Variant report

Variant	rs2091588
Chromosome Location	chr4:74534437-74534438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10012612	0.94[EUR][1000 genomes]
rs10023093	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030350	0.84[AFR][1000 genomes]
rs10032975	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074084	0.84[AFR][1000 genomes]
rs11733985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11735458	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247676	0.93[EUR][1000 genomes]
rs1247678	0.86[EUR][1000 genomes]
rs12648230	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs12650864	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28560041	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28825382	0.84[AFR][1000 genomes]
rs28831192	0.84[AFR][1000 genomes]
rs6833774	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7655717	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7665555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3347072	chr4:74531710-74537136	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74529000-74539200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74529200-74534600	Weak transcription	A549	lung
3	chr4:74529200-74534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:74530600-74535600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:74530600-74540200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:74534000-74534600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:74534200-74534800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr4:74534200-74536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:74534400-74534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:74534400-74534600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:74534400-74534600	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:74534400-74534600	Active TSS	HSMMtube	muscle
13	chr4:74534400-74534600	Flanking Active TSS	NHDF-Ad	bronchial
14	chr4:74534400-74534800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:74534400-74535000	Flanking Active TSS	HSMM	muscle
16	chr4:74534400-74535200	Enhancers	Osteobl	bone
17	chr4:74534400-74535600	Active TSS	Stomach Smooth Muscle	stomach
18	chr4:74534400-74535800	Enhancers	Fetal Brain Female	brain
19	chr4:74534400-74536200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:74534400-74536200	Enhancers	Fetal Muscle Leg	muscle
21	chr4:74534400-74536600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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