Variant report

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:102500260-102500410	HMEC	breast:	n/a	n/a
2	CTCF	chr8:102500320-102500470	HCT-116	colon:	n/a	n/a
3	CTCF	chr8:102500280-102500430	BE2_C	brain:	n/a	n/a
4	CTCF	chr8:102500300-102500450	HCM	heart:	n/a	n/a
5	CTCF	chr8:102500300-102500450	HRE	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102337542..102358418-chr8:102498403..102509669,87	MCF-7	breast:
2	chr8:102366174..102402527-chr8:102495873..102512355,186	MCF-7	breast:
3	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
4	chr8:102313558..102315796-chr8:102498661..102502752,3	MCF-7	breast:
5	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2847730	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs475304	0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs514588	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs515622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523244	0.86[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs534285	1.00[JPT][hapmap]
rs537658	0.82[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541154	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[ASN][1000 genomes]
rs541226	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560043	1.00[JPT][hapmap]
rs561626	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs568894	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs589919	0.92[ASN][1000 genomes]
rs624013	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687909	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs509390	RUNX1	trans	brain	seeQTL
rs509390	CD14	trans	brain	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102496200-102501000	Enhancers	Placenta	Placenta
2	chr8:102496600-102501200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:102497400-102503000	Weak transcription	Stomach Mucosa	stomach
4	chr8:102497400-102506000	Weak transcription	Ovary	ovary
5	chr8:102498400-102500800	Weak transcription	Esophagus	oesophagus
6	chr8:102499200-102500600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:102499800-102503400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:102500400-102501600	Enhancers	iPS-15b Cell Line	embryonic stem cell

Quick Search: