Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr1:209877063-209877679	GM12878	blood:	n/a	chr1:209877279-209877293 chr1:209877360-209877371 chr1:209877357-209877378 chr1:209877357-209877378 chr1:209877359-209877373 chr1:209877281-209877292 chr1:209877278-209877293 chr1:209877362-209877371 chr1:209877361-209877372 chr1:209877359-209877374 chr1:209877280-209877291 chr1:209877358-209877374
2	E2F4	chr1:209877515-209877753	MCF10A-Er-Src	breast:	n/a	chr1:209877609-209877616 chr1:209877608-209877617 chr1:209877609-209877616 chr1:209877609-209877616 chr1:209877608-209877620
3	MEF2A	chr1:209877014-209877630	GM12878	blood:	n/a	chr1:209877279-209877293 chr1:209877360-209877371 chr1:209877357-209877378 chr1:209877357-209877378 chr1:209877359-209877373 chr1:209877281-209877292 chr1:209877278-209877293 chr1:209877362-209877371 chr1:209877361-209877372 chr1:209877359-209877374 chr1:209877280-209877291 chr1:209877358-209877374
4	MEF2C	chr1:209877069-209877632	GM12878	blood:	n/a	chr1:209877279-209877293 chr1:209877360-209877371 chr1:209877357-209877378 chr1:209877357-209877378 chr1:209877359-209877374 chr1:209877359-209877373 chr1:209877281-209877292 chr1:209877278-209877293 chr1:209877362-209877371 chr1:209877361-209877372 chr1:209877359-209877374 chr1:209877280-209877291 chr1:209877358-209877374
5	CEBPB	chr1:209877518-209877727	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:209877529-209877734	A549	lung:	n/a	n/a

Variant related genes	Relation type
HSD11B1	TF binding region

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

rs_ID	r²[population]
rs10489341	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11799643	1.00[CHB][hapmap]
rs12040780	1.00[CHB][hapmap]
rs17015095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17015099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56679555	0.93[ASN][1000 genomes]
rs57606822	1.00[ASN][1000 genomes]
rs60132042	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs73089407	0.86[ASN][1000 genomes]
rs73089412	0.86[ASN][1000 genomes]
rs73089418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846909	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs846915	0.86[ASN][1000 genomes]
rs861762	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA 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	chr1:209870800-209880000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209870800-209880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:209875200-209877800	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:209875200-209878000	Enhancers	Brain Hippocampus Middle	brain
5	chr1:209875200-209882400	Enhancers	Brain Substantia Nigra	brain
6	chr1:209876800-209878200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:209876800-209878200	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:209876800-209878200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:209876800-209878200	Enhancers	Fetal Heart	heart
10	chr1:209877000-209878000	Enhancers	Brain Anterior Caudate	brain
11	chr1:209877000-209878800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:209877200-209877800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:209877200-209878200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:209877200-209878200	Enhancers	Adipose Nuclei	Adipose
15	chr1:209877400-209878200	Enhancers	Liver	Liver
16	chr1:209877400-209878400	Enhancers	GM12878-XiMat	blood
17	chr1:209877400-209878600	Enhancers	Brain Angular Gyrus	brain
18	chr1:209877400-209878600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:209877400-209878600	Flanking Active TSS	Ovary	ovary
20	chr1:209877400-209882600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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