Variant report

Variant	rs3779986
Chromosome Location	chr8:124473038-124473039
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10091979	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10106648	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10106777	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10110934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10447969	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1045270	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1045284	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1045291	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs10505436	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10505437	0.86[JPT][hapmap]
rs11780128	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11786724	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11989576	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11991520	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12235062	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12541494	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12545841	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12547262	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12675771	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13265652	0.84[JPT][hapmap]
rs13265801	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs13269287	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs13272492	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs13273789	0.81[ASN][1000 genomes]
rs13278697	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs13278992	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1967032	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28471679	0.81[ASN][1000 genomes]
rs28485832	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28570131	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28633322	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3765211	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs3765212	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs3779984	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs3779988	0.85[ASN][1000 genomes]
rs3817716	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs3824250	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs3824251	0.81[JPT][hapmap]
rs3824252	0.98[ASN][1000 genomes]
rs3824253	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs3824254	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3824255	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs3905739	0.83[EUR][1000 genomes]
rs3955451	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4870853	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871363	0.83[EUR][1000 genomes]
rs4871378	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871380	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55766597	0.83[EUR][1000 genomes]
rs6415480	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs6470147	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs6470153	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6982267	0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6993896	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6994095	0.80[ASN][1000 genomes]
rs6994481	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6999234	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7001767	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7012822	0.91[EUR][1000 genomes]
rs7014678	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7341643	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7822061	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs7825449	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7825955	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7827492	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs9969567	0.81[ASN][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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs3779986	C8orf32	cis	multi-tissue	Pritchard
rs3779986	C8orf32	cis	normal skin	skin_eQTL
rs3779986	WDYHV1	cis	Muscle Skeletal	GTEx
rs3779986	WDYHV1	cis	Skin Sun Exposed Lower leg	GTEx
rs3779986	WDYHV1	cis	lung	GTEx
rs3779986	WDYHV1	cis	Lymphoblastoid	GTEx
rs3779986	WDYHV1	cis	Heart Left Ventricle	GTEx
rs3779986	C8orf32	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 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	chr8:124459200-124473200	Weak transcription	HepG2	liver
13	chr8:124459200-124473800	Weak transcription	Primary B cells from cord blood	blood
14	chr8:124460400-124478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:124461200-124490200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:124461400-124476600	Weak transcription	Lung	lung
17	chr8:124461400-124478200	Weak transcription	Aorta	Aorta
18	chr8:124461400-124482200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:124461600-124477600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:124461600-124486400	Weak transcription	A549	lung
21	chr8:124464000-124478200	Weak transcription	Ovary	ovary
22	chr8:124464200-124477600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:124464200-124478200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:124464200-124478400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:124464400-124478400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:124464400-124483400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:124465600-124488800	Weak transcription	Primary T cells from cord blood	blood
28	chr8:124466400-124474800	Weak transcription	Fetal Heart	heart
29	chr8:124466600-124477600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:124467200-124473200	Weak transcription	Left Ventricle	heart
31	chr8:124467600-124478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:124468400-124473200	Weak transcription	Esophagus	oesophagus
33	chr8:124468400-124476600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:124468600-124473200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:124468600-124478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:124468800-124481000	Weak transcription	NHEK	skin
37	chr8:124469000-124478200	Weak transcription	Adipose Nuclei	Adipose
38	chr8:124469000-124488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:124469200-124488000	Weak transcription	Dnd41	blood
40	chr8:124469400-124473400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:124469800-124473800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:124471800-124473200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:124472200-124473600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:124472200-124473600	Enhancers	Pancreas	Pancrea
45	chr8:124472200-124475400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:124472400-124474000	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:124472400-124475200	Enhancers	Fetal Intestine Small	intestine
48	chr8:124472400-124477000	Enhancers	HUVEC	blood vessel
49	chr8:124472800-124474000	Enhancers	Colonic Mucosa	Colon
50	chr8:124472800-124474400	Enhancers	Rectal Mucosa Donor 31	rectum

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