Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24479242..24483220-chr3:24534441..24537229,5	MCF-7	breast:
2	chr3:24481444..24484786-chr3:24488715..24492560,4	K562	blood:

Variant related genes	Relation type
ENSG00000151090	Chromatin interaction
ENSG00000228791	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1010163	1.00[JPT][hapmap]
rs13070456	1.00[JPT][hapmap]
rs13070554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086758	1.00[JPT][hapmap]
rs13098564	1.00[JPT][hapmap]
rs13099463	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787379	0.80[GIH][hapmap];1.00[JPT][hapmap]
rs1865714	1.00[CHB][hapmap]
rs2196428	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2196432	1.00[JPT][hapmap]
rs35194357	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35317485	0.92[EUR][1000 genomes]
rs35570323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35947386	0.89[EUR][1000 genomes]
rs3943744	1.00[JPT][hapmap]
rs4858117	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56101205	0.91[EUR][1000 genomes]
rs6781559	0.84[CEU][hapmap]
rs6807873	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619134	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7632924	1.00[CHB][hapmap]
rs9812620	1.00[JPT][hapmap]
rs9830855	1.00[CHB][hapmap]
rs9831133	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883790	0.97[AMR][1000 genomes];0.99[EUR][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	nsv834640	chr3:24339779-24493605	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv834641	chr3:24465862-24633738	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv834642	chr3:24475558-24640593	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr3:24458800-24490200	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:24474800-24483600	Enhancers	Fetal Intestine Large	intestine
3	chr3:24477000-24493000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:24477200-24490400	Weak transcription	Aorta	Aorta
5	chr3:24477200-24493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:24477400-24482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:24478200-24482400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:24478200-24491400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:24478400-24490000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:24478400-24493400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:24479000-24482400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:24480400-24482400	Weak transcription	Psoas Muscle	Psoas
13	chr3:24480800-24482400	Weak transcription	Pancreas	Pancrea
14	chr3:24480800-24482400	Weak transcription	Right Ventricle	heart
15	chr3:24480800-24486200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:24481000-24484000	Enhancers	Fetal Intestine Small	intestine
17	chr3:24481800-24483000	Enhancers	Left Ventricle	heart
18	chr3:24482000-24482400	Weak transcription	Right Atrium	heart
19	chr3:24482000-24483200	Enhancers	Liver	Liver
20	chr3:24482200-24483200	Enhancers	HepG2	liver
21	chr3:24482200-24483600	Enhancers	K562	blood

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