Variant report

Variant	rs13253777
Chromosome Location	chr8:20071770-20071771
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:20071555-20071904	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:20070701-20072290	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20070858..20073934-chr8:20074904..20076955,3	K562	blood:

Variant related genes	Relation type
ATP6V1B2	TF binding region
ENSG00000147416	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10095373	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11204102	0.87[CEU][hapmap];0.84[JPT][hapmap]
rs11778205	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12335186	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1390943	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2410638	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4922139	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs974994	0.82[EUR][1000 genomes];0.88[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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13253777	IRF9	trans	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20056200-20072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:20061400-20081200	Strong transcription	Primary B cells from cord blood	blood
4	chr8:20061600-20074800	Strong transcription	Dnd41	blood
5	chr8:20061600-20085200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:20061600-20086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:20061800-20079000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:20061800-20079000	Strong transcription	HSMM	muscle
9	chr8:20061800-20079400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:20061800-20087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:20062000-20078200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:20062000-20079600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:20062000-20085000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:20062200-20084400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:20062400-20079200	Strong transcription	NH-A	brain
16	chr8:20062600-20072000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:20062600-20079800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr8:20063000-20087200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:20063200-20079400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:20063200-20086600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:20063600-20080000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:20063800-20076600	Strong transcription	Osteobl	bone
23	chr8:20063800-20079400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:20065400-20081200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:20065400-20081400	Strong transcription	Primary T cells from cord blood	blood
26	chr8:20065400-20081400	Strong transcription	NHEK	skin
27	chr8:20065600-20072000	Strong transcription	Ovary	ovary
28	chr8:20065600-20078400	Strong transcription	NHDF-Ad	bronchial
29	chr8:20065600-20079200	Strong transcription	Left Ventricle	heart
30	chr8:20065600-20086400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr8:20065800-20079400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:20065800-20079400	Strong transcription	Brain Anterior Caudate	brain
33	chr8:20065800-20080400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr8:20065800-20086000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:20066200-20074200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:20066200-20079400	Strong transcription	Esophagus	oesophagus
37	chr8:20066200-20081400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:20066400-20077800	Strong transcription	NHLF	lung
39	chr8:20066400-20078200	Strong transcription	Fetal Kidney	kidney
40	chr8:20066400-20078400	Strong transcription	Aorta	Aorta
41	chr8:20066400-20078800	Strong transcription	HSMMtube	muscle
42	chr8:20066400-20079400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:20066400-20079400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:20066400-20079800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr8:20066400-20079800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr8:20066400-20080000	Strong transcription	Thymus	Thymus
47	chr8:20066400-20080000	Strong transcription	K562	blood
48	chr8:20066400-20080200	Strong transcription	Placenta	Placenta
49	chr8:20066400-20080400	Strong transcription	Fetal Thymus	thymus
50	chr8:20066400-20080800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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