Variant report

Variant	rs1361248
Chromosome Location	chr6:140295358-140295359
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	chr6:139696942..139698780-chr6:140294038..140296688,2	K562	blood:
2	chr6:140289417..140292711-chr6:140293441..140296166,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1102076	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1416288	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs188002	0.81[YRI][hapmap]
rs201281	0.83[YRI][hapmap]
rs4895579	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs594560	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs603321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs623233	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs623331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs642858	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs644467	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs646695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs646747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs674672	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6933684	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321762	0.83[YRI][hapmap]
rs9376483	0.93[EUR][1000 genomes]
rs9376484	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9403133	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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
rs1361248	IL22RA2	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140287800-140299000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:140289600-140297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:140291600-140302000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:140292600-140297000	Weak transcription	Placenta	Placenta
5	chr6:140292600-140306000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:140294200-140296400	Enhancers	Fetal Lung	lung
7	chr6:140294200-140296600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:140294200-140299400	Enhancers	Fetal Heart	heart
9	chr6:140294400-140296400	Enhancers	Osteobl	bone
10	chr6:140294600-140295600	Enhancers	NHLF	lung
11	chr6:140294600-140296400	Enhancers	Hela-S3	cervix
12	chr6:140294800-140295400	Enhancers	Fetal Stomach	stomach
13	chr6:140294800-140295400	Enhancers	A549	lung
14	chr6:140294800-140295400	Enhancers	NHDF-Ad	bronchial
15	chr6:140294800-140295600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:140294800-140295600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:140294800-140295600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:140294800-140295600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:140294800-140295600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:140294800-140295600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:140294800-140295600	Active TSS	Right Atrium	heart
22	chr6:140294800-140295800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:140294800-140295800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:140294800-140295800	Enhancers	HUVEC	blood vessel
25	chr6:140294800-140295800	Enhancers	NH-A	brain
26	chr6:140295000-140295400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:140295000-140295400	Enhancers	Fetal Kidney	kidney
28	chr6:140295000-140295400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:140295000-140295400	Enhancers	HSMMtube	muscle
30	chr6:140295000-140295400	Flanking Active TSS	K562	blood
31	chr6:140295000-140295600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:140295000-140295800	Enhancers	Rectal Smooth Muscle	rectum
33	chr6:140295000-140295800	Enhancers	HSMM	muscle
34	chr6:140295200-140295400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:140295200-140295400	Enhancers	Adipose Nuclei	Adipose
36	chr6:140295200-140295400	Enhancers	Aorta	Aorta
37	chr6:140295200-140295400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr6:140295200-140295400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr6:140295200-140296600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:140295200-140299000	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:140295200-140303000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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