Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:135625715..135628669-chr3:135629036..135632014,2	MCF-7	breast:
2	chr3:135627443..135629414-chr3:135629834..135632585,2	K562	blood:
3	chr3:135628481..135630061-chr3:135630824..135632855,2	MCF-7	breast:
4	chr3:135622647..135625440-chr3:135628057..135630167,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10512973	1.00[ASN][1000 genomes]
rs11929444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16843486	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16843494	1.00[ASN][1000 genomes]
rs2203851	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2400730	1.00[ASN][1000 genomes]
rs35250006	1.00[ASN][1000 genomes]
rs35279847	1.00[ASN][1000 genomes]
rs4355231	1.00[ASN][1000 genomes]
rs57670168	1.00[ASN][1000 genomes]
rs58592880	1.00[ASN][1000 genomes]
rs59698186	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60986685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6791233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6803447	1.00[ASN][1000 genomes]
rs72979641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7622329	1.00[ASN][1000 genomes]
rs7623246	1.00[ASN][1000 genomes]
rs7624531	1.00[ASN][1000 genomes]
rs7624798	1.00[ASN][1000 genomes]
rs7627556	1.00[ASN][1000 genomes]
rs7631993	1.00[ASN][1000 genomes]
rs7644688	1.00[ASN][1000 genomes]
rs7644806	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7652241	1.00[ASN][1000 genomes]
rs885427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9833470	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	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135627400-135630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:135627400-135632000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:135627600-135630400	Weak transcription	Gastric	stomach
4	chr3:135628200-135635800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:135629600-135630000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:135629600-135630600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:135629600-135630600	Enhancers	Fetal Muscle Leg	muscle
8	chr3:135629600-135630800	Enhancers	Fetal Stomach	stomach
9	chr3:135629800-135630000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:135629800-135630400	Enhancers	Fetal Lung	lung

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