Variant report

Variant	rs7603608
Chromosome Location	chr2:151365131-151365132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169336	0.88[ASN][1000 genomes]
rs10177711	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10497060	0.89[ASN][1000 genomes]
rs1108155	0.88[ASN][1000 genomes]
rs11686078	0.90[ASN][1000 genomes]
rs12692722	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs12692729	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12692739	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12692740	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12692748	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs13011082	0.90[ASN][1000 genomes]
rs13031372	0.89[ASN][1000 genomes]
rs1609302	0.96[CEU][hapmap]
rs1852690	0.90[ASN][1000 genomes]
rs2222760	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2340852	0.85[ASN][1000 genomes]
rs6432778	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs6432779	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs6721757	1.00[CEU][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6757626	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72865991	0.82[ASN][1000 genomes]
rs7603369	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][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	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834414	chr2:151209374-151413309	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1001777	chr2:151351927-151395620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2762286	chr2:151351927-151395632	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151363000-151366200	Enhancers	Fetal Heart	heart
2	chr2:151363800-151369400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:151365000-151365200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:151365000-151365400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:151365000-151365400	Enhancers	NHLF	lung

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