Variant report

Variant	rs6611493
Chromosome Location	chrX:56301153-56301154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1033565	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs12862304	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2375630	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs2375631	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap]
rs3747284	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4826308	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][hapmap]
rs5913918	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5960155	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs5960669	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs6521375	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap]
rs6521376	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs6612506	0.87[CEU][hapmap];0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752678	chrX:55930768-56851953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2753382	chrX:55930768-56851953	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2754448	chrX:55930768-56851953	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755974	chrX:55930768-56851953	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv432333	chrX:55930768-56851953	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2756104	chrX:56292362-56824154	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56259800-56316200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chrX:56269400-56320200	Weak transcription	Brain Germinal Matrix	brain
3	chrX:56275000-56305400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chrX:56275000-56316200	Weak transcription	Colon Smooth Muscle	Colon
5	chrX:56279200-56310800	Weak transcription	Aorta	Aorta
6	chrX:56279400-56316800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chrX:56280400-56320000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chrX:56286000-56336600	Weak transcription	Left Ventricle	heart
9	chrX:56289600-56305600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chrX:56290200-56314400	Weak transcription	Fetal Intestine Small	intestine
11	chrX:56291000-56312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chrX:56292200-56302200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chrX:56292200-56304000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chrX:56292200-56310800	Weak transcription	Fetal Stomach	stomach
15	chrX:56292400-56310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chrX:56296200-56304000	Weak transcription	Esophagus	oesophagus
17	chrX:56297200-56310800	Weak transcription	Ovary	ovary
18	chrX:56297400-56304000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chrX:56297400-56316800	Weak transcription	Primary B cells from peripheral blood	blood
20	chrX:56297600-56316000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chrX:56298600-56314800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chrX:56299200-56304000	Weak transcription	Adipose Nuclei	Adipose

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