Variant report

Variant	rs729016
Chromosome Location	chr8:54853705-54853706
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:54853132-54853781	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:54853537-54853718	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RGS20	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16919692	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816772	0.98[EUR][1000 genomes]
rs7824575	0.90[MKK][hapmap]
rs9298496	0.96[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54845000-54857600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:54847800-54855600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:54850000-54857400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:54850400-54856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:54851000-54856000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:54851200-54854000	ZNF genes & repeats	HMEC	breast
7	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
8	chr8:54851400-54853800	ZNF genes & repeats	NHEK	skin
9	chr8:54851400-54855000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:54851600-54854000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:54851600-54854400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:54851600-54855400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:54852000-54853800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:54852200-54853800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:54852200-54872600	Weak transcription	Fetal Brain Female	brain
16	chr8:54852400-54854000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:54852400-54854000	Strong transcription	A549	lung
18	chr8:54852400-54872600	Weak transcription	Esophagus	oesophagus
19	chr8:54852600-54856200	Weak transcription	NHDF-Ad	bronchial
20	chr8:54852800-54853800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:54853000-54853800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:54853000-54853800	Strong transcription	NHLF	lung
23	chr8:54853200-54853800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:54853200-54853800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:54853200-54856800	Weak transcription	HUVEC	blood vessel
26	chr8:54853400-54853800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:54853400-54855600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:54853400-54857600	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:54853600-54853800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:54853600-54854400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:54853600-54857600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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