Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119824290..119825948-chr12:119827954..119830665,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10774493	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10849649	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11064769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12099460	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12306000	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12306360	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12306535	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12314123	1.00[ASN][1000 genomes]
rs12708370	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12830127	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285401	1.00[CHB][hapmap]
rs2393547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34161061	1.00[ASN][1000 genomes]
rs35135358	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35143406	1.00[ASN][1000 genomes]
rs35785729	1.00[ASN][1000 genomes]
rs4238064	1.00[ASN][1000 genomes]
rs4767814	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs68162769	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7296648	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7297109	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119819400-119830800	Weak transcription	Right Atrium	heart
2	chr12:119820400-119826800	Weak transcription	Left Ventricle	heart
3	chr12:119823600-119825200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:119823600-119825400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:119823600-119825800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:119823800-119825000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:119824400-119825400	Enhancers	Fetal Lung	lung
8	chr12:119824600-119824800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:119824600-119824800	Bivalent Enhancer	Brain Hippocampus Middle	brain
10	chr12:119824600-119825200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:119824600-119825200	Enhancers	Fetal Heart	heart
12	chr12:119824600-119826000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:119824600-119827800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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