Variant report

Variant	rs17395333
Chromosome Location	chr2:21323369-21323370
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	chr2:21321831..21323587-chr2:21325099..21327379,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11693545	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11693760	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11693775	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11693870	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12052779	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1367113	0.83[EUR][1000 genomes]
rs1367115	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1367117	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs1713223	1.00[JPT][hapmap]
rs17395512	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17399144	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1897083	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2115838	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2163203	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195597	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337383	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2878956	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4665176	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4665178	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4665179	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4665492	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56079819	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56090741	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56201838	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56306424	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs588245	0.91[JPT][hapmap]
rs61539677	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122514	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62122515	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62122516	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62122520	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62133263	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62133264	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62135035	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6548010	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6548011	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6726115	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs754523	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs754524	0.94[ASN][1000 genomes]
rs7566030	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7575840	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7590135	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs934198	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21315800-21326400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:21318200-21323600	Enhancers	Fetal Intestine Small	intestine
3	chr2:21320800-21326200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:21321200-21326000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:21321200-21326200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:21321400-21326400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:21321400-21326800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:21321600-21326200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:21321800-21325800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:21321800-21326200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:21322600-21325600	Weak transcription	HepG2	liver
12	chr2:21322800-21326000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:21323000-21326200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:21323200-21325400	Weak transcription	Liver	Liver

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