Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10774493	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849649	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064769	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11064774	1.00[ASN][1000 genomes]
rs12099460	1.00[ASN][1000 genomes]
rs12306000	1.00[ASN][1000 genomes]
rs12306360	0.95[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306535	1.00[ASN][1000 genomes]
rs12314123	1.00[ASN][1000 genomes]
rs12708370	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830127	1.00[ASN][1000 genomes]
rs2393547	1.00[ASN][1000 genomes]
rs34161061	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35135358	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35143406	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35785729	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238064	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767814	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767816	1.00[ASN][1000 genomes]
rs7296648	1.00[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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119817400-119822400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:119817600-119823600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:119819400-119830800	Weak transcription	Right Atrium	heart
4	chr12:119819600-119823600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:119820200-119824400	Weak transcription	Fetal Lung	lung
6	chr12:119820400-119822400	Weak transcription	Right Ventricle	heart
7	chr12:119820400-119826800	Weak transcription	Left Ventricle	heart
8	chr12:119820600-119824600	Weak transcription	Fetal Heart	heart

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