Variant report

No.	Distal block	Cell Line	Cell type
1	chr22:31534039..31536501-chr22:31538813..31541013,2	K562	blood:
2	chr22:31490963..31492744-chr22:31538317..31540744,2	MCF-7	breast:
3	chr22:31538424..31540248-chr22:31554782..31556431,2	MCF-7	breast:
4	chr22:31537984..31540671-chr22:31548834..31552374,3	K562	blood:
5	chr22:31518708..31521060-chr22:31538019..31540317,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2079430	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2413030	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3761431	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4618154	0.88[CHB][hapmap]
rs4820944	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs5753480	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753481	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5753482	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237392	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs730286	0.88[CHB][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	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31536200-31540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:31536600-31539800	Enhancers	Esophagus	oesophagus
3	chr22:31536600-31540600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:31537400-31540000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:31538200-31540800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:31538600-31540400	Enhancers	NHEK	skin
7	chr22:31538800-31539800	Enhancers	Brain Anterior Caudate	brain
8	chr22:31538800-31539800	Enhancers	Brain Cingulate Gyrus	brain
9	chr22:31538800-31539800	Enhancers	Fetal Muscle Leg	muscle
10	chr22:31538800-31539800	Enhancers	Right Ventricle	heart
11	chr22:31538800-31539800	Enhancers	Spleen	Spleen
12	chr22:31538800-31540000	Enhancers	Brain Hippocampus Middle	brain
13	chr22:31538800-31540000	Enhancers	Brain Substantia Nigra	brain
14	chr22:31538800-31540000	Enhancers	Placenta	Placenta
15	chr22:31538800-31540000	Weak transcription	HMEC	breast
16	chr22:31539000-31540000	Enhancers	Fetal Muscle Trunk	muscle
17	chr22:31539400-31539800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:31539400-31540000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:31539600-31539800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:31539600-31543800	Weak transcription	Right Atrium	heart
21	chr22:31539600-31544800	Weak transcription	Brain Inferior Temporal Lobe	brain

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