Variant report

Variant	rs431606
Chromosome Location	chr11:85379051-85379052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85373551..85376887-chr11:85377014..85379944,4	K562	blood:
2	chr11:85375518..85379282-chr11:85955454..85957196,3	K562	blood:

Variant related genes	Relation type
ENSG00000137504	Chromatin interaction
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1046216	0.81[CHB][hapmap];0.85[CHD][hapmap];0.87[ASN][1000 genomes]
rs11600919	0.88[ASN][1000 genomes]
rs11603256	0.86[CHB][hapmap];0.87[CHD][hapmap];0.86[ASN][1000 genomes]
rs1237203	0.86[CHB][hapmap];0.97[CHD][hapmap]
rs2117312	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2196168	0.86[CHB][hapmap];0.95[CHD][hapmap];0.80[MEX][hapmap];0.86[ASN][1000 genomes]
rs290171	0.91[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs290179	0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs290180	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs290181	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs290183	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs290184	0.86[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs290185	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs290193	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs290198	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs290200	0.80[CHD][hapmap]
rs370385	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs3753050	0.86[CHB][hapmap];0.90[CHD][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs3781815	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs3817087	0.86[ASN][1000 genomes]
rs3824956	0.86[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs3862782	0.86[CHB][hapmap];0.95[CHD][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs4944530	0.86[ASN][1000 genomes]
rs552013	0.83[ASN][1000 genomes]
rs57296431	0.83[ASN][1000 genomes]
rs575013	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs575050	0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[LWK][hapmap];0.92[YRI][hapmap];0.81[ASN][1000 genomes]
rs592460	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs61342895	0.81[ASN][1000 genomes]
rs7107788	0.86[CHB][hapmap];0.90[CHD][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs7116195	0.86[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs881120	0.86[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs956202	0.86[CHB][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85376200-85384000	Weak transcription	Small Intestine	intestine
2	chr11:85376600-85380200	Weak transcription	Right Atrium	heart
3	chr11:85377000-85381800	Weak transcription	Liver	Liver
4	chr11:85377000-85382200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:85377000-85383800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:85377200-85382000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:85378000-85382000	Weak transcription	HepG2	liver

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