Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:85694538..85697394-chr1:85706640..85709318,2	MCF-7	breast:
2	chr1:85665411..85671906-chr1:85683759..85698338,27	MCF-7	breast:
3	chr1:85669385..85672155-chr1:85695196..85696982,2	MCF-7	breast:
4	chr1:85694772..85696982-chr1:85723069..85725397,2	MCF-7	breast:
5	chr1:85665829..85668570-chr1:85695074..85696808,2	K562	blood:

Variant related genes	Relation type
ENSG00000162642	Chromatin interaction
ENSG00000097096	Chromatin interaction

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11161547	0.89[EUR][1000 genomes]
rs11161555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161558	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161563	0.90[JPT][hapmap];0.82[AMR][1000 genomes]
rs11161566	0.82[JPT][hapmap]
rs11161572	0.82[JPT][hapmap]
rs12037869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124665	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12133263	0.82[JPT][hapmap]
rs12143319	0.81[JPT][hapmap]
rs12406129	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9433250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
2	chr1:85689400-85696000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:85690800-85696000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:85691400-85696200	Weak transcription	Right Ventricle	heart
5	chr1:85691600-85696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:85691600-85696200	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:85691600-85696400	Weak transcription	Right Atrium	heart
8	chr1:85691800-85697000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:85692000-85696000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:85692000-85697400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85692200-85697400	Weak transcription	NHEK	skin
12	chr1:85694200-85696400	Enhancers	Fetal Heart	heart
13	chr1:85694200-85696400	Enhancers	Fetal Lung	lung
14	chr1:85694600-85696600	Enhancers	Stomach Mucosa	stomach
15	chr1:85694800-85696400	Enhancers	HepG2	liver
16	chr1:85695200-85696000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:85695400-85696400	Enhancers	K562	blood
18	chr1:85695400-85696600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:85695600-85696400	Enhancers	Gastric	stomach
20	chr1:85695600-85696600	Enhancers	Left Ventricle	heart

Quick Search: