Variant report

Variant	rs1519194
Chromosome Location	chr3:140630934-140630935
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140629695..140632657-chr3:140659330..140662384,3	MCF-7	breast:
2	chr3:140630903..140633171-chr3:140636198..140638859,2	K562	blood:
3	chr3:140630710..140632280-chr3:140660621..140662488,2	MCF-7	breast:
4	chr3:140630037..140632900-chr3:140637525..140640287,2	K562	blood:

Variant related genes	Relation type
ENSG00000114120	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12486226	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12491336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1519191	0.90[EUR][1000 genomes]
rs1519192	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1568338	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56683057	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59222505	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60354869	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6769114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6793318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72989087	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72989089	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72989090	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72989093	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72989095	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72989097	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72989101	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72991013	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72991014	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72991016	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72991017	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72991019	0.85[AFR][1000 genomes]
rs7624649	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7625667	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7628638	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7628654	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7650615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591865	chr3:140396022-140728850	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1005522	chr3:140454632-140685915	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv536732	chr3:140454632-140685915	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140629800-140631000	Enhancers	Fetal Kidney	kidney
2	chr3:140629800-140631400	Enhancers	Pancreas	Pancrea
3	chr3:140629800-140631600	Enhancers	HepG2	liver
4	chr3:140630000-140631000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:140630000-140631600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:140630000-140635400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:140630200-140631000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:140630200-140631000	Enhancers	Fetal Intestine Small	intestine
9	chr3:140630200-140631000	Enhancers	Fetal Lung	lung
10	chr3:140630600-140636200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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