Variant report

Variant	rs11703478
Chromosome Location	chr22:31513623-31513624
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1004243	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11089488	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089489	0.89[AFR][1000 genomes]
rs11703403	0.85[AFR][1000 genomes]
rs11705137	0.87[AFR][1000 genomes]
rs12167220	0.87[AFR][1000 genomes]
rs12330010	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484046	0.80[EUR][1000 genomes]
rs13053329	0.87[AFR][1000 genomes]
rs13054770	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558023	0.83[EUR][1000 genomes]
rs1807739	0.87[AFR][1000 genomes]
rs2079429	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35413173	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35657209	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35685997	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281997	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4820934	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4820938	0.81[AFR][1000 genomes]
rs4820939	0.83[AFR][1000 genomes]
rs4820940	0.87[AFR][1000 genomes]
rs4820941	0.87[AFR][1000 genomes]
rs62236159	0.89[ASN][1000 genomes]
rs7284108	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7284757	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7285617	0.81[EUR][1000 genomes]
rs737930	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8135353	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137317	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9619163	0.82[EUR][1000 genomes]
rs9621173	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9621178	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9621184	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621185	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621187	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9621188	0.87[AFR][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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31504200-31515000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:31504200-31515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:31504400-31517800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr22:31504400-31518000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:31504600-31518600	Weak transcription	Fetal Brain Female	brain
6	chr22:31512600-31517800	Weak transcription	Aorta	Aorta

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