Variant report

Variant	rs17628225
Chromosome Location	chr12:59482559-59482560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10506353	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10735877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs12423606	0.95[EUR][1000 genomes]
rs12424452	1.00[AFR][1000 genomes]
rs12426927	1.00[AFR][1000 genomes]
rs1444090	0.82[EUR][1000 genomes]
rs17122093	0.95[EUR][1000 genomes]
rs17537478	0.83[ASN][1000 genomes]
rs17618789	1.00[ASW][hapmap];1.00[CHB][hapmap]
rs17625922	0.83[ASN][1000 genomes]
rs17626131	0.83[ASN][1000 genomes]
rs4760261	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4760262	1.00[AFR][1000 genomes]
rs4760263	1.00[AFR][1000 genomes]
rs55670466	0.83[ASN][1000 genomes]
rs58788934	1.00[AFR][1000 genomes]
rs61934327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61934328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61934330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61934332	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61934333	0.95[EUR][1000 genomes]
rs7134004	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485424	1.00[AFR][1000 genomes]
rs907344	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs908393	1.00[AFR][1000 genomes]
rs978615	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS 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	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59468400-59489000	Weak transcription	Esophagus	oesophagus
2	chr12:59479000-59494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:59479200-59489600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:59479600-59482600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:59480400-59483200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:59480600-59486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:59480600-59494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:59480800-59482600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:59480800-59487200	Weak transcription	HMEC	breast
10	chr12:59480800-59490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:59481000-59486400	Weak transcription	NHEK	skin
12	chr12:59481400-59486000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:59482200-59483000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:59482200-59483200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:59482400-59482600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:59482400-59482800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:59482400-59482800	Enhancers	NHDF-Ad	bronchial
18	chr12:59482400-59482800	Enhancers	NHLF	lung
19	chr12:59482400-59483000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:59482400-59483000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:59482400-59483200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:59482400-59483200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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