Variant report

Variant	rs1042426
Chromosome Location	chr8:20078643-20078644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20072689..20074502-chr8:20076708..20078934,2	MCF-7	breast:
2	chr8:20076331..20078897-chr8:20084632..20086626,2	K562	blood:
3	chr8:19698148..19700086-chr8:20077801..20079801,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17092154	0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17411988	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4335136	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73214061	0.82[AMR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1042426	IRF9	trans	cerebellum	SCAN
rs1042426	FLJ14107	cis	parietal	SCAN
rs1042426	PDLIM2	cis	cerebellum	SCAN
rs1042426	ATP6V1B2	cis	multi-tissue	Pritchard
rs1042426	ATP6V1B2	cis	Liver	GTEx

Chromatin state (count:126 , 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	chr8:20061400-20081200	Strong transcription	Primary B cells from cord blood	blood
3	chr8:20061600-20085200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:20061600-20086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:20061800-20079000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:20061800-20079000	Strong transcription	HSMM	muscle
7	chr8:20061800-20079400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:20061800-20087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:20062000-20079600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:20062000-20085000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:20062200-20084400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:20062400-20079200	Strong transcription	NH-A	brain
13	chr8:20062600-20079800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr8:20063000-20087200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:20063200-20079400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:20063200-20086600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:20063600-20080000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:20063800-20079400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:20065400-20081200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:20065400-20081400	Strong transcription	Primary T cells from cord blood	blood
21	chr8:20065400-20081400	Strong transcription	NHEK	skin
22	chr8:20065600-20079200	Strong transcription	Left Ventricle	heart
23	chr8:20065600-20086400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr8:20065800-20079400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:20065800-20079400	Strong transcription	Brain Anterior Caudate	brain
26	chr8:20065800-20080400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr8:20065800-20086000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:20066200-20079400	Strong transcription	Esophagus	oesophagus
29	chr8:20066200-20081400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:20066400-20078800	Strong transcription	HSMMtube	muscle
31	chr8:20066400-20079400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:20066400-20079400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:20066400-20079800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr8:20066400-20079800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr8:20066400-20080000	Strong transcription	Thymus	Thymus
36	chr8:20066400-20080000	Strong transcription	K562	blood
37	chr8:20066400-20080200	Strong transcription	Placenta	Placenta
38	chr8:20066400-20080400	Strong transcription	Fetal Thymus	thymus
39	chr8:20066400-20080800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:20066400-20081200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:20066400-20081400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr8:20066400-20081400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:20066400-20084200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:20066600-20078800	Strong transcription	Adipose Nuclei	Adipose
45	chr8:20066600-20078800	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:20066600-20079000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr8:20066600-20079200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:20066600-20079200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr8:20066600-20079200	Strong transcription	HUVEC	blood vessel
50	chr8:20066600-20079600	Strong transcription	H9 Cell Line	embryonic stem cell

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