Variant report

Variant	nsv963577
Chromosome Location	chr3:98736986-98766962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:98742090..98742958-chr3:98891307..98892432,5	MCF-7	breast:
2	chr3:98612664..98615119-chr3:98737659..98739776,2	K562	blood:
3	chr3:98742225..98743062-chr3:98891577..98892142,2	MCF-7	breast:
4	chr2:75887719..75888507-chr3:98736202..98737122,2	MCF-7	breast:
5	chr3:98742176..98742700-chr3:99472216..99472863,2	K562	blood:
6	chr3:98742229..98743324-chr3:98833134..98833747,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST3GAL6-1	chr3:98737275-98737406	ENSG00000239462.1

No data

Variant related genes	Relation type
ENSG00000057019	chromatin interactions

Extended variants
information (count: 603 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:603 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532321510	chr3:98737034-98737035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138218224	chr3:98737042-98737043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201820759	chr3:98737045-98737046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60425501	chr3:98737048-98737049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398062612	chr3:98737049-98737050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565398150	chr3:98737058-98737059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1524229	chr3:98737073-98737074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs151215092	chr3:98737094-98737095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114667351	chr3:98737132-98737133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548269246	chr3:98737168-98737169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184353061	chr3:98737179-98737180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567937071	chr3:98737180-98737181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200529456	chr3:98737183-98737184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373468904	chr3:98737188-98737189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546963509	chr3:98737203-98737204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566852274	chr3:98737212-98737213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140315362	chr3:98737252-98737253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115795486	chr3:98737269-98737270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2449066	chr3:98737270-98737271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs115433138	chr3:98737305-98737306	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs555060268	chr3:98737318-98737319	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs567518151	chr3:98737341-98737342	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs189654817	chr3:98737378-98737379	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs540648165	chr3:98737420-98737421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77389941	chr3:98737430-98737431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541644933	chr3:98737432-98737433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577250967	chr3:98737447-98737448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113062724	chr3:98737463-98737464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546127779	chr3:98737497-98737498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562624430	chr3:98737569-98737570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376880692	chr3:98737597-98737598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149940487	chr3:98737617-98737618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11919265	chr3:98737659-98737660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142114840	chr3:98737701-98737702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527270877	chr3:98737703-98737704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145861993	chr3:98737735-98737736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73857815	chr3:98737776-98737777	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566817460	chr3:98737784-98737785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556079371	chr3:98737869-98737870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538908620	chr3:98737960-98737961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552456546	chr3:98737977-98737978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141073986	chr3:98737989-98737990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538464399	chr3:98738002-98738003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2462234	chr3:98738006-98738007	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs2449065	chr3:98738084-98738085	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs2462235	chr3:98738091-98738092	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs181258829	chr3:98738094-98738095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370912872	chr3:98738104-98738105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577312448	chr3:98738124-98738125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185962930	chr3:98738136-98738137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98726600-98740400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:98736000-98737200	Weak transcription	Aorta	Aorta
3	chr3:98737200-98737400	Enhancers	Aorta	Aorta
4	chr3:98740400-98741200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:98740400-98741200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:98742600-98743200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:98747000-98753600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:98753600-98754000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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