Variant report

Variant	nsv517723
Chromosome Location	chr7:15397643-15402966
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	chr7:15392439..15394759-chr7:15395448..15398263,2	K562	blood:

Extended variants
information (count: 342 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6461170	chr7:15397643-15397644	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10277659	chr7:15397663-15397664	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544837003	chr7:15397738-15397739	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74984590	chr7:15397747-15397748	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527565653	chr7:15397752-15397753	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114814337	chr7:15397765-15397766	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561197742	chr7:15397785-15397786	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138032422	chr7:15397796-15397797	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550242915	chr7:15397824-15397825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571639869	chr7:15397839-15397840	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532646565	chr7:15397879-15397880	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547627661	chr7:15397889-15397890	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566283645	chr7:15397898-15397899	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536483866	chr7:15397908-15397909	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554821566	chr7:15397942-15397943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570063125	chr7:15397951-15397952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537440047	chr7:15397958-15397959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576338260	chr7:15397965-15397966	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556136439	chr7:15397978-15397979	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541746328	chr7:15397979-15397980	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149543333	chr7:15397989-15397990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545113321	chr7:15398018-15398019	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116590855	chr7:15398040-15398041	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572251875	chr7:15398077-15398078	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542868147	chr7:15398078-15398079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561162597	chr7:15398082-15398083	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531675503	chr7:15398086-15398087	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144108723	chr7:15398087-15398088	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148305177	chr7:15398098-15398099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532472562	chr7:15398139-15398140	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529006143	chr7:15398141-15398142	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558541659	chr7:15398156-15398157	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373817795	chr7:15398161-15398162	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547884597	chr7:15398177-15398178	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566069592	chr7:15398193-15398194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146391994	chr7:15398205-15398206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530229539	chr7:15398206-15398207	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201106986	chr7:15398210-15398211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527239480	chr7:15398245-15398246	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114359478	chr7:15398246-15398247	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370642113	chr7:15398268-15398269	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115076966	chr7:15398271-15398272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538286553	chr7:15398302-15398303	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553806836	chr7:15398303-15398304	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182472820	chr7:15398309-15398310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573339955	chr7:15398367-15398368	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73064571	chr7:15398368-15398369	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554812850	chr7:15398389-15398390	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576356929	chr7:15398406-15398407	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543721852	chr7:15398407-15398408	Strong transcription Weak transcription	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
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15396800-15397800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:15397000-15397800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:15397000-15401000	Strong transcription	Liver	Liver
4	chr7:15397600-15399200	Weak transcription	Fetal Heart	heart
5	chr7:15399200-15400800	Enhancers	Fetal Heart	heart
6	chr7:15401000-15402000	Weak transcription	Liver	Liver
7	chr7:15402000-15402400	Enhancers	Liver	Liver
8	chr7:15402400-15404000	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links