Variant report

Variant	nsv525236
Chromosome Location	chr7:38105033-38123667
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	chr7:38109776..38112089-chr7:38114785..38117105,2	K562	blood:
2	chr7:38109776..38112089-chr7:38114785..38117105,2	K562	blood:

Extended variants
information (count: 154 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528870682	chr7:38107410-38107411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6976431	chr7:38107414-38107415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557308386	chr7:38107415-38107416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573833149	chr7:38107442-38107443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192337838	chr7:38107500-38107501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559538842	chr7:38107502-38107503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs118158851	chr7:38107556-38107557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541541219	chr7:38107597-38107598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183243241	chr7:38107599-38107600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115700276	chr7:38107665-38107666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539544061	chr7:38107702-38107703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188619052	chr7:38107710-38107711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563644415	chr7:38107742-38107743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529591919	chr7:38107780-38107781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147589745	chr7:38107841-38107842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9648457	chr7:38107863-38107864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539207519	chr7:38107872-38107873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558324967	chr7:38107892-38107893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534399362	chr7:38107910-38107911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551476745	chr7:38107942-38107943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141934880	chr7:38108058-38108059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537053428	chr7:38108105-38108106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534458990	chr7:38108143-38108144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557042565	chr7:38108155-38108156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9648458	chr7:38108176-38108177	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs73691943	chr7:38108269-38108270	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9648459	chr7:38108279-38108280	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573013911	chr7:38108284-38108285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370595655	chr7:38108312-38108313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75840561	chr7:38108392-38108393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75809195	chr7:38108400-38108401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80236871	chr7:38108484-38108485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117898774	chr7:38108491-38108492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1464715	chr7:38108601-38108602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs79019381	chr7:38108608-38108609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79981549	chr7:38108609-38108610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145479577	chr7:38108644-38108645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1568758	chr7:38108665-38108666	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10253535	chr7:38108677-38108678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551151025	chr7:38108746-38108747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4364547	chr7:38108758-38108759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571361044	chr7:38108766-38108767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1464714	chr7:38108798-38108799	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550578468	chr7:38108812-38108813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191723092	chr7:38108813-38108814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148897833	chr7:38108816-38108817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368575035	chr7:38108870-38108871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371845998	chr7:38108882-38108883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566505607	chr7:38108899-38108900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538827147	chr7:38108924-38108925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	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
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38107400-38107600	Enhancers	HSMMtube	muscle
2	chr7:38107600-38107800	Enhancers	K562	blood
3	chr7:38107800-38108400	Weak transcription	HSMMtube	muscle
4	chr7:38107800-38108400	Weak transcription	K562	blood
5	chr7:38108000-38108800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:38108400-38108600	Enhancers	HSMMtube	muscle
7	chr7:38108400-38108600	Enhancers	K562	blood
8	chr7:38108400-38109000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:38108600-38108800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:38108600-38109800	Weak transcription	K562	blood
11	chr7:38108600-38110600	Weak transcription	HSMMtube	muscle
12	chr7:38108800-38110000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:38109000-38110200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:38109800-38110800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:38110000-38110800	Enhancers	Brain Germinal Matrix	brain
16	chr7:38110000-38111000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:38110000-38111200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:38110200-38110400	Enhancers	K562	blood
19	chr7:38110200-38111000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:38110200-38111000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:38110200-38111000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:38110200-38111000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:38110200-38111200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:38110400-38110800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:38110400-38110800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr7:38110400-38110800	Enhancers	HSMM	muscle
27	chr7:38110400-38111000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:38110600-38110800	Enhancers	HSMMtube	muscle
29	chr7:38110600-38111000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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