Variant report

Variant	nsv516499
Chromosome Location	chr7:21427618-21431809
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	chr7:21426939..21429254-chr7:21431394..21433331,2	K562	blood:
2	chr7:21426939..21429254-chr7:21431394..21433331,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566928110	chr7:21427808-21427809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529399310	chr7:21427841-21427842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550742110	chr7:21427843-21427844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140411592	chr7:21427844-21427845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567373419	chr7:21427869-21427870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569332709	chr7:21427874-21427875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200451293	chr7:21427958-21427959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538566587	chr7:21427966-21427967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558132773	chr7:21427973-21427974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11367412	chr7:21427983-21427984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150371270	chr7:21428052-21428053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138159522	chr7:21428094-21428095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181443369	chr7:21428100-21428101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35373758	chr7:21428106-21428107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185780163	chr7:21428108-21428109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143620476	chr7:21428135-21428136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555568838	chr7:21428160-21428161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190241657	chr7:21428163-21428164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375319929	chr7:21428169-21428170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564325440	chr7:21428180-21428181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181159394	chr7:21428187-21428188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112309281	chr7:21428191-21428192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560489938	chr7:21428291-21428292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4719664	chr7:21428369-21428370	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368928514	chr7:21428381-21428382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145913972	chr7:21428408-21428409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538956993	chr7:21428410-21428411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531787368	chr7:21428416-21428417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551663284	chr7:21428417-21428418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372218892	chr7:21428428-21428429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571570285	chr7:21428482-21428483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534214472	chr7:21428490-21428491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546216322	chr7:21428495-21428496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566113030	chr7:21428513-21428514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139142046	chr7:21428565-21428566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555137810	chr7:21428583-21428584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185253194	chr7:21428629-21428630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1080477	chr7:21428633-21428634	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190589954	chr7:21428641-21428642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578033292	chr7:21428648-21428649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535349778	chr7:21428680-21428681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184077931	chr7:21428691-21428692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568675805	chr7:21428756-21428757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573918176	chr7:21428799-21428800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543132568	chr7:21428846-21428847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562797856	chr7:21428867-21428868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531944032	chr7:21428879-21428880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543413886	chr7:21428917-21428918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565113798	chr7:21428954-21428955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112823516	chr7:21428988-21428989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21427800-21428400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:21427800-21429400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:21427800-21429400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:21427800-21429600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:21428000-21428200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr7:21428000-21428800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:21428000-21429400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:21428000-21429600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:21428000-21429600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:21428200-21429200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:21429200-21429600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:21429200-21429600	Enhancers	Pancreas	Pancrea

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