Variant report

Variant	rs17056268
Chromosome Location	chr13:38196247-38196248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1358995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056136	1.00[EUR][1000 genomes]
rs17056144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056209	1.00[EUR][1000 genomes]
rs17056217	1.00[EUR][1000 genomes]
rs17056272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056282	1.00[EUR][1000 genomes]
rs17056326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957211	1.00[EUR][1000 genomes]
rs3887894	1.00[EUR][1000 genomes]
rs4387481	1.00[EUR][1000 genomes]
rs4391926	1.00[EUR][1000 genomes]
rs57148437	1.00[AMR][1000 genomes]
rs57947059	1.00[EUR][1000 genomes]
rs59153705	1.00[AMR][1000 genomes]
rs604068	1.00[EUR][1000 genomes]
rs60859717	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61090146	1.00[AMR][1000 genomes]
rs61547984	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563552	1.00[AMR][1000 genomes]
rs6563554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7332439	1.00[AMR][1000 genomes]
rs7992050	1.00[AMR][1000 genomes]
rs7996522	1.00[EUR][1000 genomes]
rs7997279	1.00[AMR][1000 genomes]
rs7998063	1.00[AMR][1000 genomes]
rs7999407	1.00[AMR][1000 genomes]
rs7999594	1.00[AMR][1000 genomes]
rs7999882	1.00[AMR][1000 genomes]
rs9532068	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv430553	chr13:38184100-38203200	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38193400-38209400	Weak transcription	Osteobl	bone
2	chr13:38195400-38196600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:38195400-38196600	Enhancers	NHDF-Ad	bronchial
4	chr13:38195600-38196400	Enhancers	Fetal Stomach	stomach
5	chr13:38195600-38196400	Enhancers	Ovary	ovary
6	chr13:38195600-38196600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:38195600-38196600	Enhancers	NHLF	lung
8	chr13:38195800-38196400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:38196000-38196400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:38196000-38196400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:38196000-38196400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:38196000-38196400	Enhancers	Fetal Lung	lung
13	chr13:38196000-38196400	Enhancers	Stomach Smooth Muscle	stomach
14	chr13:38196000-38196600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:38196000-38196600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:38196200-38196400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:38196200-38196600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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