Variant report

Variant	rs11693545
Chromosome Location	chr2:21292377-21292378
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11693760	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11693775	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1367113	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1367115	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17395333	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17395512	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17399144	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1897083	0.85[AMR][1000 genomes]
rs2115838	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2163203	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2195597	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2337383	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2878956	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4665176	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4665492	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56079819	0.83[AMR][1000 genomes]
rs56090741	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56201838	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56306424	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61539677	0.81[AMR][1000 genomes]
rs62122514	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62122515	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62122516	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62122520	0.80[AMR][1000 genomes]
rs62135035	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6548010	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6548011	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6726115	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs754523	0.84[AMR][1000 genomes]
rs754524	0.95[ASN][1000 genomes]
rs7566030	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7575840	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7590135	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs934198	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21290000-21293600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:21291000-21292600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:21291000-21292800	Enhancers	HepG2	liver
4	chr2:21291200-21292800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:21291200-21292800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:21291400-21292600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:21291400-21292800	Weak transcription	HUVEC	blood vessel
8	chr2:21291600-21292600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:21291600-21292800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:21291600-21293400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:21291800-21292600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:21292200-21293000	Weak transcription	H9 Cell Line	embryonic stem cell

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