Variant report

Variant	rs244587
Chromosome Location	chr5:58674724-58674725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs154031	0.92[ASN][1000 genomes]
rs165940	0.83[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs168641	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16889733	0.83[EUR][1000 genomes]
rs187368	0.83[EUR][1000 genomes]
rs193447	0.80[GIH][hapmap]
rs2441091	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs244577	0.81[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs244579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs244580	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs244581	0.92[ASN][1000 genomes]
rs244582	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs244583	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs244586	0.82[ASN][1000 genomes]
rs244588	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs244590	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs244591	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs244592	0.83[EUR][1000 genomes]
rs244593	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs244594	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs244595	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs244596	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs244597	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs258128	0.87[CEU][hapmap];0.88[TSI][hapmap]
rs35258	0.87[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap]
rs35267	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.92[ASN][1000 genomes]
rs35274	0.83[CHD][hapmap]
rs35278	0.81[CHB][hapmap]
rs35283	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs35284	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs365223	0.84[EUR][1000 genomes]
rs368538	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs370891	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs378858	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs380993	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs383046	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs387647	0.87[CEU][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs40122	1.00[GIH][hapmap]
rs403672	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs403695	0.87[CEU][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs424839	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs427433	0.83[EUR][1000 genomes]
rs428059	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs431645	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs432879	0.81[EUR][1000 genomes]
rs433161	0.83[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs434183	0.81[EUR][1000 genomes]
rs434274	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs434422	0.83[EUR][1000 genomes]
rs441817	0.83[EUR][1000 genomes]
rs444552	0.83[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs454702	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs530656	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs531511	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881704	chr5:58653383-58675538	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv881705	chr5:58668669-58745872	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1034656	chr5:58674724-58755580	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58666000-58681400	Weak transcription	Psoas Muscle	Psoas
2	chr5:58668000-58676200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:58668800-58675600	Weak transcription	Pancreas	Pancrea
4	chr5:58671000-58676200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:58672200-58689200	Weak transcription	Fetal Brain Female	brain
6	chr5:58672800-58681600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:58673800-58677400	Weak transcription	Fetal Intestine Large	intestine
8	chr5:58674400-58676000	Genic enhancers	A549	lung
9	chr5:58674600-58675000	Enhancers	Fetal Brain Male	brain

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