Variant report

Variant	nsv4037
Chromosome Location	chr3:140020508-140032666
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	chr3:140022731..140026345-chr3:140027266..140029721,3	MCF-7	breast:
2	chr3:140022731..140026345-chr3:140027266..140029721,3	MCF-7	breast:

Extended variants
information (count: 446 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570596809	chr3:140020521-140020522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77904405	chr3:140020544-140020545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144634685	chr3:140020550-140020551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187502471	chr3:140020561-140020562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529986227	chr3:140020593-140020594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111344586	chr3:140020614-140020615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6439916	chr3:140020694-140020695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533259201	chr3:140020701-140020702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533732437	chr3:140020729-140020730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542404542	chr3:140020734-140020735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11459920	chr3:140020745-140020746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182916406	chr3:140020762-140020763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563454542	chr3:140020781-140020782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147869565	chr3:140020792-140020793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187111800	chr3:140020876-140020877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs36004699	chr3:140020886-140020887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562534059	chr3:140020902-140020903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375547429	chr3:140020903-140020904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545466693	chr3:140020940-140020941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35603832	chr3:140020941-140020942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541645774	chr3:140020954-140020955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141441887	chr3:140020957-140020958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527614757	chr3:140021017-140021018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202079938	chr3:140021039-140021040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549409637	chr3:140021053-140021054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368881440	chr3:140021113-140021114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373395199	chr3:140021118-140021119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150365705	chr3:140021204-140021205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564554308	chr3:140021206-140021207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559312522	chr3:140021234-140021235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531706041	chr3:140021273-140021274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552245824	chr3:140021344-140021345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550209706	chr3:140021373-140021374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568467345	chr3:140021388-140021389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7636303	chr3:140021406-140021407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192080449	chr3:140021424-140021425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528198479	chr3:140021425-140021426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370756783	chr3:140021445-140021446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540162549	chr3:140021462-140021463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11927781	chr3:140021470-140021471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567741244	chr3:140021568-140021569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34648747	chr3:140021580-140021581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs16850127	chr3:140021594-140021595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs556175543	chr3:140021658-140021659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9855259	chr3:140021664-140021665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76217602	chr3:140021686-140021687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553579083	chr3:140021763-140021764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572008759	chr3:140021765-140021766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545735580	chr3:140021766-140021767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564234953	chr3:140021774-140021775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Ependymoma	20639864	CNVD
Dyslexia	22102821	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140015200-140020600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:140018600-140021600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:140018800-140034200	Weak transcription	Fetal Brain Male	brain
4	chr3:140020000-140020600	Weak transcription	Ovary	ovary
5	chr3:140020600-140020800	Enhancers	Ovary	ovary
6	chr3:140020800-140021600	Weak transcription	Ovary	ovary
7	chr3:140021600-140021800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:140021600-140022800	Enhancers	Ovary	ovary
9	chr3:140021800-140028800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:140022800-140026800	Weak transcription	Ovary	ovary
11	chr3:140024200-140024400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:140025000-140025400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:140025400-140025600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr3:140026400-140027400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:140026800-140027200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr3:140026800-140029400	Enhancers	Ovary	ovary
17	chr3:140027000-140027600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:140027400-140027800	Enhancers	K562	blood
19	chr3:140027600-140027800	Enhancers	Fetal Stomach	stomach
20	chr3:140028400-140028600	Enhancers	Fetal Stomach	stomach
21	chr3:140028800-140029400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:140029400-140047200	Weak transcription	Ovary	ovary
23	chr3:140032600-140032800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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