Variant report

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:102502831-102507688	MCF-7	breast:	n/a	n/a
2	CTCF	chr8:102503160-102503310	HMEC	breast:	n/a	n/a
3	CTCF	chr8:102503100-102503250	SAEC	small airway:	n/a	n/a
4	RAD21	chr8:102502828-102505295	MCF-7	breast:	n/a	n/a
5	E2F4	chr8:102503089-102503346	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr8:102503179-102503301	LNCaP	prostate:	n/a	n/a
7	RAD21	chr8:102503131-102503270	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr8:102502937-102503436	MCF-7	breast:	n/a	n/a
9	CTCF	chr8:102503175-102503250	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr8:102503200-102503350	HMEC	breast:	n/a	n/a
11	CTCF	chr8:102503151-102503274	LNCaP	prostate:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102337542..102358418-chr8:102498403..102509669,87	MCF-7	breast:
2	chr8:102502419..102504596-chr8:103229752..103231759,2	MCF-7	breast:
3	chr8:102366174..102402527-chr8:102495873..102512355,186	MCF-7	breast:
4	chr8:102402569..102408629-chr8:102502856..102508138,9	MCF-7	breast:
5	chr8:102503148..102509288-chr8:102639386..102649682,19	MCF-7	breast:
6	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
7	chr8:102408567..102411486-chr8:102500587..102503293,2	MCF-7	breast:
8	chr8:99305569..99307437-chr8:102502783..102504954,2	MCF-7	breast:
9	chr14:35803831..35805653-chr8:102502064..102503841,2	MCF-7	breast:
10	chr8:102502862..102504515-chr8:103249250..103251732,2	MCF-7	breast:
11	chr6:30583199..30584838-chr8:102502363..102505193,2	MCF-7	breast:
12	chr8:102501541..102504149-chr8:102653315..102655059,2	MCF-7	breast:
13	chr2:11619498..11621530-chr8:102501858..102504474,2	MCF-7	breast:
14	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10435531	1.00[YRI][hapmap]
rs2847730	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs475304	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs509390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514588	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs515622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523244	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs534285	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs537658	0.82[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs541226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560043	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs561626	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs568894	1.00[JPT][hapmap]
rs589919	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs680890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687909	0.82[AMR][1000 genomes];0.92[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	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	nsv891229	chr8:102490380-102511670	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 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	chr8:102497400-102506000	Weak transcription	Ovary	ovary
2	chr8:102499800-102503400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:102501000-102503600	Weak transcription	Pancreas	Pancrea
4	chr8:102501200-102507600	Active TSS	Placenta Amnion	Placenta Amnion
5	chr8:102502200-102503600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:102502600-102504400	Active TSS	Placenta	Placenta
7	chr8:102502800-102503400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:102503000-102503400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:102503000-102503400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr8:102503000-102503400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:102503000-102503400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:102503000-102503600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:102503000-102503800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:102503000-102504400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:102503000-102504400	Flanking Active TSS	NHEK	skin
16	chr8:102503000-102504800	Bivalent/Poised TSS	Fetal Lung	lung
17	chr8:102503000-102506800	Active TSS	Esophagus	oesophagus
18	chr8:102503200-102503600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:102503200-102503600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:102503200-102503800	Active TSS	HMEC	breast

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