Variant report

Variant	rs12639747
Chromosome Location	chr4:100493242-100493243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100491991..100494420-chr4:100498993..100500617,2	MCF-7	breast:
2	chr4:100483825..100487294-chr4:100492777..100496037,4	K562	blood:

Variant related genes	Relation type
ENSG00000145331	Chromatin interaction
ENSG00000138823	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1032355	1.00[ASN][1000 genomes]
rs10516442	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12152646	1.00[ASN][1000 genomes]
rs12498565	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12507390	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12509976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510369	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12648614	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13103880	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13110062	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13114983	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13118288	1.00[CEU][hapmap]
rs13124255	1.00[CEU][hapmap]
rs13131135	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13131565	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13131644	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13139650	0.97[ASN][1000 genomes]
rs13152833	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1491234	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1491240	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1491247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16996623	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17029112	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17029137	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17029269	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1873518	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1979659	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2220636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306986	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34398286	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34446513	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34500159	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35043772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35107102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35112301	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35502934	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35779395	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36044991	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792683	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805336	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699758	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5011596	0.82[ASN][1000 genomes]
rs58844793	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60791848	0.89[AFR][1000 genomes]
rs6532822	0.97[ASN][1000 genomes]
rs66931934	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs70958317	0.88[ASN][1000 genomes]
rs73832826	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73832830	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7675468	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7678142	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7688705	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs884276	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs951941	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958868	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs982424	0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:100485200-100493800	Weak transcription	Aorta	Aorta
2	chr4:100485400-100493800	Weak transcription	Ovary	ovary
3	chr4:100485600-100494200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:100487000-100493800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:100492000-100494200	Enhancers	Fetal Intestine Small	intestine
6	chr4:100492400-100494200	Enhancers	Fetal Intestine Large	intestine
7	chr4:100493000-100493600	Enhancers	Liver	Liver
8	chr4:100493000-100493800	Enhancers	HepG2	liver
9	chr4:100493200-100493600	Enhancers	Colon Smooth Muscle	Colon
10	chr4:100493200-100494000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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