Variant report

Variant	nsv967114
Chromosome Location	chr3:75892016-75900941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557961290	chr3:75899232-75899233	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs186404917	chr3:75899244-75899245	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs146237163	chr3:75899245-75899246	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs548683700	chr3:75899253-75899254	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs558921252	chr3:75899280-75899281	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs191891924	chr3:75899329-75899330	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs575606485	chr3:75899350-75899351	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs11706177	chr3:75899366-75899367	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs528559237	chr3:75899371-75899372	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs188095474	chr3:75899386-75899387	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs183936653	chr3:75899388-75899389	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs187644706	chr3:75899394-75899395	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs192561827	chr3:75899422-75899423	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs574470715	chr3:75899423-75899424	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs375902467	chr3:75899502-75899503	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs557705513	chr3:75899508-75899509	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs572775856	chr3:75899520-75899521	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs540305999	chr3:75899534-75899535	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs370009634	chr3:75899551-75899552	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs555081898	chr3:75899554-75899555	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs575068439	chr3:75899557-75899558	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs372680038	chr3:75899563-75899564	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs200858103	chr3:75899564-75899565	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs541971696	chr3:75899574-75899575	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs540855237	chr3:75899591-75899592	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs6549815	chr3:75899593-75899594	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148238883	chr3:75899606-75899607	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181036420	chr3:75899612-75899613	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs531202433	chr3:75899643-75899644	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546201942	chr3:75899649-75899650	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201837630	chr3:75899660-75899661	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs144902875	chr3:75899703-75899704	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112456628	chr3:75899711-75899712	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113388234	chr3:75899734-75899735	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113285908	chr3:75899744-75899745	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs528513257	chr3:75899754-75899755	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs199499940	chr3:75899780-75899781	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182693540	chr3:75899781-75899782	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568620078	chr3:75899801-75899802	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200377578	chr3:75899813-75899814	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545439493	chr3:75899828-75899829	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529414233	chr3:75899851-75899852	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550758288	chr3:75899867-75899868	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568977164	chr3:75899868-75899869	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57405101	chr3:75899873-75899874	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113317271	chr3:75899874-75899875	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192318082	chr3:75899940-75899941	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533599000	chr3:75899952-75899953	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144932952	chr3:75899982-75899983	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373756339	chr3:75899995-75899996	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Melanoma	20877625	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75899200-75899600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr3:75899200-75899800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:75899400-75900000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:75899400-75900600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:75899600-75900000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:75899800-75900000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:75900000-75900200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr3:75900000-75900200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr3:75900000-75900400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:75900000-75900400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr3:75900000-75900400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr3:75900000-75900400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
13	chr3:75900000-75900400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:75900200-75900600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr3:75900400-75900600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:75900400-75900600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr3:75900400-75900600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr3:75900400-75900600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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