Variant report

Variant	rs1057486
Chromosome Location	chr12:44260041-44260042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10736017	0.92[ASN][1000 genomes]
rs10748373	0.97[EUR][1000 genomes]
rs10748378	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785462	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785463	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785466	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785468	0.81[EUR][1000 genomes]
rs10785469	0.84[ASN][1000 genomes]
rs10880573	0.86[ASN][1000 genomes]
rs10880578	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880585	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182293	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182324	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182325	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12298970	0.95[EUR][1000 genomes]
rs12311962	0.95[EUR][1000 genomes]
rs12314126	0.91[EUR][1000 genomes]
rs1358705	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1406787	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1609548	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1609549	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1610291	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1614042	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1621279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1622590	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1623667	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1623829	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1675755	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1675756	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675758	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675764	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675767	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675771	0.97[EUR][1000 genomes]
rs1675774	0.95[EUR][1000 genomes]
rs1675776	0.96[EUR][1000 genomes]
rs1675777	0.85[EUR][1000 genomes]
rs1675778	0.97[EUR][1000 genomes]
rs1675781	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1675782	0.96[EUR][1000 genomes]
rs1675783	0.97[EUR][1000 genomes]
rs1675784	0.97[EUR][1000 genomes]
rs1675785	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1675787	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675788	0.93[EUR][1000 genomes]
rs1675789	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1675790	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731423	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731427	0.97[ASN][1000 genomes]
rs1731429	0.97[ASN][1000 genomes]
rs1731430	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731431	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731432	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731434	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731438	0.95[EUR][1000 genomes]
rs1731439	0.95[EUR][1000 genomes]
rs1731440	0.97[EUR][1000 genomes]
rs1731442	0.97[EUR][1000 genomes]
rs1731447	0.90[ASN][1000 genomes]
rs1731448	0.96[EUR][1000 genomes]
rs1731450	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1731452	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731456	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731457	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731458	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1731459	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2219629	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2407783	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2447113	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2447114	0.97[EUR][1000 genomes]
rs2447115	0.97[EUR][1000 genomes]
rs2447116	0.97[EUR][1000 genomes]
rs2614394	0.98[ASN][1000 genomes]
rs2951435	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2951436	0.97[EUR][1000 genomes]
rs4238089	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4238090	0.92[ASN][1000 genomes]
rs4238091	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4354753	0.95[ASN][1000 genomes]
rs4363674	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4469953	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4537822	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4572198	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4572199	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4609659	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768049	0.96[EUR][1000 genomes]
rs4768052	0.85[ASN][1000 genomes]
rs4768053	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768538	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768543	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5019975	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7295151	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7305609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73096934	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7955615	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7972025	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3496542	chr12:44259364-44260472	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	esv3496553	chr12:44259364-44260472	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
4	chr12:44252200-44260800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:44255800-44260400	Weak transcription	Fetal Stomach	stomach
6	chr12:44256000-44260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:44256200-44260800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:44256400-44260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
10	chr12:44256600-44260600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:44256600-44263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:44256600-44263000	Weak transcription	NHEK	skin
13	chr12:44256800-44263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:44258200-44273600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:44259000-44260200	Weak transcription	Fetal Intestine Large	intestine
16	chr12:44259200-44263000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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