Variant report

Variant	rs324066
Chromosome Location	chr5:40916665-40916666
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10067114	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10071209	0.97[ASN][1000 genomes]
rs10472345	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1063499	0.91[EUR][1000 genomes]
rs1376178	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376180	0.92[EUR][1000 genomes]
rs1376181	0.92[EUR][1000 genomes]
rs1450656	0.81[EUR][1000 genomes]
rs1450657	0.81[EUR][1000 genomes]
rs1697938	0.81[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1901165	0.81[EUR][1000 genomes]
rs1901166	0.90[EUR][1000 genomes]
rs2122569	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2250856	0.92[EUR][1000 genomes]
rs2443035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443040	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2455301	0.92[EUR][1000 genomes]
rs2455302	0.93[EUR][1000 genomes]
rs2455309	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2455311	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2455312	0.92[EUR][1000 genomes]
rs2455314	0.92[EUR][1000 genomes]
rs2459463	0.92[EUR][1000 genomes]
rs2459464	0.81[EUR][1000 genomes]
rs2459465	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2459467	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2597738	0.92[EUR][1000 genomes]
rs2597739	0.92[EUR][1000 genomes]
rs2597746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs323565	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs324063	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324067	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs324068	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs324072	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35642126	0.92[EUR][1000 genomes]
rs364443	0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs420220	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs438652	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6861054	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6876739	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6887212	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895963	0.92[EUR][1000 genomes]
rs837383	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs324066	DAB2	cis	cerebellum	SCAN
rs324066	OXCT1	cis	cerebellum	SCAN
rs324066	RPL37	Cis_1M	lymphoblastoid	RTeQTL
rs324066	C5orf34	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40909200-40916800	Active TSS	Right Atrium	heart
2	chr5:40915000-40916800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:40915000-40916800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:40915200-40916800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:40915400-40918000	Weak transcription	Fetal Lung	lung
6	chr5:40915400-40920800	Weak transcription	Left Ventricle	heart
7	chr5:40915800-40916800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:40915800-40916800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:40916000-40919400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:40916000-40924400	Weak transcription	Ovary	ovary
11	chr5:40916200-40916800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:40916600-40916800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:40916600-40916800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:40916600-40917600	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links