Variant report

Variant	rs7794231
Chromosome Location	chr7:128354509-128354510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10488627	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339072	0.83[ASN][1000 genomes]
rs339073	0.89[ASN][1000 genomes]
rs339092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7794231	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs7794231	RP11-274B21.10	cis	lung	GTEx

Chromatin state (count:14 , 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	chr7:128349000-128354800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:128351200-128355000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:128353000-128354800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:128353400-128355000	Enhancers	HMEC	breast
9	chr7:128353400-128355200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:128353400-128355200	Enhancers	NHEK	skin
11	chr7:128353600-128354800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:128354000-128355600	Enhancers	HUVEC	blood vessel
13	chr7:128354200-128354600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:128354200-128355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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