Variant report

Variant	rs12188004
Chromosome Location	chr5:76173866-76173867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10063816	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10070865	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10462547	0.80[TSI][hapmap]
rs10462548	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12517004	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12519617	0.95[CEU][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs12521017	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13163806	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1320306	0.94[ASW][hapmap];0.95[CEU][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1320307	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs1320308	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs1320309	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2359427	0.84[TSI][hapmap]
rs2359428	0.82[EUR][1000 genomes]
rs2359658	1.00[CEU][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes]
rs35807598	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56975406	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57425095	0.91[EUR][1000 genomes]
rs58093808	0.91[EUR][1000 genomes]
rs60192097	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62363086	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62363087	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62363088	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62363089	0.91[EUR][1000 genomes]
rs62363095	0.80[EUR][1000 genomes]
rs6414971	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs6869909	0.84[TSI][hapmap]
rs6872982	0.93[EUR][1000 genomes]
rs6884425	0.91[CEU][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7722773	0.83[CEU][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv34133	chr5:76138696-76239330	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv524024	chr5:76166018-76187777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76153000-76174400	Weak transcription	Primary T cells from cord blood	blood
2	chr5:76170600-76174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:76171000-76182400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:76171200-76175800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:76171600-76177400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:76171600-76192600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:76172800-76174000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:76173400-76174000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:76173400-76176000	Strong transcription	Primary hematopoietic stem cells	blood
10	chr5:76173400-76178600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:76173400-76178600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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