Variant report

Variant	rs12707901
Chromosome Location	chr8:124425235-124425236
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:124425049-124425836	HepG2	liver:	n/a	n/a
2	TEAD4	chr8:124425207-124425577	K562	blood:	n/a	n/a
3	FOXA1	chr8:124425029-124425838	HepG2	liver:	n/a	n/a
4	FOXA1	chr8:124425113-124425652	HepG2	liver:	n/a	n/a
5	FOXA1	chr8:124425178-124425640	HepG2	liver:	n/a	n/a
6	GATA3	chr8:124425232-124425853	T-47D	breast:	n/a	n/a
7	FOXA1	chr8:124425156-124425805	T-47D	breast:	n/a	n/a
8	FOXA2	chr8:124424948-124426030	HepG2	liver:	n/a	n/a
9	EP300	chr8:124424952-124425646	HepG2	liver:	n/a	n/a
10	SPI1	chr8:124425229-124425671	HL-60	blood:	n/a	n/a
11	POLR2A	chr8:124425141-124425510	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr8:124425075-124425677	HepG2	liver:	n/a	n/a
13	ATF1	chr8:124425210-124425470	K562	blood:	n/a	n/a
14	FOXA2	chr8:124425128-124425756	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124408089..124410281-chr8:124425025..124426733,2	K562	blood:
2	chr8:124419214..124422869-chr8:124424403..124427101,4	K562	blood:
3	chr8:124404505..124411576-chr8:124423647..124430734,19	MCF-7	breast:
4	chr8:124415153..124417409-chr8:124424066..124426465,2	K562	blood:
5	chr8:124423744..124425619-chr8:124427989..124430305,2	MCF-7	breast:

No data

Variant related genes	Relation type
WDYHV1	TF binding region
ENSG00000156795	Chromatin interaction
ENSG00000156802	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10111271	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10956126	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10956131	0.80[EUR][1000 genomes]
rs11774702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776589	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11783637	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11787093	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12543979	0.87[EUR][1000 genomes]
rs3779985	0.87[EUR][1000 genomes]
rs3779989	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3779991	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857957	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4006576	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4870851	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871366	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4871367	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4871368	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4871370	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4871371	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4871373	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4871377	0.87[EUR][1000 genomes]
rs62519216	0.86[EUR][1000 genomes]
rs6470146	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981304	0.87[EUR][1000 genomes]
rs6986525	0.86[EUR][1000 genomes]
rs6987599	0.80[EUR][1000 genomes]
rs7012343	0.87[EUR][1000 genomes]
rs7833321	0.87[EUR][1000 genomes]
rs7836626	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7836880	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7840703	0.87[EUR][1000 genomes]
rs7844004	0.83[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:47 , 50 per page) page: 1

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	chr8:124416200-124425800	Weak transcription	Left Ventricle	heart
6	chr8:124416200-124427800	Weak transcription	Pancreas	Pancrea
7	chr8:124418400-124428200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:124421400-124428200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:124422000-124427800	Weak transcription	Right Ventricle	heart
10	chr8:124422400-124428200	Weak transcription	Aorta	Aorta
11	chr8:124422600-124428000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:124422800-124428200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:124424200-124425400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:124424200-124425600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr8:124424200-124425600	Enhancers	HepG2	liver
16	chr8:124424200-124425800	Enhancers	Fetal Heart	heart
17	chr8:124424400-124425400	Enhancers	Osteobl	bone
18	chr8:124424400-124428200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:124424600-124426200	Enhancers	Fetal Intestine Large	intestine
20	chr8:124424600-124426600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:124424600-124426600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:124424800-124425600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:124424800-124426000	Enhancers	Placenta	Placenta
24	chr8:124424800-124426000	Enhancers	NHLF	lung
25	chr8:124424800-124426200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:124424800-124426200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:124424800-124426200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:124424800-124426200	Enhancers	Fetal Intestine Small	intestine
29	chr8:124424800-124426200	Enhancers	Fetal Lung	lung
30	chr8:124424800-124426200	Enhancers	HSMMtube	muscle
31	chr8:124424800-124426200	Enhancers	NH-A	brain
32	chr8:124424800-124426200	Enhancers	NHDF-Ad	bronchial
33	chr8:124424800-124427000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:124425000-124425400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr8:124425000-124425600	Enhancers	Stomach Mucosa	stomach
36	chr8:124425000-124425800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:124425000-124425800	Enhancers	Fetal Kidney	kidney
38	chr8:124425000-124426000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:124425000-124426000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:124425000-124426000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr8:124425000-124426000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:124425000-124426200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:124425000-124426200	Enhancers	HSMM	muscle
44	chr8:124425000-124426600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:124425000-124427600	Enhancers	K562	blood
46	chr8:124425200-124425600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:124425200-124426000	Weak transcription	Ovary	ovary

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