Variant report

Variant	rs11155093
Chromosome Location	chr6:140240324-140240325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:140239712..140241213-chr6:140248206..140250375,2	K562	blood:
2	chr6:140238724..140241294-chr6:140241796..140244314,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10457036	0.86[ASW][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.83[ASN][1000 genomes]
rs10457699	1.00[JPT][hapmap]
rs10457701	0.90[ASN][1000 genomes]
rs10457702	0.86[ASW][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.83[ASN][1000 genomes]
rs11155089	0.87[ASW][hapmap]
rs11155092	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155094	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752053	0.82[EUR][1000 genomes]
rs11754775	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193363	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193742	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194624	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194665	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198042	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198595	0.90[ASN][1000 genomes]
rs12198639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198642	0.86[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202850	0.90[ASN][1000 genomes]
rs12204229	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204306	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12205335	0.90[ASN][1000 genomes]
rs12207470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210493	0.90[ASN][1000 genomes]
rs12212554	0.90[ASN][1000 genomes]
rs12214000	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214369	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12214414	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216315	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs169291	0.90[ASN][1000 genomes]
rs17516775	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs2024678	1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064502	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34059065	0.90[ASN][1000 genomes]
rs4421208	0.93[MKK][hapmap]
rs72986764	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986775	0.90[ASN][1000 genomes]
rs9373254	0.86[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs9376479	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484322	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9495596	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11155093	IL22RA2	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140227000-140247600	Weak transcription	Small Intestine	intestine
2	chr6:140238600-140242400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:140238600-140242400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:140239000-140241000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:140239000-140241800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:140239000-140242200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:140239200-140240400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:140239200-140242200	Enhancers	K562	blood
9	chr6:140239200-140242400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:140239400-140240800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:140239600-140240400	Weak transcription	Placenta	Placenta
12	chr6:140239600-140240600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:140239600-140240600	Weak transcription	Brain Germinal Matrix	brain
14	chr6:140239600-140241200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:140239600-140241200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:140239600-140241200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:140239800-140240800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:140239800-140241000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:140239800-140241200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:140239800-140241200	Weak transcription	Fetal Lung	lung
21	chr6:140239800-140244800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:140239800-140246400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:140239800-140251600	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:140240000-140240400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:140240000-140248000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:140240200-140240600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:140240200-140240800	Enhancers	Primary B cells from cord blood	blood
28	chr6:140240200-140241600	Weak transcription	Fetal Brain Male	brain
29	chr6:140240200-140241800	Enhancers	Fetal Heart	heart

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