Variant report

Variant	rs17188128
Chromosome Location	chr1:209514563-209514564
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12144563	0.83[AFR][1000 genomes]
rs1395749	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1395750	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1542981	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17188142	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2245283	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2245287	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2489649	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489650	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2660637	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2843169	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56375933	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6700119	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72756439	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72756445	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209506200-209515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:209506200-209524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:209513000-209516800	Enhancers	Fetal Lung	lung
4	chr1:209513000-209517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:209513000-209518600	Enhancers	Fetal Brain Male	brain
6	chr1:209513600-209516000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:209513600-209517600	Enhancers	Fetal Brain Female	brain
8	chr1:209513800-209516200	Enhancers	Fetal Stomach	stomach
9	chr1:209514200-209514600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr1:209514200-209516400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:209514400-209514600	Enhancers	Adipose Nuclei	Adipose
12	chr1:209514400-209514600	Enhancers	Small Intestine	intestine
13	chr1:209514400-209515600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:209514400-209515600	Enhancers	Brain Germinal Matrix	brain
15	chr1:209514400-209516000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:209514400-209517200	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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