Variant report

Variant	rs4871380
Chromosome Location	chr8:124470884-124470885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124428737..124430239-chr8:124470680..124472845,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10091979	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10106648	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10106777	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10110934	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956133	0.81[ASN][1000 genomes]
rs10956134	0.81[ASN][1000 genomes]
rs10956135	0.81[ASN][1000 genomes]
rs11780128	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12235062	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12541494	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12545841	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547262	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675771	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13250937	0.81[ASN][1000 genomes]
rs13273789	0.83[ASN][1000 genomes]
rs13278697	0.81[ASN][1000 genomes]
rs1967032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28471679	0.83[ASN][1000 genomes]
rs28485832	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28570131	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28633322	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34345458	0.81[ASN][1000 genomes]
rs3779986	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779988	0.81[ASN][1000 genomes]
rs3824252	0.94[ASN][1000 genomes]
rs3824254	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3905739	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4870853	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871363	0.85[EUR][1000 genomes]
rs4871378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55766597	0.86[EUR][1000 genomes]
rs57128794	0.81[EUR][1000 genomes]
rs6470153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6982267	0.81[ASN][1000 genomes]
rs6993896	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6994095	0.82[ASN][1000 genomes]
rs6994481	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7001767	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7012822	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7341643	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7825101	0.81[ASN][1000 genomes]
rs7825449	0.81[ASN][1000 genomes]
rs7825955	0.81[ASN][1000 genomes]
rs7827492	0.95[ASN][1000 genomes]
rs7843891	0.81[ASN][1000 genomes]
rs9969567	0.83[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	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4871380	WDYHV1	cis	Skin Sun Exposed Lower leg	GTEx
rs4871380	WDYHV1	cis	Heart Left Ventricle	GTEx
rs4871380	WDYHV1	cis	Muscle Skeletal	GTEx
rs4871380	C8orf32	Cis_1M	lymphoblastoid	RTeQTL
rs4871380	WDYHV1	cis	lung	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430200-124472800	Weak transcription	Colonic Mucosa	Colon
2	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
3	chr8:124449600-124490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:124451400-124489400	Weak transcription	Spleen	Spleen
5	chr8:124454000-124472800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:124454000-124478400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:124454000-124489400	Weak transcription	Gastric	stomach
8	chr8:124454400-124478200	Weak transcription	HSMM	muscle
9	chr8:124454400-124478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:124454400-124478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:124454600-124477200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:124454600-124489000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:124454600-124489200	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:124456200-124472400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:124459000-124472400	Weak transcription	HUVEC	blood vessel
16	chr8:124459200-124472200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:124459200-124473200	Weak transcription	HepG2	liver
18	chr8:124459200-124473800	Weak transcription	Primary B cells from cord blood	blood
19	chr8:124460400-124472800	Weak transcription	Fetal Intestine Large	intestine
20	chr8:124460400-124472800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:124460400-124473000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:124460400-124478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:124461200-124490200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:124461400-124476600	Weak transcription	Lung	lung
25	chr8:124461400-124478200	Weak transcription	Aorta	Aorta
26	chr8:124461400-124482200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:124461600-124472200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:124461600-124477600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:124461600-124486400	Weak transcription	A549	lung
30	chr8:124463400-124472000	Weak transcription	Fetal Thymus	thymus
31	chr8:124464000-124478200	Weak transcription	Ovary	ovary
32	chr8:124464200-124477600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:124464200-124478200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:124464200-124478400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:124464400-124478400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:124464400-124483400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:124465600-124488800	Weak transcription	Primary T cells from cord blood	blood
38	chr8:124466400-124472200	Weak transcription	Pancreas	Pancrea
39	chr8:124466400-124474800	Weak transcription	Fetal Heart	heart
40	chr8:124466600-124477600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:124467200-124473200	Weak transcription	Left Ventricle	heart
42	chr8:124467600-124473000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:124467600-124478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:124468400-124473200	Weak transcription	Esophagus	oesophagus
45	chr8:124468400-124476600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:124468600-124473200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:124468600-124478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:124468800-124472400	Weak transcription	NHLF	lung
49	chr8:124468800-124472600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:124468800-124481000	Weak transcription	NHEK	skin

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