Variant report

No.	Distal block	Cell Line	Cell type
1	chr20:23593307..23595143-chr20:23609634..23612477,2	K562	blood:
2	chr20:23593520..23595172-chr20:23617829..23619387,2	MCF-7	breast:
3	chr20:23587750..23589396-chr20:23593301..23594908,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101439	Chromatin interaction

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

rs_ID	r²[population]
rs16985393	1.00[GIH][hapmap]
rs16985605	0.89[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1966182	0.81[ASW][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs2405390	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2405391	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs56326647	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57526954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60014744	0.88[AFR][1000 genomes]
rs6048913	1.00[CEU][hapmap]
rs6048959	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs60569976	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6106686	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6114187	1.00[EUR][1000 genomes]
rs6114188	1.00[EUR][1000 genomes]
rs6114193	1.00[EUR][1000 genomes]
rs6114194	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7273129	0.87[AFR][1000 genomes]
rs73902104	1.00[EUR][1000 genomes]
rs8115973	0.94[AFR][1000 genomes]
rs8121220	0.88[AFR][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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv20263	chr20:23593820-23594562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23587000-23595600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr20:23588200-23594800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr20:23590400-23595000	Weak transcription	Brain Anterior Caudate	brain
4	chr20:23592200-23595400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr20:23592400-23594800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:23592600-23595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:23593000-23595200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:23593400-23595200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr20:23593600-23595200	Enhancers	Ovary	ovary
10	chr20:23594000-23594400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr20:23594000-23594800	Enhancers	Adipose Nuclei	Adipose
12	chr20:23594000-23595000	Enhancers	Brain Germinal Matrix	brain
13	chr20:23594000-23595200	Enhancers	Right Atrium	heart
14	chr20:23594000-23595400	Enhancers	Rectal Smooth Muscle	rectum
15	chr20:23594000-23595800	Enhancers	Colon Smooth Muscle	Colon
16	chr20:23594200-23594600	Weak transcription	Brain Hippocampus Middle	brain
17	chr20:23594200-23595200	Enhancers	Fetal Muscle Trunk	muscle
18	chr20:23594200-23595200	Enhancers	Skeletal Muscle Male	skeletal muscle

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