Variant report

Variant	rs2527040
Chromosome Location	chr7:83686148-83686149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11978893	0.96[CHD][hapmap]
rs13232278	0.82[TSI][hapmap]
rs13241380	0.92[CHB][hapmap]
rs1357813	0.92[JPT][hapmap]
rs2030679	0.92[CHB][hapmap]
rs2189849	0.84[MKK][hapmap]
rs2189850	0.82[AMR][1000 genomes]
rs2527030	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2527032	0.89[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2527039	0.92[JPT][hapmap];0.92[TSI][hapmap]
rs2691702	0.82[AMR][1000 genomes]
rs34450132	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3735513	0.96[CHD][hapmap]
rs3801598	0.84[CHB][hapmap]
rs3801599	0.92[CHD][hapmap]
rs3801603	0.92[CHB][hapmap];0.84[CHD][hapmap]
rs4355720	0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs6944512	0.96[CHD][hapmap]
rs7458431	0.81[AMR][1000 genomes]
rs7804122	0.96[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888625	chr7:83616528-83687622	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv888626	chr7:83651854-83698177	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888627	chr7:83659577-83708238	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888628	chr7:83659577-83722691	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2527040	ZNF500	trans	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83671800-83687400	Weak transcription	Fetal Intestine Large	intestine
2	chr7:83673200-83688200	Weak transcription	NHLF	lung
3	chr7:83673800-83687400	Weak transcription	NH-A	brain
4	chr7:83673800-83707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:83674600-83687600	Weak transcription	Fetal Lung	lung
6	chr7:83674600-83689600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:83675800-83688400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:83678800-83690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:83685000-83686800	Enhancers	Hela-S3	cervix
10	chr7:83685200-83686400	Enhancers	HMEC	breast
11	chr7:83685200-83686800	Enhancers	NHEK	skin
12	chr7:83685400-83686400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:83685400-83686600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:83685600-83686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:83685600-83686400	Enhancers	Stomach Mucosa	stomach
16	chr7:83685800-83686400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:83685800-83687800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:83685800-83688000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:83685800-83688400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:83685800-83689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:83685800-83689000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:83685800-83689600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:83685800-83690200	Weak transcription	NHDF-Ad	bronchial
24	chr7:83685800-83690400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:83685800-83691600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:83685800-83691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:83686000-83687200	Weak transcription	HepG2	liver
28	chr7:83686000-83687400	Weak transcription	A549	lung
29	chr7:83686000-83687600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:83686000-83688000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:83686000-83688000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:83686000-83691600	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links