Variant report

Variant	rs72978881
Chromosome Location	chr4:86737468-86737469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11936781	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498568	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506184	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563000	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17010961	0.91[ASN][1000 genomes]
rs17011002	0.91[ASN][1000 genomes]
rs17011024	0.98[ASN][1000 genomes]
rs17011039	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1823762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57129466	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57343585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60565316	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61163122	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976750	0.91[ASN][1000 genomes]
rs72976751	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86728200-86747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:86729000-86739400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:86729000-86744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:86729400-86747400	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:86729800-86743600	Weak transcription	HSMMtube	muscle
6	chr4:86729800-86744600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:86730200-86741400	Weak transcription	HSMM	muscle
8	chr4:86731000-86739600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:86734400-86741000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:86734600-86739400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:86734600-86741200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:86734600-86741200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:86734600-86743000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:86734600-86743200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:86734600-86743400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:86734600-86743400	Weak transcription	Aorta	Aorta
17	chr4:86734600-86743400	Weak transcription	Osteobl	bone
18	chr4:86736200-86748600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:86736400-86739600	Weak transcription	Fetal Stomach	stomach
20	chr4:86736600-86739200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:86737000-86737600	Strong transcription	Primary B cells from cord blood	blood
22	chr4:86737000-86740600	Weak transcription	HUVEC	blood vessel
23	chr4:86737200-86737600	Enhancers	K562	blood
24	chr4:86737400-86741200	Weak transcription	Fetal Muscle Leg	muscle

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