Variant report

Variant	rs1390943
Chromosome Location	chr8:20081890-20081891
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20080349..20082328-chr8:20233127..20234370,21	MCF-7	breast:
2	chr8:20081034..20081913-chr8:20233476..20234485,8	MCF-7	breast:
3	chr8:20074199..20078908-chr8:20079233..20083576,5	K562	blood:
4	chr8:20080921..20082306-chr8:20233354..20234450,5	K562	blood:
5	chr8:20081555..20083194-chr8:20086240..20088366,2	K562	blood:

Variant related genes	Relation type
ENSG00000147416	Chromatin interaction
ENSG00000222267	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10095373	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204102	0.87[CEU][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap]
rs11778205	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12335186	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13253777	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	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4922139	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs974994	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[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

Variant related diseases (count:1)

Disease	PMID	Source
Circulating myeloperoxidase levels (serum)	23620142	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1390943	IRF9	trans	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:20061600-20085200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:20061600-20086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:20061800-20087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:20062000-20085000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:20062200-20084400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:20063000-20087200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:20063200-20086600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:20065600-20086400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr8:20065800-20086000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:20066400-20084200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:20066600-20084400	Strong transcription	Brain Germinal Matrix	brain
13	chr8:20066600-20086200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:20066600-20086200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:20067800-20089400	Weak transcription	Stomach Mucosa	stomach
16	chr8:20068000-20087200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:20071800-20086400	Strong transcription	Fetal Intestine Large	intestine
18	chr8:20074200-20088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:20075600-20084200	Strong transcription	Fetal Stomach	stomach
20	chr8:20075800-20084600	Strong transcription	Fetal Intestine Small	intestine
21	chr8:20076400-20089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:20076400-20090800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:20077200-20086400	Strong transcription	Liver	Liver
24	chr8:20078000-20083000	Weak transcription	Small Intestine	intestine
25	chr8:20078000-20083800	Strong transcription	Pancreas	Pancrea
26	chr8:20078400-20089400	Weak transcription	Colonic Mucosa	Colon
27	chr8:20078600-20086400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:20078800-20089600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:20079000-20082200	Genic enhancers	HSMM	muscle
30	chr8:20079400-20089400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:20079400-20093800	Weak transcription	Right Ventricle	heart
32	chr8:20079600-20082000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:20079600-20082400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:20079600-20082800	Weak transcription	Gastric	stomach
35	chr8:20079600-20083000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:20079600-20083000	Weak transcription	Esophagus	oesophagus
37	chr8:20079600-20083000	Weak transcription	Psoas Muscle	Psoas
38	chr8:20079600-20087200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:20079600-20089000	Weak transcription	Fetal Brain Male	brain
40	chr8:20079600-20089200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:20079800-20082000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:20079800-20082000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:20079800-20083200	Weak transcription	HMEC	breast
44	chr8:20079800-20089200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:20080000-20083000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:20080000-20084600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:20080200-20082000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:20080200-20082000	Enhancers	Colon Smooth Muscle	Colon
49	chr8:20080200-20083800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr8:20080400-20082200	Weak transcription	Rectal Mucosa Donor 29	rectum

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