Variant report

Variant	rs1817527
Chromosome Location	chr8:124426373-124426374
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	CEBPB	chr8:124426063-124426649	HepG2	liver:	n/a	chr8:124426207-124426218 chr8:124426282-124426293
2	ARID3A	chr8:124426174-124426374	HepG2	liver:	n/a	n/a
3	CEBPB	chr8:124426097-124426636	HepG2	liver:	n/a	chr8:124426207-124426218 chr8:124426282-124426293
4	CEBPB	chr8:124426204-124426379	K562	blood:	n/a	chr8:124426207-124426218 chr8:124426282-124426293
5	POLR2A	chr8:124425999-124426434	HepG2	liver:	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	CEBPB	chr8:124426206-124426444	IMR90	lung:	n/a	chr8:124426207-124426218 chr8:124426282-124426293
12	CEBPB	chr8:124426101-124426469	K562	blood:	n/a	chr8:124426207-124426218 chr8:124426282-124426293

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:
9	chr8:124426263..124428395-chr8:124489396..124491860,2	K562	blood:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10087527	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10089561	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10110826	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10216826	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10956129	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12234925	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35680076	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4541891	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4871365	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4871375	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4871376	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6470148	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6470151	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6989927	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7004908	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005105	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7822727	0.81[AMR][1000 genomes]
rs7838923	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7841922	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9297669	0.83[AMR][1000 genomes];0.86[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

No data

Chromatin state (count:51 , 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	chr8:124424600-124426600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:124424600-124426600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:124424800-124427000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:124425000-124426600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:124425000-124427600	Enhancers	K562	blood
18	chr8:124425400-124428000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:124425600-124428000	Enhancers	Liver	Liver
20	chr8:124425600-124428000	Weak transcription	Fetal Stomach	stomach
21	chr8:124425800-124428000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:124425800-124428200	Weak transcription	Fetal Kidney	kidney
23	chr8:124426000-124426800	Enhancers	Ovary	ovary
24	chr8:124426000-124427600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:124426000-124427600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:124426000-124427600	Weak transcription	NHLF	lung
27	chr8:124426000-124427600	Enhancers	Osteobl	bone
28	chr8:124426000-124427800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:124426000-124427800	Weak transcription	Placenta	Placenta
30	chr8:124426000-124428000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:124426000-124428000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:124426000-124428000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:124426000-124428200	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:124426000-124428200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:124426000-124428400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:124426200-124427400	Weak transcription	Fetal Lung	lung
37	chr8:124426200-124427400	Enhancers	HepG2	liver
38	chr8:124426200-124427600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:124426200-124427600	Weak transcription	Fetal Intestine Large	intestine
40	chr8:124426200-124427600	Weak transcription	Fetal Intestine Small	intestine
41	chr8:124426200-124427800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:124426200-124427800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:124426200-124428000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:124426200-124428000	Weak transcription	Left Ventricle	heart
45	chr8:124426200-124428000	Weak transcription	HSMM	muscle
46	chr8:124426200-124428000	Weak transcription	NH-A	brain
47	chr8:124426200-124428200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:124426200-124428200	Enhancers	Fetal Heart	heart
49	chr8:124426200-124428200	Weak transcription	Stomach Mucosa	stomach
50	chr8:124426200-124428200	Weak transcription	HSMMtube	muscle

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