Variant report

Variant	rs71610431
Chromosome Location	chr4:144217133-144217134
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	chr4:144213803..144215459-chr4:144216493..144217994,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10461277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10461278	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10461279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10519679	0.95[EUR][1000 genomes]
rs1108827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933189	0.83[EUR][1000 genomes]
rs11941742	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13104755	0.87[AMR][1000 genomes]
rs13105227	0.95[EUR][1000 genomes]
rs13105258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13107986	0.81[AMR][1000 genomes]
rs13111543	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13113118	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13118809	0.87[AMR][1000 genomes]
rs13127055	0.87[AMR][1000 genomes]
rs13130995	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13131510	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13137712	0.93[AMR][1000 genomes]
rs13140326	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13141368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13142436	0.80[EUR][1000 genomes]
rs13145081	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13145718	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17017424	0.93[EUR][1000 genomes]
rs300907	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300932	0.95[EUR][1000 genomes]
rs300933	0.95[EUR][1000 genomes]
rs300937	0.95[EUR][1000 genomes]
rs300942	0.88[EUR][1000 genomes]
rs300944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300945	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34176541	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34192902	0.87[AMR][1000 genomes]
rs34198661	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34225955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34234071	0.81[AMR][1000 genomes]
rs34398038	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34461753	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34474130	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34583666	0.81[AMR][1000 genomes]
rs34589296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34652171	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34770317	0.87[AMR][1000 genomes]
rs34780033	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35027946	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35095943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35143494	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35305979	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35416586	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35549285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35607189	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35887480	0.95[EUR][1000 genomes]
rs35909303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35971728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35988039	0.88[EUR][1000 genomes]
rs4554015	0.83[EUR][1000 genomes]
rs55693016	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55846476	0.90[EUR][1000 genomes]
rs56085707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56142323	0.93[EUR][1000 genomes]
rs603861	0.93[EUR][1000 genomes]
rs603934	0.93[EUR][1000 genomes]
rs604746	0.93[EUR][1000 genomes]
rs6834491	0.83[EUR][1000 genomes]
rs6842633	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6853356	0.83[EUR][1000 genomes]
rs686770	0.85[EUR][1000 genomes]
rs71610420	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71610422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71610423	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71610426	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71610427	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71610428	0.93[EUR][1000 genomes]
rs71610429	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71610430	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71610432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610438	0.87[AMR][1000 genomes]
rs71610439	0.81[AMR][1000 genomes]
rs71610440	0.87[AMR][1000 genomes]
rs71610442	0.87[AMR][1000 genomes]
rs726022	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7663712	0.82[AMR][1000 genomes]
rs7670050	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7670426	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7674403	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7686023	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9637656	1.00[AMR][1000 genomes];0.90[EUR][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144209000-144217800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:144213000-144217400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:144213000-144217400	Weak transcription	NHEK	skin
4	chr4:144213600-144217600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:144214200-144217400	Weak transcription	HMEC	breast
6	chr4:144216000-144217800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:144216000-144219000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:144216000-144222800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:144216000-144223000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:144216600-144220400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:144216800-144217800	Weak transcription	Placenta	Placenta
12	chr4:144216800-144218200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:144216800-144223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:144216800-144223400	Weak transcription	Fetal Lung	lung
15	chr4:144216800-144223600	Weak transcription	Fetal Stomach	stomach
16	chr4:144216800-144223800	Weak transcription	Fetal Muscle Leg	muscle

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