Variant report

Variant	rs9376479
Chromosome Location	chr6:140205618-140205619
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	chr6:140199686..140202479-chr6:140203984..140206544,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10457036	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10457699	1.00[JPT][hapmap]
rs10457701	0.90[ASN][1000 genomes]
rs10457702	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11155092	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155093	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155094	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754775	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193363	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193742	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194624	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194665	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198042	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198595	0.90[ASN][1000 genomes]
rs12198639	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198642	0.81[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs12202850	0.90[ASN][1000 genomes]
rs12204229	0.87[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	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210493	0.90[ASN][1000 genomes]
rs12212554	0.90[ASN][1000 genomes]
rs12214000	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214369	0.91[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12214414	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215417	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216315	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516775	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2024678	1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064502	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34059065	0.90[ASN][1000 genomes]
rs72986764	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986775	0.90[ASN][1000 genomes]
rs9373254	0.82[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs9484322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9495596	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[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
rs9376479	IL22RA2	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140201000-140206400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:140201800-140206400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:140202000-140209000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:140202000-140209600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:140202200-140206400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:140202400-140206000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:140202400-140206400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:140202400-140211800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:140202600-140205800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:140202600-140206400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:140203000-140205800	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:140203000-140207400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:140203200-140207000	Enhancers	Primary B cells from cord blood	blood
14	chr6:140203200-140209000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:140203400-140207000	Weak transcription	Spleen	Spleen
16	chr6:140203400-140212600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:140203600-140209400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:140203600-140211000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:140203800-140206000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:140203800-140206000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:140203800-140206000	Enhancers	NHLF	lung
22	chr6:140203800-140206200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:140203800-140209800	Weak transcription	Left Ventricle	heart
24	chr6:140204200-140207600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:140204400-140209400	Weak transcription	Fetal Lung	lung
26	chr6:140204600-140206200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:140204600-140206800	Weak transcription	Fetal Intestine Large	intestine
28	chr6:140204600-140209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:140204600-140209800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:140204600-140209800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:140204600-140210000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:140204600-140213200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:140204800-140205800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:140204800-140205800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:140204800-140205800	Weak transcription	Right Atrium	heart
36	chr6:140204800-140207000	Weak transcription	Fetal Intestine Small	intestine
37	chr6:140204800-140209800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:140204800-140209800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:140204800-140209800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:140204800-140209800	Weak transcription	Fetal Kidney	kidney
41	chr6:140204800-140209800	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:140204800-140209800	Weak transcription	Placenta	Placenta
43	chr6:140204800-140209800	Weak transcription	Fetal Stomach	stomach
44	chr6:140204800-140209800	Weak transcription	Ovary	ovary
45	chr6:140204800-140209800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:140204800-140210200	Weak transcription	K562	blood
47	chr6:140205000-140205800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:140205000-140208200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr6:140205000-140209800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:140205000-140209800	Weak transcription	HSMMtube	muscle

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