Variant report

Variant	rs3807127
Chromosome Location	chr7:128355458-128355459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17162583	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4728127	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4731495	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731512	0.89[MEX][hapmap]
rs57056869	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57271522	0.80[EUR][1000 genomes]
rs59157993	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs930683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3807127	IMPDH1	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:128354000-128355600	Enhancers	HUVEC	blood vessel
6	chr7:128354600-128356200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:128354800-128355600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:128354800-128356000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:128355000-128356400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:128355400-128356800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

Quick Search:

Input of quick search could be:

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

what's new

Quick links