Variant report

Variant	rs11570058
Chromosome Location	chr11:47369443-47369444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47358646..47361164-chr11:47367434..47369849,2	MCF-7	breast:
2	chr11:47289586..47293263-chr11:47367721..47372690,6	MCF-7	breast:
3	chr11:47369216..47372065-chr11:47378496..47380430,2	K562	blood:
4	chr11:47367659..47370782-chr11:47372358..47376235,4	K562	blood:
5	chr11:47362842..47365902-chr11:47366345..47370723,5	K562	blood:
6	chr11:47363652..47368436-chr11:47368498..47371185,5	K562	blood:
7	chr11:47368613..47373799-chr11:47374584..47376990,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110514	Chromatin interaction
ENSG00000134571	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11570067	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11570072	0.92[AMR][1000 genomes]
rs11570078	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12285933	0.91[CEU][hapmap]
rs12573962	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17726706	0.91[CEU][hapmap]
rs17726787	0.91[CEU][hapmap]
rs3729989	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3736101	0.91[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[AFR][1000 genomes]
rs3816724	0.91[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs41301449	0.85[AFR][1000 genomes]
rs41304347	0.93[AFR][1000 genomes]
rs41310332	0.93[AFR][1000 genomes]
rs45489595	0.93[AFR][1000 genomes]
rs4647736	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs4647759	0.85[AFR][1000 genomes]
rs61896051	0.93[AFR][1000 genomes]
rs61896054	0.93[AFR][1000 genomes]
rs61897361	0.93[AFR][1000 genomes]
rs61897389	0.83[AMR][1000 genomes]
rs7102372	0.91[CEU][hapmap]
rs7112154	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats 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 miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11570058	MDK	cis	parietal	SCAN
rs11570058	DGKZ	cis	cerebellum	SCAN
rs11570058	ATG13	cis	parietal	SCAN
rs11570058	MADD	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47343200-47370600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47351400-47375600	Weak transcription	Primary B cells from cord blood	blood
3	chr11:47353600-47375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:47354000-47369800	Weak transcription	Right Atrium	heart
5	chr11:47354800-47372800	Weak transcription	Gastric	stomach
6	chr11:47364000-47370600	Enhancers	Fetal Heart	heart
7	chr11:47364000-47372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:47364600-47370600	Weak transcription	Spleen	Spleen
9	chr11:47367200-47372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:47367400-47369800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:47367800-47377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:47368600-47374800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:47368800-47369800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:47369000-47370200	Transcr. at gene 5' and 3'	Left Ventricle	heart
15	chr11:47369000-47371200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:47369200-47370200	Transcr. at gene 5' and 3'	Right Ventricle	heart
17	chr11:47369400-47369600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links