Variant report

Variant	rs2796188
Chromosome Location	chr1:71694861-71694862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1009311	0.98[ASN][1000 genomes]
rs10493481	1.00[JPT][hapmap]
rs11209743	0.82[ASN][1000 genomes]
rs11209745	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs11209747	0.83[ASN][1000 genomes]
rs11209756	0.98[ASN][1000 genomes]
rs11209757	0.91[ASN][1000 genomes]
rs11209761	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11209762	0.86[ASN][1000 genomes]
rs11811835	0.86[ASN][1000 genomes]
rs12084460	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs12118599	0.98[ASN][1000 genomes]
rs12119958	0.98[ASN][1000 genomes]
rs12131265	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs12139565	0.94[ASN][1000 genomes]
rs12140289	0.81[ASN][1000 genomes]
rs12729268	0.98[ASN][1000 genomes]
rs12737582	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12744775	0.86[ASN][1000 genomes]
rs12748649	0.83[ASN][1000 genomes]
rs1367767	0.86[ASN][1000 genomes]
rs1395289	0.86[ASN][1000 genomes]
rs1418449	0.94[ASN][1000 genomes]
rs1546809	0.98[ASN][1000 genomes]
rs1573061	0.98[ASN][1000 genomes]
rs1832900	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1954285	0.98[ASN][1000 genomes]
rs2066371	0.98[ASN][1000 genomes]
rs2066373	0.98[ASN][1000 genomes]
rs2639329	0.98[ASN][1000 genomes]
rs2639330	0.98[ASN][1000 genomes]
rs2639331	0.93[ASN][1000 genomes]
rs2639335	0.98[ASN][1000 genomes]
rs2639338	0.98[ASN][1000 genomes]
rs2694954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2790675	0.98[ASN][1000 genomes]
rs2796187	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796190	1.00[ASN][1000 genomes]
rs2796192	0.98[ASN][1000 genomes]
rs2796196	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2796199	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs2796201	0.98[ASN][1000 genomes]
rs2796202	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2796203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2817869	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs4272572	1.00[ASW][hapmap];0.89[CEU][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4367753	0.90[ASN][1000 genomes]
rs4397614	0.98[ASN][1000 genomes]
rs4425938	0.98[ASN][1000 genomes]
rs6680193	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7411	1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs7516464	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs7519104	0.94[JPT][hapmap]
rs7525499	0.86[ASN][1000 genomes]
rs7556111	0.90[ASN][1000 genomes]
rs880098	0.81[ASN][1000 genomes]
rs952337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2796188	PTGER3	cis	uninvolved skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71693600-71695400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:71693600-71695400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:71693800-71695000	Enhancers	Fetal Brain Female	brain
4	chr1:71693800-71695400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:71694000-71695000	Bivalent Enhancer	Fetal Heart	heart
6	chr1:71694000-71697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:71694200-71695000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:71694200-71695200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:71694400-71695000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:71694600-71695000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:71694600-71695000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:71694600-71695000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:71694600-71695000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:71694600-71695000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:71694600-71695000	Enhancers	Left Ventricle	heart
16	chr1:71694800-71695000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:71694800-71695000	Flanking Active TSS	Right Ventricle	heart

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