Variant report

Variant	rs11739444
Chromosome Location	chr5:42581444-42581445
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	chr5:42554149..42555763-chr5:42579785..42581551,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10941578	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs10941579	0.85[EUR][1000 genomes]
rs11740415	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949751	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11955075	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516901	0.81[EUR][1000 genomes]
rs12521020	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13160458	0.96[CEU][hapmap]
rs13176410	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184352	0.84[CEU][hapmap]
rs28943881	0.83[EUR][1000 genomes]
rs34374598	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34466913	0.82[EUR][1000 genomes]
rs34535288	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34895721	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090794	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365846	0.96[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4368736	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4395642	0.96[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493680	0.95[CEU][hapmap]
rs4496716	0.87[CEU][hapmap];0.95[EUR][1000 genomes]
rs4504390	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs55696942	0.86[EUR][1000 genomes]
rs61197005	0.88[EUR][1000 genomes]
rs6859653	0.92[CEU][hapmap]
rs6863381	0.86[CEU][hapmap]
rs6865492	0.90[EUR][1000 genomes]
rs6881929	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs6896667	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7703713	0.96[CEU][hapmap]
rs7707913	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712701	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714392	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735889	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7736209	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42568000-42582200	Weak transcription	Fetal Intestine Small	intestine
2	chr5:42568400-42581800	Weak transcription	Fetal Stomach	stomach
3	chr5:42568400-42582800	Weak transcription	Ovary	ovary
4	chr5:42571800-42583400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:42572200-42587800	Weak transcription	Left Ventricle	heart
6	chr5:42572400-42582800	Weak transcription	Right Ventricle	heart
7	chr5:42572800-42583000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:42573000-42581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:42573000-42582000	Weak transcription	Fetal Lung	lung
10	chr5:42573600-42586600	Weak transcription	Psoas Muscle	Psoas
11	chr5:42579800-42583000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:42580000-42581600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:42580000-42582000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:42580000-42583000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:42580000-42586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:42580600-42581800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:42581200-42583000	Strong transcription	Adipose Nuclei	Adipose
18	chr5:42581200-42583000	Genic enhancers	Liver	Liver
19	chr5:42581400-42581800	Strong transcription	Fetal Muscle Trunk	muscle

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