Variant report

Variant	rs3905739
Chromosome Location	chr8:124426170-124426171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:124425897-124426281	HepG2	liver:	n/a	chr8:124426139-124426148
2	CEBPB	chr8:124426063-124426649	HepG2	liver:	n/a	chr8:124426207-124426218 chr8:124426282-124426293
3	CEBPB	chr8:124426097-124426636	HepG2	liver:	n/a	chr8:124426207-124426218 chr8:124426282-124426293
4	POLR2A	chr8:124425999-124426434	HepG2	liver:	n/a	n/a
5	EGR1	chr8:124426092-124426368	K562	blood:	n/a	n/a
6	EP300	chr8:124425838-124426396	HepG2	liver:	n/a	n/a
7	EGR1	chr8:124426045-124426381	K562	blood:	n/a	n/a
8	ZNF384	chr8:124426103-124426681	K562	blood:	n/a	chr8:124426402-124426410
9	TEAD4	chr8:124425823-124426446	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:124426114-124426472	K562	blood:	n/a	chr8:124426207-124426218 chr8:124426282-124426293
11	MYBL2	chr8:124425609-124426317	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:124426101-124426469	K562	blood:	n/a	chr8:124426207-124426218 chr8:124426282-124426293
13	YY1	chr8:124425965-124426357	HepG2	liver:	n/a	chr8:124426139-124426148
14	HDAC2	chr8:124425957-124426341	HepG2	liver:	n/a	n/a
15	FOXA2	chr8:124425924-124426340	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124283829..124288838-chr8:124426117..124430573,9	K562	blood:
2	chr8:124408089..124410281-chr8:124425025..124426733,2	K562	blood:
3	chr8:124402970..124404623-chr8:124425335..124427199,2	K562	blood:
4	chr8:124420257..124422233-chr8:124425540..124427078,2	MCF-7	breast:
5	chr8:124419214..124422869-chr8:124424403..124427101,4	K562	blood:
6	chr8:124283849..124288367-chr8:124426037..124430184,7	K562	blood:
7	chr8:124404505..124411576-chr8:124423647..124430734,19	MCF-7	breast:
8	chr8:124415153..124417409-chr8:124424066..124426465,2	K562	blood:

Variant related genes	Relation type
WDYHV1	TF binding region
ENSG00000156802	Chromatin interaction
ENSG00000165156	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10106648	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10106777	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10110934	0.83[EUR][1000 genomes]
rs11780128	0.87[EUR][1000 genomes]
rs12235062	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12541494	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12545841	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12547262	0.88[EUR][1000 genomes]
rs12675771	0.87[EUR][1000 genomes]
rs1967032	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28485832	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28633322	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3779986	0.83[EUR][1000 genomes]
rs3824254	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4870853	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4871363	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4871378	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4871380	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55766597	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470153	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6993896	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6994481	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7001767	0.87[EUR][1000 genomes]
rs7012822	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7341643	0.81[AMR][1000 genomes];0.87[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3905739	WDYHV1	cis	Thyroid	GTEx
rs3905739	WDYHV1	cis	Heart Left Ventricle	GTEx
rs3905739	WDYHV1	cis	lung	GTEx
rs3905739	C8orf32	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124409400-124427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:124409400-124427600	Weak transcription	A549	lung
3	chr8:124409400-124428000	Weak transcription	Brain Anterior Caudate	brain
4	chr8:124409800-124427800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:124416200-124427800	Weak transcription	Pancreas	Pancrea
6	chr8:124418400-124428200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:124421400-124428200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:124422000-124427800	Weak transcription	Right Ventricle	heart
9	chr8:124422400-124428200	Weak transcription	Aorta	Aorta
10	chr8:124422600-124428000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:124422800-124428200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:124424400-124428200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:124424600-124426200	Enhancers	Fetal Intestine Large	intestine
14	chr8:124424600-124426600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:124424600-124426600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:124424800-124426200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:124424800-124426200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:124424800-124426200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:124424800-124426200	Enhancers	Fetal Intestine Small	intestine
20	chr8:124424800-124426200	Enhancers	Fetal Lung	lung
21	chr8:124424800-124426200	Enhancers	HSMMtube	muscle
22	chr8:124424800-124426200	Enhancers	NH-A	brain
23	chr8:124424800-124426200	Enhancers	NHDF-Ad	bronchial
24	chr8:124424800-124427000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:124425000-124426200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:124425000-124426200	Enhancers	HSMM	muscle
27	chr8:124425000-124426600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:124425000-124427600	Enhancers	K562	blood
29	chr8:124425400-124428000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:124425600-124426200	Flanking Active TSS	HepG2	liver
31	chr8:124425600-124428000	Enhancers	Liver	Liver
32	chr8:124425600-124428000	Weak transcription	Fetal Stomach	stomach
33	chr8:124425800-124426200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:124425800-124426200	Enhancers	Duodenum Mucosa	Duodenum
35	chr8:124425800-124426200	Flanking Active TSS	Fetal Heart	heart
36	chr8:124425800-124426200	Enhancers	Left Ventricle	heart
37	chr8:124425800-124428000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:124425800-124428200	Weak transcription	Fetal Kidney	kidney
39	chr8:124426000-124426200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:124426000-124426200	Enhancers	Stomach Mucosa	stomach
41	chr8:124426000-124426800	Enhancers	Ovary	ovary
42	chr8:124426000-124427600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:124426000-124427600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:124426000-124427600	Weak transcription	NHLF	lung
45	chr8:124426000-124427600	Enhancers	Osteobl	bone
46	chr8:124426000-124427800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:124426000-124427800	Weak transcription	Placenta	Placenta
48	chr8:124426000-124428000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:124426000-124428000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:124426000-124428000	Weak transcription	Monocytes-CD14+_RO01746	blood

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