Variant report

Variant	rs4518229
Chromosome Location	chr4:26842217-26842218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10470822	1.00[JPT][hapmap]
rs12648414	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648597	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28445387	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4133239	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4519791	0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4692128	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4692129	0.85[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6448478	0.84[MEX][hapmap]
rs6822297	0.84[JPT][hapmap]
rs6830323	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7672936	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs7678576	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7688788	0.85[CEU][hapmap];1.00[JPT][hapmap]

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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26839200-26843200	Enhancers	Fetal Heart	heart
2	chr4:26839600-26842400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:26839600-26842400	Enhancers	Fetal Muscle Leg	muscle
4	chr4:26840000-26842400	Enhancers	Fetal Lung	lung
5	chr4:26840000-26858800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:26840600-26844200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:26841000-26842800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:26841200-26843400	Enhancers	Thymus	Thymus
9	chr4:26841400-26845400	Weak transcription	Gastric	stomach
10	chr4:26841400-26858600	Weak transcription	Aorta	Aorta
11	chr4:26841600-26842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:26841600-26843600	Weak transcription	Right Atrium	heart
13	chr4:26841600-26858600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:26842000-26842400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr4:26842200-26842400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:26842200-26842400	Enhancers	Fetal Intestine Large	intestine
17	chr4:26842200-26843400	Enhancers	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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