Variant report

Variant	rs4641304
Chromosome Location	chr1:156342917-156342918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11585330	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11586833	0.86[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11587027	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3790462	0.81[CEU][hapmap]
rs3806410	0.85[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4661039	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55745020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690897	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs954916	0.81[CEU][hapmap]

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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	380 gene(s)	inside rSNPs	diseases
3	nsv915822	chr1:156226286-156651655	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
4	nsv872471	chr1:156287360-156356480	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv470742	chr1:156335111-156354367	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1793632	chr1:156338992-156366178	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4641304	RHBG	trans	multi-tissue	Pritchard
rs4641304	RHBG	cis	Liver	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156339600-156358000	Weak transcription	Right Atrium	heart
2	chr1:156339800-156343800	Weak transcription	Right Ventricle	heart
3	chr1:156340000-156343000	Enhancers	Fetal Intestine Small	intestine
4	chr1:156340200-156344400	Enhancers	Ovary	ovary
5	chr1:156340400-156343000	Flanking Active TSS	HepG2	liver
6	chr1:156341000-156344200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:156342000-156343600	Weak transcription	A549	lung
8	chr1:156342000-156344200	Enhancers	Fetal Intestine Large	intestine
9	chr1:156342000-156346200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:156342000-156348000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:156342200-156345600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:156342200-156346800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:156342400-156343800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:156342400-156345000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:156342600-156345000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:156342800-156344000	Enhancers	Pancreas	Pancrea

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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