Variant report

Variant	rs1731431
Chromosome Location	chr12:44279870-44279871
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44127316..44130313-chr12:44278484..44280502,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1057486	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10736017	0.94[ASN][1000 genomes]
rs10748373	0.89[EUR][1000 genomes]
rs10748378	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785462	0.88[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785463	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785466	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785468	0.87[EUR][1000 genomes]
rs10785469	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880573	0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs10880578	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880585	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182273	0.88[CHB][hapmap]
rs11182293	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182324	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182325	0.88[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12298970	0.87[EUR][1000 genomes]
rs12311962	0.87[EUR][1000 genomes]
rs12314126	0.84[EUR][1000 genomes]
rs1358705	0.85[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406787	0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609548	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609549	0.88[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1610291	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1614042	0.85[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621279	0.88[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622590	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623667	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1623829	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1675755	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1675756	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675764	0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675765	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675767	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675769	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675771	0.89[EUR][1000 genomes]
rs1675772	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs1675774	0.91[EUR][1000 genomes]
rs1675776	0.88[EUR][1000 genomes]
rs1675778	0.89[EUR][1000 genomes]
rs1675781	0.88[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675782	0.88[EUR][1000 genomes]
rs1675783	0.89[EUR][1000 genomes]
rs1675784	0.89[EUR][1000 genomes]
rs1675785	0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675787	0.88[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675788	0.94[EUR][1000 genomes]
rs1675789	0.88[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675790	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731423	0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731427	0.88[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs1731429	0.98[ASN][1000 genomes]
rs1731430	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731432	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731434	0.88[CHB][hapmap];0.85[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731438	0.91[EUR][1000 genomes]
rs1731439	0.91[EUR][1000 genomes]
rs1731440	0.89[EUR][1000 genomes]
rs1731442	0.89[EUR][1000 genomes]
rs1731447	0.91[ASN][1000 genomes]
rs1731448	0.88[EUR][1000 genomes]
rs1731452	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731454	0.88[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731456	0.85[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731457	0.85[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731458	0.85[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731459	0.88[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219629	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407783	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2447113	0.85[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447114	0.89[EUR][1000 genomes]
rs2447115	0.89[EUR][1000 genomes]
rs2447116	0.89[EUR][1000 genomes]
rs2614394	0.88[CHB][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs2951435	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2951436	0.89[EUR][1000 genomes]
rs4238089	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4238090	0.94[ASN][1000 genomes]
rs4238091	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4354753	0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs4363674	0.88[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4469953	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4537822	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4572198	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4572199	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4609659	0.88[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768049	0.88[EUR][1000 genomes]
rs4768052	0.87[ASN][1000 genomes]
rs4768053	0.88[CHB][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768538	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768543	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5019975	0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5023324	0.80[AFR][1000 genomes]
rs6582484	0.88[CHB][hapmap]
rs7295151	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7305609	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096934	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311847	0.86[AFR][1000 genomes]
rs7955615	0.88[CHB][hapmap];0.85[JPT][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965240	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7965330	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7972025	0.88[CHB][hapmap];0.84[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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44274600-44286000	Weak transcription	Pancreas	Pancrea
4	chr12:44275000-44281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:44278400-44280200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:44278600-44285800	Weak transcription	Osteobl	bone
7	chr12:44278600-44287400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:44279000-44280200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr12:44279200-44286200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:44279200-44292600	Weak transcription	Left Ventricle	heart
11	chr12:44279200-44297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:44279600-44283200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:44279600-44285400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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