Variant report

Variant	rs7012822
Chromosome Location	chr8:124430463-124430464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:124427524-124430634	HepG2	liver:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124429815..124432313-chr8:124778028..124780178,2	K562	blood:
2	chr8:124283829..124288838-chr8:124426117..124430573,9	K562	blood:
3	chr8:124285038..124289042-chr8:124427512..124430569,10	MCF-7	breast:
4	chr8:124429705..124433349-chr8:124436919..124438611,3	K562	blood:
5	chr8:124406056..124410111-chr8:124427174..124433258,8	MCF-7	breast:
6	chr8:124253290..124255259-chr8:124427452..124430915,4	MCF-7	breast:
7	chr8:124287117..124289356-chr8:124428879..124431490,3	MCF-7	breast:
8	chr8:124406688..124410730-chr8:124426992..124430866,9	K562	blood:
9	chr8:124404505..124411576-chr8:124423647..124430734,19	MCF-7	breast:
10	chr8:124430051..124432680-chr8:124438774..124442383,3	K562	blood:
11	chr8:124428663..124430757-chr8:124778757..124780951,2	K562	blood:
12	chr8:124405499..124410730-chr8:124426606..124431705,19	K562	blood:
13	chr8:124427319..124431344-chr8:124440107..124444172,5	MCF-7	breast:
14	chr1:108743710..108745219-chr8:124429078..124431227,2	MCF-7	breast:
15	chr8:124427993..124430634-chr8:124780278..124783215,3	MCF-7	breast:

No data

Variant related genes	Relation type
ATAD2	TF binding region
ENSG00000189376	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10091979	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10106648	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10106777	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10110934	0.91[EUR][1000 genomes]
rs11780128	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12235062	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12541494	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545841	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12547262	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12675771	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1967032	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28485832	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28570131	0.88[EUR][1000 genomes]
rs28633322	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3779986	0.91[EUR][1000 genomes]
rs3824254	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3905739	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4870853	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4871363	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4871378	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4871380	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55766597	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57128794	0.81[EUR][1000 genomes]
rs6470153	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6993896	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6994481	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7001767	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7341643	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3415547	chr8:124420820-124444289	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7012822	WDYHV1	cis	Heart Left Ventricle	GTEx
rs7012822	WDYHV1	cis	lung	GTEx
rs7012822	C8orf32	Cis_1M	lymphoblastoid	RTeQTL
rs7012822	WDYHV1	cis	Muscle Skeletal	GTEx
rs7012822	WDYHV1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124429800-124430600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr8:124429800-124430600	Flanking Active TSS	HepG2	liver
3	chr8:124429800-124431000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:124429800-124440800	Weak transcription	Aorta	Aorta
5	chr8:124430000-124430600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:124430000-124430600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr8:124430000-124430600	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:124430000-124430600	Enhancers	Fetal Thymus	thymus
9	chr8:124430000-124430800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:124430000-124431000	Weak transcription	Right Atrium	heart
11	chr8:124430000-124431200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:124430000-124431200	Enhancers	Brain Substantia Nigra	brain
13	chr8:124430000-124431200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:124430000-124431800	Enhancers	Brain Cingulate Gyrus	brain
15	chr8:124430000-124440400	Weak transcription	Fetal Stomach	stomach
16	chr8:124430000-124440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:124430000-124440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:124430000-124440800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:124430000-124440800	Weak transcription	Left Ventricle	heart
20	chr8:124430000-124441000	Weak transcription	Lung	lung
21	chr8:124430000-124441400	Weak transcription	Primary B cells from cord blood	blood
22	chr8:124430000-124441600	Weak transcription	Thymus	Thymus
23	chr8:124430000-124443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:124430000-124443800	Weak transcription	Esophagus	oesophagus
25	chr8:124430000-124443800	Weak transcription	Right Ventricle	heart
26	chr8:124430000-124449200	Weak transcription	Small Intestine	intestine
27	chr8:124430000-124450200	Weak transcription	Brain Germinal Matrix	brain
28	chr8:124430200-124430600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:124430200-124430600	Enhancers	Brain Anterior Caudate	brain
30	chr8:124430200-124430800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:124430200-124431000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:124430200-124431000	Enhancers	Hela-S3	cervix
33	chr8:124430200-124431200	Enhancers	Fetal Heart	heart
34	chr8:124430200-124431400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:124430200-124432400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:124430200-124437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:124430200-124440600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:124430200-124440600	Weak transcription	Adipose Nuclei	Adipose
39	chr8:124430200-124440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:124430200-124441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:124430200-124441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:124430200-124441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:124430200-124441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:124430200-124441000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:124430200-124441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:124430200-124441200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:124430200-124441400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:124430200-124441400	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:124430200-124441400	Weak transcription	Placenta	Placenta
50	chr8:124430200-124441400	Weak transcription	Rectal Mucosa Donor 31	rectum

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