Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119806583..119808984-chr12:119813219..119815539,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10774493	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849649	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064769	0.81[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306535	1.00[ASN][1000 genomes]
rs12314123	1.00[ASN][1000 genomes]
rs12708370	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830127	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2393547	1.00[ASN][1000 genomes]
rs35135358	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35143406	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35785729	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767816	1.00[ASN][1000 genomes]
rs68162769	0.81[AFR][1000 genomes]
rs7296648	1.00[ASN][1000 genomes]
rs7297109	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv899552	chr12:119733874-119814623	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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	chr12:119810000-119814400	Enhancers	Fetal Lung	lung
2	chr12:119811400-119814800	Weak transcription	Esophagus	oesophagus
3	chr12:119811400-119816600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:119811400-119819600	Weak transcription	Lung	lung
5	chr12:119814000-119816200	Weak transcription	Fetal Heart	heart
6	chr12:119814000-119816600	Weak transcription	Right Atrium	heart
7	chr12:119814000-119816600	Weak transcription	Right Ventricle	heart
8	chr12:119814200-119816000	Weak transcription	Left Ventricle	heart

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