Variant report

Variant	esv2759513
Chromosome Location	chr7:16015863-16027889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 474 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2052028	chr7:16015863-16015864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs118118289	chr7:16015867-16015868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548337852	chr7:16015896-16015897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117924007	chr7:16015970-16015971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181255984	chr7:16015988-16015989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549458816	chr7:16016008-16016009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571304036	chr7:16016009-16016010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552348608	chr7:16016033-16016034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553522970	chr7:16016058-16016059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565932069	chr7:16016062-16016063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551368431	chr7:16016123-16016124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185114085	chr7:16016145-16016146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144238948	chr7:16016159-16016160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576313406	chr7:16016180-16016181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543682387	chr7:16016182-16016183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190356358	chr7:16016256-16016257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148707401	chr7:16016260-16016261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377667205	chr7:16016306-16016307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10268779	chr7:16016336-16016337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528572234	chr7:16016348-16016349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375198181	chr7:16016367-16016368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142360874	chr7:16016397-16016398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530298081	chr7:16016411-16016412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542129212	chr7:16016426-16016427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563681196	chr7:16016428-16016429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531008561	chr7:16016433-16016434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552527142	chr7:16016436-16016437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571305352	chr7:16016438-16016439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146340502	chr7:16016467-16016468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34706043	chr7:16016479-16016480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547341476	chr7:16016482-16016483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1918857	chr7:16016504-16016505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs536773558	chr7:16016515-16016516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139603289	chr7:16016552-16016553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548493880	chr7:16016571-16016572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182096977	chr7:16016615-16016616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537219840	chr7:16016633-16016634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558503975	chr7:16016635-16016636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557111537	chr7:16016716-16016717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577231084	chr7:16016751-16016752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118162547	chr7:16016766-16016767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553282255	chr7:16016810-16016811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574486473	chr7:16016820-16016821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541871279	chr7:16016838-16016839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563620194	chr7:16016843-16016844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370500444	chr7:16016869-16016870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550232704	chr7:16016899-16016900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576377938	chr7:16016929-16016930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546344956	chr7:16016974-16016975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112792660	chr7:16016985-16016986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16013200-16017000	Weak transcription	Osteobl	bone
2	chr7:16013200-16017400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:16013200-16017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:16013200-16017400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:16013200-16017400	Weak transcription	NHDF-Ad	bronchial
6	chr7:16013400-16016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:16013400-16017200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:16013800-16017000	Weak transcription	HUVEC	blood vessel
9	chr7:16016800-16018000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:16017000-16017800	Enhancers	Osteobl	bone
11	chr7:16017000-16018200	Enhancers	HUVEC	blood vessel
12	chr7:16017200-16017800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:16017200-16018000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:16017400-16017800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:16017400-16017800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:16017400-16017800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:16017400-16017800	Enhancers	NHDF-Ad	bronchial
18	chr7:16020200-16024200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:16020400-16023800	Weak transcription	Left Ventricle	heart
20	chr7:16024200-16024400	Enhancers	Left Ventricle	heart
21	chr7:16024200-16024800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:16024400-16026600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:16024400-16027000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:16024600-16025800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:16024600-16026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:16024600-16027000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:16024800-16025600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:16024800-16027000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:16024800-16027200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:16025400-16025600	Enhancers	NHDF-Ad	bronchial
31	chr7:16025600-16026000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:16025600-16026000	Enhancers	Fetal Brain Male	brain
33	chr7:16025600-16026000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr7:16026000-16026200	Enhancers	NHDF-Ad	bronchial
35	chr7:16026200-16026400	Flanking Active TSS	NHDF-Ad	bronchial
36	chr7:16027000-16027400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:16027400-16027800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:16027400-16029200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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