Variant report

Variant	rs7665209
Chromosome Location	chr4:48814687-48814688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48812606..48814980-chr4:48831883..48834846,2	K562	blood:
2	chr4:48814564..48816145-chr4:48829057..48831720,2	K562	blood:
3	chr4:48780448..48782528-chr4:48813359..48814953,2	K562	blood:

Variant related genes	Relation type
ENSG00000109180	Chromatin interaction
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10938537	0.81[YRI][hapmap]
rs11727343	0.87[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11729065	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11733534	0.85[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11734191	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11939889	0.82[EUR][1000 genomes]
rs11943219	0.83[EUR][1000 genomes]
rs12504699	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs12512637	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12641022	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13109500	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13119414	0.83[EUR][1000 genomes]
rs13141523	0.84[CEU][hapmap]
rs13141838	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13149083	0.87[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13152270	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1463367	0.86[MEX][hapmap]
rs1980193	0.83[EUR][1000 genomes]
rs2085292	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs2102397	0.80[MEX][hapmap]
rs2176460	0.89[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.83[EUR][1000 genomes]
rs2289065	0.87[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap]
rs2290516	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs2572345	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572350	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2712156	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2712157	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2712158	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712159	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2883562	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761729	0.87[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694904	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4694906	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4695400	0.82[EUR][1000 genomes]
rs4695401	0.83[EUR][1000 genomes]
rs4695407	0.81[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57797824	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62310934	0.83[ASN][1000 genomes]
rs6447655	0.81[EUR][1000 genomes]
rs6447666	0.86[GIH][hapmap]
rs6825639	0.82[AMR][1000 genomes]
rs6830078	0.83[EUR][1000 genomes]
rs6830848	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs6843340	0.81[ASW][hapmap];0.80[YRI][hapmap]
rs7654032	0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7657332	0.89[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.84[EUR][1000 genomes]
rs7657698	0.92[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs7680280	0.81[EUR][1000 genomes]
rs7681070	0.81[EUR][1000 genomes]
rs7687992	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7697522	0.89[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs776584	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs796555	0.89[CEU][hapmap];0.82[CHB][hapmap];0.81[GIH][hapmap]
rs9291326	0.82[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs937889	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs9637562	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9790336	0.80[EUR][1000 genomes]
rs9997920	0.82[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv916809	chr4:48784318-49083302	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv879010	chr4:48794403-49061141	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7665209	OCIAD2	cis	lymphoblastoid	seeQTL
rs7665209	OCIAD2	cis	cerebellum	SCAN
rs7665209	SLC10A4	cis	lung	GTEx
rs7665209	MGC45416	cis	multi-tissue	Pritchard
rs7665209	OCIAD1	Cis_1M	lymphoblastoid	RTeQTL
rs7665209	OCIAD1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48813200-48816000	Enhancers	GM12878-XiMat	blood
2	chr4:48814200-48815400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr4:48814400-48814800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:48814600-48814800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:48814600-48816200	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links