Variant report

Variant	rs4144216
Chromosome Location	chr6:130881219-130881220
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	chr6:130876811..130878612-chr6:130880460..130883120,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10872372	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203340	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1203341	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1203342	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1203343	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1203344	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1203345	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1203346	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1203347	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1203348	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12526873	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1316493	0.85[EUR][1000 genomes]
rs1316537	0.85[EUR][1000 genomes]
rs1316538	0.85[EUR][1000 genomes]
rs1317232	0.85[EUR][1000 genomes]
rs1933757	0.85[EUR][1000 genomes]
rs1933759	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2876084	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4895886	0.86[EUR][1000 genomes]
rs4895887	0.85[EUR][1000 genomes]
rs4897437	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs6569688	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6569690	0.86[EUR][1000 genomes]
rs6932172	0.90[EUR][1000 genomes]
rs6932344	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6932512	0.85[EUR][1000 genomes]
rs6940599	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs766966	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs766967	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7744825	0.85[EUR][1000 genomes]
rs7768049	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9321238	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs9321239	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9321241	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9372966	0.86[EUR][1000 genomes]
rs9372967	0.85[EUR][1000 genomes]
rs9375740	0.86[EUR][1000 genomes]
rs9375741	0.86[EUR][1000 genomes]
rs9375742	0.84[EUR][1000 genomes]
rs9388808	0.85[EUR][1000 genomes]
rs9402246	0.86[EUR][1000 genomes]
rs9402247	0.86[EUR][1000 genomes]
rs9402248	0.85[EUR][1000 genomes]
rs9483145	0.85[EUR][1000 genomes]
rs9492649	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv427767	chr6:130875056-131008620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv5475	chr6:130880169-130924850	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130879200-130881400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:130879400-130881400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:130880000-130882200	Enhancers	HSMMtube	muscle
4	chr6:130880200-130882000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:130880400-130882200	Enhancers	NH-A	brain
6	chr6:130880600-130881600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:130880600-130881800	Enhancers	Osteobl	bone
8	chr6:130881000-130882000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:130881200-130882200	Enhancers	HSMM	muscle

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