Variant report

Variant	rs12499068
Chromosome Location	chr4:143343632-143343633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10021260	0.81[EUR][1000 genomes]
rs10428305	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1120454	0.81[EUR][1000 genomes]
rs1155075	0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs11723890	0.85[GIH][hapmap]
rs11945935	0.85[AMR][1000 genomes]
rs1353624	0.90[GIH][hapmap]
rs1391092	0.92[CEU][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1497390	0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs1497391	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs1497393	0.92[CEU][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap]
rs1497396	0.92[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs1565307	0.83[JPT][hapmap]
rs17016001	0.82[GIH][hapmap]
rs17658809	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2200841	0.92[CEU][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap]
rs2840094	0.87[ASN][1000 genomes]
rs3756125	0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775719	0.86[ASN][1000 genomes]
rs62328324	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6827918	0.81[GIH][hapmap]
rs6842192	0.96[CEU][hapmap];0.89[JPT][hapmap]
rs7666932	0.92[CEU][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap]
rs9308149	0.81[EUR][1000 genomes]
rs931420	0.80[EUR][1000 genomes]
rs931636	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977617	0.90[CEU][hapmap];0.88[JPT][hapmap]

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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143329000-143350000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143330200-143344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:143338600-143344800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:143338600-143348800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:143338600-143366600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:143339000-143355400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:143341000-143344800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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