Variant report

Variant	rs28544562
Chromosome Location	chr4:86716817-86716818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10020335	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033293	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644339	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120399	0.80[EUR][1000 genomes]
rs13127292	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17399388	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982429	0.87[EUR][1000 genomes]
rs1982430	0.87[EUR][1000 genomes]
rs28375213	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28522299	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28841671	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3028238	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62315355	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62315356	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62315357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670874	0.87[EUR][1000 genomes]
rs9307010	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991970	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86701000-86728800	Weak transcription	Right Ventricle	heart
2	chr4:86704000-86719800	Enhancers	NHDF-Ad	bronchial
3	chr4:86705800-86719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:86708400-86718200	Weak transcription	Aorta	Aorta
5	chr4:86709000-86727000	Weak transcription	HSMMtube	muscle
6	chr4:86709200-86727000	Weak transcription	HSMM	muscle
7	chr4:86711000-86719800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:86712400-86718000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:86712800-86719400	Weak transcription	Right Atrium	heart
10	chr4:86713000-86718000	Weak transcription	Left Ventricle	heart
11	chr4:86713200-86717800	Weak transcription	Primary B cells from cord blood	blood
12	chr4:86713200-86717800	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:86713200-86718000	Weak transcription	Fetal Stomach	stomach
14	chr4:86713200-86726400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:86714600-86718800	Enhancers	HUVEC	blood vessel
16	chr4:86714800-86718000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:86714800-86718000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:86715200-86717600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:86715200-86718000	Weak transcription	Adipose Nuclei	Adipose
20	chr4:86715200-86719800	Weak transcription	Fetal Lung	lung
21	chr4:86715400-86717800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:86715600-86717600	Weak transcription	Osteobl	bone
23	chr4:86715600-86718000	Weak transcription	NH-A	brain
24	chr4:86716000-86717800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:86716000-86720000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:86716200-86717800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:86716400-86717800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:86716600-86718000	Weak transcription	NHLF	lung
29	chr4:86716800-86717200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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