Variant report

Variant	rs11207332
Chromosome Location	chr1:59386267-59386268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59349723..59352146-chr1:59385066..59387723,2	K562	blood:
2	chr1:59368962..59371702-chr1:59384536..59386461,2	MCF-7	breast:
3	chr1:59245419..59251049-chr1:59381076..59386863,7	K562	blood:
4	chr1:59366023..59368709-chr1:59384060..59386406,2	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10493253	0.91[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11207323	0.91[CEU][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11207325	0.91[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs11207326	0.91[CEU][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11207329	0.85[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12117564	0.91[CEU][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12122077	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs12404569	0.87[EUR][1000 genomes]
rs12409909	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17118379	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17118404	0.93[YRI][hapmap]
rs17118446	0.82[LWK][hapmap];0.93[YRI][hapmap]
rs2716115	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2764915	0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2764917	0.87[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2953373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41287666	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6587841	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6658104	0.82[EUR][1000 genomes]
rs6661505	0.91[MEX][hapmap]
rs6664131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6677752	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6681632	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6697107	0.91[CEU][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74078024	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7528731	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11207332	OMA1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59369800-59388200	Weak transcription	Gastric	stomach
2	chr1:59379600-59387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:59381400-59387200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:59382800-59387000	Weak transcription	NHEK	skin
5	chr1:59383000-59386800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:59383800-59387600	Weak transcription	Right Atrium	heart
7	chr1:59385000-59388800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:59385200-59387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:59385200-59387600	Weak transcription	Esophagus	oesophagus
10	chr1:59385200-59388000	Weak transcription	Pancreas	Pancrea
11	chr1:59385200-59390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:59385200-59397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:59385400-59386800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:59385600-59388000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:59386000-59386400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:59386000-59387400	Enhancers	Primary neutrophils fromperipheralblood	blood

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