Variant report

Variant	rs28570131
Chromosome Location	chr8:124476022-124476023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124473077..124476850-chr8:124483961..124486847,3	MCF-7	breast:
2	chr8:124473789..124476766-chr8:124479348..124481867,2	K562	blood:
3	chr8:124428000..124431810-chr8:124475792..124478285,3	K562	blood:
4	chr8:124474442..124476967-chr8:124689689..124692610,2	MCF-7	breast:
5	chr8:124474211..124477971-chr8:124779164..124781090,3	MCF-7	breast:
6	chr8:124466315..124468864-chr8:124475484..124478441,2	MCF-7	breast:
7	chr8:124475174..124476679-chr8:124774603..124776298,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156802	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10106648	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10106777	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10110934	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11780128	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12235062	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12541494	0.88[EUR][1000 genomes]
rs12545841	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12547262	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12675771	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1967032	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28485832	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28633322	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3779986	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3824254	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4870853	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4871378	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4871380	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470153	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6993896	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6994481	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7001767	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7012822	0.88[EUR][1000 genomes]
rs7341643	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs28570131	WDYHV1	cis	Skin Sun Exposed Lower leg	GTEx
rs28570131	C8orf32	Cis_1M	lymphoblastoid	RTeQTL
rs28570131	WDYHV1	cis	lung	GTEx
rs28570131	WDYHV1	cis	Muscle Skeletal	GTEx
rs28570131	WDYHV1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
2	chr8:124449600-124490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:124451400-124489400	Weak transcription	Spleen	Spleen
4	chr8:124454000-124478400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:124454000-124489400	Weak transcription	Gastric	stomach
6	chr8:124454400-124478200	Weak transcription	HSMM	muscle
7	chr8:124454400-124478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:124454400-124478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:124454600-124477200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:124454600-124489000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:124454600-124489200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:124460400-124478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:124461200-124490200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:124461400-124476600	Weak transcription	Lung	lung
15	chr8:124461400-124478200	Weak transcription	Aorta	Aorta
16	chr8:124461400-124482200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:124461600-124477600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:124461600-124486400	Weak transcription	A549	lung
19	chr8:124464000-124478200	Weak transcription	Ovary	ovary
20	chr8:124464200-124477600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:124464200-124478200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:124464200-124478400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:124464400-124478400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:124464400-124483400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:124465600-124488800	Weak transcription	Primary T cells from cord blood	blood
26	chr8:124466600-124477600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:124467600-124478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:124468400-124476600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:124468600-124478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:124468800-124481000	Weak transcription	NHEK	skin
31	chr8:124469000-124478200	Weak transcription	Adipose Nuclei	Adipose
32	chr8:124469000-124488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:124469200-124488000	Weak transcription	Dnd41	blood
34	chr8:124472400-124477000	Enhancers	HUVEC	blood vessel
35	chr8:124472800-124477600	Weak transcription	NHDF-Ad	bronchial
36	chr8:124472800-124478200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:124472800-124478600	Weak transcription	Fetal Lung	lung
38	chr8:124473000-124478200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:124473000-124478200	Weak transcription	NHLF	lung
40	chr8:124473000-124478200	Weak transcription	Osteobl	bone
41	chr8:124473600-124478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:124473600-124478200	Weak transcription	Left Ventricle	heart
43	chr8:124473600-124480600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:124473600-124481400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:124473800-124476800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:124474200-124483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:124474200-124489000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:124475000-124480400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:124475200-124477400	Weak transcription	Fetal Heart	heart
50	chr8:124475200-124478600	Weak transcription	Brain Anterior Caudate	brain

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