Variant report

Variant	rs6747766
Chromosome Location	chr2:183364350-183364351
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10931017	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931020	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931022	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621579	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1347732	1.00[JPT][hapmap]
rs1430146	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430149	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560375	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1594306	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1595445	1.00[JPT][hapmap]
rs1595448	1.00[JPT][hapmap]
rs1595449	1.00[JPT][hapmap]
rs1595450	1.00[JPT][hapmap]
rs16823158	1.00[JPT][hapmap]
rs16823179	1.00[JPT][hapmap]
rs16823201	1.00[JPT][hapmap]
rs16823203	1.00[JPT][hapmap]
rs16823207	1.00[JPT][hapmap]
rs16823222	1.00[JPT][hapmap]
rs16823227	1.00[JPT][hapmap]
rs16823234	1.00[JPT][hapmap]
rs16823236	1.00[JPT][hapmap]
rs16823243	1.00[JPT][hapmap]
rs1835340	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082135	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368294	1.00[JPT][hapmap]
rs2368295	1.00[JPT][hapmap]
rs2368300	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368301	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs2368302	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2448980	1.00[JPT][hapmap]
rs2577649	1.00[JPT][hapmap]
rs2577660	1.00[JPT][hapmap]
rs2623409	1.00[JPT][hapmap]
rs2623410	1.00[JPT][hapmap]
rs2623430	1.00[JPT][hapmap]
rs2623432	1.00[JPT][hapmap]
rs2623436	1.00[JPT][hapmap]
rs4666845	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4666850	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433976	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760317	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720245	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557419	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7595111	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597921	1.00[CHB][hapmap]
rs833120	1.00[JPT][hapmap]
rs833122	1.00[JPT][hapmap]
rs833123	1.00[JPT][hapmap]
rs934260	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934261	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6747766	PDE1A	cis	Brain Pons	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183355000-183364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:183361600-183364400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:183361600-183392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:183362200-183364400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:183362200-183364400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:183362200-183364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:183362200-183365800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:183364200-183364800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:183364200-183365600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:183364200-183366000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:183364200-183366000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:183364200-183366200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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