Variant report

Variant	rs17012114
Chromosome Location	chr4:87772611-87772612
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10015508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020861	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10516787	0.88[CEU][hapmap]
rs13106349	1.00[ASN][1000 genomes]
rs13106574	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13117771	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118214	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118640	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13126378	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136338	0.87[CEU][hapmap]
rs13136465	0.88[CEU][hapmap]
rs13138790	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138951	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13149938	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16996065	1.00[CHB][hapmap]
rs17012130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17702203	0.84[CEU][hapmap]
rs28378886	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28401697	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450181	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28495376	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533631	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28574613	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633398	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28682481	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392566	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35606887	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35635961	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41525049	0.94[CEU][hapmap]
rs4639036	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58866123	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305617	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305637	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305638	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305641	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305644	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6811350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826767	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72874293	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7690165	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9654158	1.00[CHB][hapmap];1.00[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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87769600-87776800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:87769800-87778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:87770200-87776800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:87770400-87778600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:87771200-87776200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:87771600-87776200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:87771600-87776200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:87771600-87776800	Weak transcription	Right Atrium	heart
9	chr4:87771600-87785600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:87771800-87775800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:87771800-87776200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:87771800-87776400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:87771800-87776400	Weak transcription	NHEK	skin
14	chr4:87771800-87776800	Weak transcription	Left Ventricle	heart
15	chr4:87771800-87776800	Weak transcription	Hela-S3	cervix

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