Variant report

Variant	esv1849669
Chromosome Location	chr7:15556866-15573306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 600 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10267069	chr7:15556866-15556867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548796107	chr7:15556936-15556937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369815817	chr7:15556940-15556941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2389412	chr7:15556941-15556942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534736958	chr7:15556956-15556957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201646168	chr7:15556958-15556959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114660720	chr7:15556960-15556961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535341847	chr7:15556983-15556984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556880849	chr7:15557002-15557003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115501252	chr7:15557014-15557015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114128805	chr7:15557015-15557016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573244781	chr7:15557039-15557040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558133178	chr7:15557042-15557043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573231488	chr7:15557057-15557058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540739284	chr7:15557076-15557077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12699728	chr7:15557105-15557106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114665850	chr7:15557142-15557143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575537896	chr7:15557151-15557152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544588855	chr7:15557161-15557162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149368185	chr7:15557174-15557175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80303553	chr7:15557188-15557189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551840731	chr7:15557192-15557193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564124079	chr7:15557238-15557239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144798587	chr7:15557263-15557264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546702400	chr7:15557287-15557288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368100488	chr7:15557293-15557294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10255042	chr7:15557328-15557329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550368611	chr7:15557347-15557348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188422742	chr7:15557360-15557361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539368435	chr7:15557361-15557362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117326342	chr7:15557379-15557380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540398358	chr7:15557382-15557383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573226161	chr7:15557389-15557390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149037835	chr7:15557401-15557402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs118005617	chr7:15557448-15557449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10255153	chr7:15557451-15557452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181411269	chr7:15557463-15557464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544778346	chr7:15557506-15557507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148548160	chr7:15557508-15557509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578243156	chr7:15557559-15557560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375993452	chr7:15557597-15557598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376635116	chr7:15557604-15557605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545718321	chr7:15557631-15557632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116260862	chr7:15557638-15557639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10271080	chr7:15557645-15557646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546366737	chr7:15557664-15557665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561404343	chr7:15557685-15557686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145542751	chr7:15557700-15557701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550329769	chr7:15557746-15557747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117674463	chr7:15557803-15557804	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15554400-15557000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:15554800-15557600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:15555400-15557200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:15555800-15557600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:15556200-15557600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:15556400-15557600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:15557000-15557600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:15557000-15557800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:15557000-15558200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:15557200-15557400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:15557200-15558200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:15563600-15564800	Weak transcription	Liver	Liver
13	chr7:15564800-15565600	Strong transcription	Liver	Liver
14	chr7:15565200-15565800	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr7:15565600-15565800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:15565600-15565800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:15565600-15579000	Weak transcription	Liver	Liver
18	chr7:15565800-15567000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:15567000-15567200	Enhancers	Fetal Intestine Small	intestine
20	chr7:15571400-15571600	Enhancers	Left Ventricle	heart
21	chr7:15571800-15572400	Weak transcription	Left Ventricle	heart
22	chr7:15572400-15572600	Enhancers	Left Ventricle	heart
23	chr7:15572400-15573000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:15572400-15573000	Active TSS	Adipose Nuclei	Adipose
25	chr7:15573000-15573400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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