Variant report

Variant	rs1395330
Chromosome Location	chr4:125767985-125767986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125766671..125769138-chr4:125772617..125775217,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10031582	0.81[ASN][1000 genomes]
rs10518453	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112007	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156517	0.82[ASN][1000 genomes]
rs11943658	0.91[ASN][1000 genomes]
rs11944773	0.91[EUR][1000 genomes]
rs13101993	0.89[ASN][1000 genomes]
rs13108189	0.82[CHB][hapmap]
rs13108522	0.82[CHB][hapmap]
rs13109378	0.91[ASN][1000 genomes]
rs13111027	0.86[ASN][1000 genomes]
rs13113484	0.91[ASN][1000 genomes]
rs13119552	0.95[ASN][1000 genomes]
rs13124340	0.95[ASN][1000 genomes]
rs13124562	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133825	0.88[ASN][1000 genomes]
rs13137556	0.95[ASN][1000 genomes]
rs17008674	0.95[ASN][1000 genomes]
rs17008677	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055273	0.83[ASN][1000 genomes]
rs28427235	0.83[ASN][1000 genomes]
rs28855823	0.98[EUR][1000 genomes]
rs313997	0.83[ASN][1000 genomes]
rs34078885	0.91[ASN][1000 genomes]
rs34813358	0.95[ASN][1000 genomes]
rs35452496	0.95[ASN][1000 genomes]
rs35728397	0.95[ASN][1000 genomes]
rs36040717	0.95[ASN][1000 genomes]
rs4834006	0.98[ASN][1000 genomes]
rs55741225	0.95[ASN][1000 genomes]
rs56138521	0.95[ASN][1000 genomes]
rs57205016	0.95[ASN][1000 genomes]
rs58445385	0.91[ASN][1000 genomes]
rs58661679	0.91[ASN][1000 genomes]
rs61231754	0.86[ASN][1000 genomes]
rs66521462	0.91[ASN][1000 genomes]
rs6830179	0.83[ASN][1000 genomes]
rs6840646	0.91[ASN][1000 genomes]
rs6841569	0.91[CHD][hapmap];0.82[JPT][hapmap]
rs6852823	0.82[CHB][hapmap]
rs71610103	0.91[ASN][1000 genomes]
rs72916676	0.91[ASN][1000 genomes]
rs73848114	0.91[ASN][1000 genomes]
rs7672230	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv879883	chr4:125732734-125767985	Enhancers ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1395330	ISX	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125767200-125768200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:125767200-125768400	Enhancers	NHEK	skin
3	chr4:125767400-125768000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:125767400-125768000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:125767400-125768400	Enhancers	HMEC	breast
6	chr4:125767600-125768000	Enhancers	Esophagus	oesophagus
7	chr4:125767600-125768200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:125767600-125768200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:125767800-125768200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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