Variant report

Variant	rs12235062
Chromosome Location	chr8:124438015-124438016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124437876..124440344-chr8:124442670..124445450,2	MCF-7	breast:
2	chr8:124429705..124433349-chr8:124436919..124438611,3	K562	blood:
3	chr8:124435837..124438312-chr8:124449085..124450933,2	MCF-7	breast:
4	chr8:124437651..124439233-chr8:124489167..124492093,2	MCF-7	breast:
5	chr8:124437640..124439225-chr8:124442823..124444649,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10091979	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10106648	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10106777	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110934	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11780128	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541494	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12545841	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547262	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12675771	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13256668	0.80[ASN][1000 genomes]
rs13258309	0.80[ASN][1000 genomes]
rs13258475	0.80[ASN][1000 genomes]
rs13269269	0.80[ASN][1000 genomes]
rs13272492	0.80[ASN][1000 genomes]
rs13273196	0.80[ASN][1000 genomes]
rs13273416	0.80[ASN][1000 genomes]
rs1967032	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28485832	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28570131	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28633322	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3779986	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824252	0.83[ASN][1000 genomes]
rs3824254	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3905739	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4870853	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871363	0.85[EUR][1000 genomes]
rs4871378	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871380	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55766597	0.85[EUR][1000 genomes]
rs57082257	0.80[ASN][1000 genomes]
rs57128794	0.85[EUR][1000 genomes]
rs6470153	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6993896	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6994481	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7001767	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7012822	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7341643	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7827492	0.84[ASN][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
rs12235062	WDYHV1	cis	Skin Sun Exposed Lower leg	GTEx
rs12235062	WDYHV1	cis	lung	GTEx
rs12235062	C8orf32	Cis_1M	lymphoblastoid	RTeQTL
rs12235062	WDYHV1	cis	Muscle Skeletal	GTEx
rs12235062	WDYHV1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124429800-124440800	Weak transcription	Aorta	Aorta
2	chr8:124430000-124440400	Weak transcription	Fetal Stomach	stomach
3	chr8:124430000-124440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:124430000-124440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:124430000-124440800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:124430000-124440800	Weak transcription	Left Ventricle	heart
7	chr8:124430000-124441000	Weak transcription	Lung	lung
8	chr8:124430000-124441400	Weak transcription	Primary B cells from cord blood	blood
9	chr8:124430000-124441600	Weak transcription	Thymus	Thymus
10	chr8:124430000-124443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:124430000-124443800	Weak transcription	Esophagus	oesophagus
12	chr8:124430000-124443800	Weak transcription	Right Ventricle	heart
13	chr8:124430000-124449200	Weak transcription	Small Intestine	intestine
14	chr8:124430000-124450200	Weak transcription	Brain Germinal Matrix	brain
15	chr8:124430200-124440600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:124430200-124440600	Weak transcription	Adipose Nuclei	Adipose
17	chr8:124430200-124440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:124430200-124441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:124430200-124441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:124430200-124441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:124430200-124441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:124430200-124441000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:124430200-124441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:124430200-124441200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:124430200-124441400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:124430200-124441400	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:124430200-124441400	Weak transcription	Placenta	Placenta
28	chr8:124430200-124441400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:124430200-124441400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:124430200-124441600	Weak transcription	Fetal Brain Female	brain
31	chr8:124430200-124442200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:124430200-124442200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:124430200-124442600	Weak transcription	Gastric	stomach
34	chr8:124430200-124443600	Weak transcription	Ovary	ovary
35	chr8:124430200-124443600	Weak transcription	NH-A	brain
36	chr8:124430200-124443800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:124430200-124443800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:124430200-124443800	Weak transcription	Primary T cells from cord blood	blood
39	chr8:124430200-124443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:124430200-124443800	Weak transcription	Pancreas	Pancrea
41	chr8:124430200-124443800	Weak transcription	Spleen	Spleen
42	chr8:124430200-124443800	Weak transcription	HSMM	muscle
43	chr8:124430200-124447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:124430200-124448600	Weak transcription	NHEK	skin
45	chr8:124430200-124448600	Weak transcription	NHLF	lung
46	chr8:124430200-124448800	Weak transcription	NHDF-Ad	bronchial
47	chr8:124430200-124449000	Weak transcription	Osteobl	bone
48	chr8:124430200-124449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:124430200-124449200	Weak transcription	HUVEC	blood vessel
50	chr8:124430200-124455400	Weak transcription	Fetal Kidney	kidney

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