Variant report

Variant	rs4421208
Chromosome Location	chr6:140079639-140079640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139695355..139697861-chr6:140078770..140081138,4	MCF-7	breast:
2	chr6:140073591..140076485-chr6:140078256..140081113,2	MCF-7	breast:
3	chr6:140077496..140081190-chr6:140083108..140086275,5	K562	blood:
4	chr6:140067390..140069784-chr6:140078728..140080406,2	K562	blood:
5	chr6:140078058..140080357-chr6:140080533..140082586,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10782270	0.85[JPT][hapmap]
rs1936212	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1936213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936215	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301318	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6570371	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6912263	0.92[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs6918560	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7739545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742530	0.85[EUR][1000 genomes]
rs7761087	0.87[EUR][1000 genomes]
rs7761526	0.88[EUR][1000 genomes]
rs7762375	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs9321751	0.89[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs9376449	0.85[EUR][1000 genomes]
rs9376459	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389712	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs9389713	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9403105	0.85[JPT][hapmap]
rs9403108	0.88[AMR][1000 genomes];0.90[EUR][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	nsv464065	chr6:140027836-140085873	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604766	chr6:140027836-140085873	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4421208	IL22RA2	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140070200-140085200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:140073000-140089400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:140075000-140083200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:140075000-140085400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:140075200-140083800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:140075600-140081200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:140076000-140085200	Weak transcription	Left Ventricle	heart
8	chr6:140076400-140081800	Weak transcription	Right Atrium	heart
9	chr6:140076400-140082200	Weak transcription	K562	blood
10	chr6:140076400-140085000	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:140076400-140085200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:140076800-140081800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:140076800-140083200	Weak transcription	Fetal Lung	lung
14	chr6:140076800-140083400	Weak transcription	HSMMtube	muscle
15	chr6:140076800-140085000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:140076800-140085200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:140077000-140083400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:140077000-140085000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:140077000-140085800	Weak transcription	Fetal Kidney	kidney
20	chr6:140077200-140085000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:140077400-140081000	Weak transcription	Ovary	ovary
22	chr6:140077400-140085800	Weak transcription	Pancreas	Pancrea
23	chr6:140077800-140080000	Enhancers	HSMM	muscle
24	chr6:140078000-140082000	Enhancers	Adipose Nuclei	Adipose
25	chr6:140078200-140083600	Weak transcription	HUVEC	blood vessel
26	chr6:140078400-140079800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:140078600-140080800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:140078800-140079800	Enhancers	Colon Smooth Muscle	Colon
29	chr6:140078800-140079800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:140079000-140081800	Weak transcription	Psoas Muscle	Psoas
31	chr6:140079200-140079800	Enhancers	Liver	Liver
32	chr6:140079200-140080000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:140079200-140080000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:140079400-140079800	Enhancers	Aorta	Aorta
35	chr6:140079400-140079800	Enhancers	A549	lung
36	chr6:140079400-140083600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:140079400-140085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:140079600-140079800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:140079600-140079800	Enhancers	NHDF-Ad	bronchial
40	chr6:140079600-140080000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:140079600-140080000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:140079600-140080200	Enhancers	Osteobl	bone
43	chr6:140079600-140081000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr6:140079600-140081400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:140079600-140083200	Weak transcription	Fetal Heart	heart
46	chr6:140079600-140083200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:140079600-140083800	Weak transcription	NHLF	lung
48	chr6:140079600-140085000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:140079600-140085400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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