Variant report

Variant	rs17041848
Chromosome Location	chr1:221737100-221737101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10429956	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10495165	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10495166	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10495167	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10495168	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863635	0.93[EUR][1000 genomes]
rs11118748	0.96[EUR][1000 genomes]
rs11118806	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11118810	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11118817	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12021627	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12021952	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12025710	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12027038	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12036766	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12036771	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12037629	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12037802	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12044981	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12401793	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12401875	1.00[ASN][1000 genomes]
rs12403055	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12403320	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12404274	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12405504	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12406074	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12406778	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12407358	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12409206	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12409261	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12409984	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410562	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12411238	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17010272	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010459	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17010465	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17010479	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17010482	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17010588	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17041852	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17041853	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17661530	0.94[ASN][1000 genomes]
rs35827283	0.83[ASN][1000 genomes]
rs58002157	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58467896	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58516053	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58659812	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58696164	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60805607	0.89[ASN][1000 genomes]
rs61372671	0.83[ASN][1000 genomes]
rs73106612	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73106614	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73106616	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73106619	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73106624	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73106631	1.00[ASN][1000 genomes]
rs73106634	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106648	1.00[ASN][1000 genomes]
rs73116211	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73116215	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73116221	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73117996	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73117998	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73118002	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73119903	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73119910	0.89[ASN][1000 genomes]
rs73119916	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119926	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119928	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119929	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119932	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119935	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119938	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119939	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119945	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119947	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73119948	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1009838	chr1:221692621-221773945	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535301	chr1:221692621-221773945	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221729800-221748600	Weak transcription	Left Ventricle	heart
2	chr1:221729800-221748800	Weak transcription	Pancreas	Pancrea
3	chr1:221735400-221737400	Enhancers	Liver	Liver
4	chr1:221736600-221737200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:221736600-221737200	Enhancers	Ovary	ovary
6	chr1:221736600-221737200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr1:221736600-221737200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr1:221736800-221737200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:221737000-221737200	ZNF genes & repeats	Right Atrium	heart
10	chr1:221737000-221741200	Weak transcription	Psoas Muscle	Psoas
11	chr1:221737000-221741600	Enhancers	Fetal Heart	heart

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