7:25953678-25953679	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4722543	chr7:25953720-25953721	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533204768	chr7:25953743-25953744	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572511098	chr7:25953756-25953757	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547060316	chr7:25953806-25953807	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566897467	chr7:25953807-25953808	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529391012	chr7:25953809-25953810	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544642959	chr7:25953825-25953826	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191633774	chr7:25953835-25953836	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185384108	chr7:25953985-25953986	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557659427	chr7:25954000-25954001	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557617444	chr7:25954009-25954010	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571207664	chr7:25954018-25954019	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533594734	chr7:25954042-25954043	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140755180	chr7:25954045-25954046	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573610399	chr7:25954067-25954068	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373332764	chr7:25954086-25954087	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558614826	chr7:25954099-25954100	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188249070	chr7:25954139-25954140	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575269958	chr7:25954140-25954141	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs36118653	chr7:25954144-25954145	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576168045	chr7:25955642-25955643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs564405909	chr7:25955665-25955666	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs139560080	chr7:25955671-25955672	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs374666691	chr7:25955720-25955721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs188559037	chr7:25955727-25955728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs12154905	chr7:25955754-25955755	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141705591	chr7:25955863-25955864	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs530014674	chr7:25955888-25955889	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs58300964	chr7:25955932-25955933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs62446262	chr7:25955946-25955947	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569654047	chr7:25955949-25955950	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs368004984	chr7:25955958-25955959	Inactive region	lncRNA	n/a	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
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Acute myeloid leukemia	20962326	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25953200-25954200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:25953200-25954200	Enhancers	Fetal Lung	lung
3	chr7:25953600-25953800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:25957200-25957800	Active TSS	Aorta	Aorta

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