Variant report

Variant	rs11607122
Chromosome Location	chr11:57389737-57389738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57107608..57110045-chr11:57388048..57390193,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10896631	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10896632	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10896633	1.00[JPT][hapmap]
rs11229063	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11229066	0.93[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11229067	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11229075	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11229077	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11229078	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11229080	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11570190	1.00[JPT][hapmap]
rs11603020	0.94[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11605731	1.00[JPT][hapmap]
rs11606677	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11606706	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11607056	1.00[JPT][hapmap]
rs11820040	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12804972	1.00[JPT][hapmap]
rs12805841	1.00[JPT][hapmap]
rs1647405	1.00[JPT][hapmap]
rs2081361	1.00[JPT][hapmap]
rs28362947	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28362948	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28362949	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28362950	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28362951	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2847308	1.00[JPT][hapmap]
rs34052104	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3824988	0.94[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4926	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs499188	1.00[JPT][hapmap]
rs576859	1.00[JPT][hapmap]
rs708228	1.00[JPT][hapmap]
rs7102271	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7117896	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs731384	1.00[JPT][hapmap];0.80[MEX][hapmap]
rs73480556	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73480560	0.80[AFR][1000 genomes]
rs9420	1.00[JPT][hapmap]

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11607122	OR8J1	cis	cerebellum	SCAN
rs11607122	DDB1	cis	cerebellum	SCAN
rs11607122	CD5	cis	parietal	SCAN
rs11607122	MED19	cis	cerebellum	SCAN
rs11607122	MS4A7	cis	cerebellum	SCAN
rs11607122	OR4D10	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57373800-57391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:57382000-57391800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:57382200-57395000	Weak transcription	Right Ventricle	heart
4	chr11:57382800-57392600	Weak transcription	Brain Germinal Matrix	brain
5	chr11:57383200-57390000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:57384400-57404800	Weak transcription	Fetal Lung	lung
7	chr11:57387000-57390000	Enhancers	Hela-S3	cervix
8	chr11:57387200-57392000	Weak transcription	Left Ventricle	heart
9	chr11:57387200-57398600	Strong transcription	Liver	Liver
10	chr11:57387600-57390200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:57387600-57390800	Weak transcription	Adipose Nuclei	Adipose
12	chr11:57387600-57393000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:57387600-57397600	Weak transcription	Aorta	Aorta
14	chr11:57387600-57405200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:57389200-57404400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:57389600-57390200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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