Variant report

Variant	rs11997733
Chromosome Location	chr8:58948330-58948331
allele	C/T
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	MAFF	chr8:58948098-58948397	HepG2	liver:	n/a	chr8:58948252-58948270
2	MAFK	chr8:58948144-58948407	HepG2	liver:	n/a	chr8:58948254-58948269 chr8:58948255-58948266 chr8:58948255-58948275 chr8:58948253-58948267
3	MAFF	chr8:58948199-58948372	K562	blood:	n/a	chr8:58948252-58948270
4	MAFK	chr8:58948120-58948423	HepG2	liver:	n/a	chr8:58948254-58948269 chr8:58948255-58948266 chr8:58948255-58948275 chr8:58948253-58948267
5	KAP1	chr8:58948325-58948692	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58948042..58950902-chr8:58979793..58982678,2	MCF-7	breast:
2	chr8:58930083..58932759-chr8:58948299..58949930,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253523	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10089259	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504246	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs10957030	0.85[CEU][hapmap]
rs1106314	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1108188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774174	0.85[CEU][hapmap]
rs11780747	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781102	0.85[CEU][hapmap]
rs11781204	0.82[CEU][hapmap]
rs11998721	0.85[CEU][hapmap]
rs12114432	0.85[CEU][hapmap]
rs13252750	0.80[ASN][1000 genomes]
rs16922937	0.85[CEU][hapmap]
rs16922943	0.85[CEU][hapmap]
rs16922946	0.85[CEU][hapmap]
rs28550347	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34915140	0.80[ASN][1000 genomes]
rs35124619	0.80[ASN][1000 genomes]
rs35856042	0.81[ASN][1000 genomes]
rs56128341	0.80[ASN][1000 genomes]
rs58124183	0.80[ASN][1000 genomes]
rs61126058	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471679	0.85[CEU][hapmap]
rs67784763	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68143639	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989512	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989882	0.85[CEU][hapmap]
rs6999606	0.80[ASN][1000 genomes]
rs7000941	0.85[CEU][hapmap]
rs7006812	0.83[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7007800	0.85[CEU][hapmap]
rs7015049	0.85[CEU][hapmap]
rs72621433	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812600	0.85[CEU][hapmap]
rs7813490	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832353	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7842966	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7845456	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs884135	0.82[CEU][hapmap]
rs884136	0.85[CEU][hapmap]
rs9297984	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs9694113	0.85[CEU][hapmap]
rs9694139	0.85[CEU][hapmap]

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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935000-58948600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:58935000-58950200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
4	chr8:58943200-58950400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:58943800-58949600	Weak transcription	Placenta	Placenta
6	chr8:58943800-58950000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:58943800-58951200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:58944000-58949400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr8:58944000-58950200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:58944000-58950200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:58944000-58950200	Weak transcription	HSMMtube	muscle
12	chr8:58944000-58950400	Weak transcription	Brain Anterior Caudate	brain
13	chr8:58944000-58950400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:58944000-58951400	Weak transcription	NHLF	lung
15	chr8:58944000-58951600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:58944200-58950000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:58944200-58950000	Weak transcription	NHDF-Ad	bronchial
18	chr8:58944400-58948800	Strong transcription	Fetal Stomach	stomach
19	chr8:58944400-58949000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:58944400-58949400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:58944600-58948400	Weak transcription	Ovary	ovary
22	chr8:58944600-58954400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:58944600-58963000	Weak transcription	Stomach Mucosa	stomach
24	chr8:58944800-58962800	Weak transcription	Gastric	stomach
25	chr8:58945200-58948400	Strong transcription	Fetal Lung	lung
26	chr8:58945400-58952200	Weak transcription	HepG2	liver
27	chr8:58945400-58957800	Weak transcription	Pancreas	Pancrea
28	chr8:58945600-58951600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:58945800-58950000	Weak transcription	Brain Germinal Matrix	brain
30	chr8:58946000-58960000	Weak transcription	Fetal Kidney	kidney
31	chr8:58946200-58949000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:58946200-58950200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:58946600-58948600	Enhancers	Colon Smooth Muscle	Colon
34	chr8:58946600-58952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:58946600-58953200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:58946800-58951600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:58947000-58950200	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:58947000-58954400	Weak transcription	Fetal Intestine Large	intestine
39	chr8:58947200-58948400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:58947200-58948400	Weak transcription	Liver	Liver
41	chr8:58947200-58948400	Weak transcription	Right Ventricle	heart
42	chr8:58947200-58949000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:58947200-58949200	Weak transcription	Left Ventricle	heart
44	chr8:58947200-58950200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:58947200-58951000	Weak transcription	Lung	lung
46	chr8:58947200-58951600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:58947400-58950200	Weak transcription	Right Atrium	heart
48	chr8:58947400-58951000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:58947400-58953000	Enhancers	Fetal Heart	heart
50	chr8:58947600-58951200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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