Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:124915045..124918415-chr8:124921775..124925187,3	MCF-7	breast:
2	chr8:124843791..124846042-chr8:124921858..124924618,2	MCF-7	breast:
3	chr8:124923270..124925318-chr8:125461357..125464134,2	MCF-7	breast:
4	chr8:124918718..124920943-chr8:124922678..124925068,2	MCF-7	breast:
5	chr8:124908341..124910827-chr8:124923063..124925979,2	K562	blood:
6	chr8:124828216..124830191-chr8:124923748..124926066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183665	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10089757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10103366	0.81[JPT][hapmap]
rs10110548	0.81[JPT][hapmap]
rs10956153	0.82[CEU][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs10956154	0.97[ASN][1000 genomes]
rs10956155	0.97[ASN][1000 genomes]
rs10956156	0.97[ASN][1000 genomes]
rs11779980	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs11782845	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11787464	0.82[CEU][hapmap];0.85[ASN][1000 genomes]
rs12541526	0.88[ASN][1000 genomes]
rs12544278	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12548182	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs12548510	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12550262	0.83[CEU][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1816368	0.81[JPT][hapmap]
rs28425543	0.97[ASN][1000 genomes]
rs28703921	0.81[ASN][1000 genomes]
rs61030560	0.88[ASN][1000 genomes]
rs6998986	0.81[JPT][hapmap]
rs7823205	0.81[JPT][hapmap]
rs7844410	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs9656949	0.81[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124922800-124925200	Enhancers	Stomach Mucosa	stomach
2	chr8:124922800-124925800	Enhancers	Fetal Intestine Large	intestine
3	chr8:124923000-124927000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:124923200-124925000	Enhancers	Fetal Intestine Small	intestine
5	chr8:124923200-124925400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124923600-124924200	Enhancers	Adipose Nuclei	Adipose
7	chr8:124923600-124924400	Enhancers	Fetal Muscle Leg	muscle
8	chr8:124923600-124924600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:124923600-124924800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:124923600-124925200	Enhancers	Duodenum Mucosa	Duodenum
11	chr8:124923600-124926800	Enhancers	HSMMtube	muscle
12	chr8:124923800-124924000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:124923800-124924200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:124923800-124924400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:124923800-124924400	Enhancers	HSMM	muscle

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