Variant report

Variant	rs57650783
Chromosome Location	chr8:58950042-58950043
allele	A/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	GATA3	chr8:58949996-58950782	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr8:58949972-58950669	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:58948042..58950902-chr8:58979793..58982678,2	MCF-7	breast:
2	chr8:58949470..58951996-chr8:58952987..58955730,2	MCF-7	breast:
3	chr8:58801373..58802969-chr8:58949244..58951710,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253523	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10086632	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10089240	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10091875	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10099623	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504246	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1105302	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11783171	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11998684	0.87[EUR][1000 genomes]
rs12114333	0.83[EUR][1000 genomes]
rs13249102	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13252750	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13279262	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34915140	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35124619	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35856042	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4407868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4452790	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4498527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4524775	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4524776	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55930039	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56128341	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58124183	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60265023	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994434	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6999606	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7009526	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7017824	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7826402	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841308	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7841370	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7842565	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9297984	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	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
2	esv2265359	chr8:58950042-58950043	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935000-58950200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
3	chr8:58943200-58950400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:58943800-58951200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:58944000-58950200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:58944000-58950200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:58944000-58950200	Weak transcription	HSMMtube	muscle
8	chr8:58944000-58950400	Weak transcription	Brain Anterior Caudate	brain
9	chr8:58944000-58950400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:58944000-58951400	Weak transcription	NHLF	lung
11	chr8:58944000-58951600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:58944600-58954400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:58944600-58963000	Weak transcription	Stomach Mucosa	stomach
14	chr8:58944800-58962800	Weak transcription	Gastric	stomach
15	chr8:58945400-58952200	Weak transcription	HepG2	liver
16	chr8:58945400-58957800	Weak transcription	Pancreas	Pancrea
17	chr8:58945600-58951600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:58946000-58960000	Weak transcription	Fetal Kidney	kidney
19	chr8:58946200-58950200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:58946600-58952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:58946600-58953200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:58946800-58951600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:58947000-58950200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:58947000-58954400	Weak transcription	Fetal Intestine Large	intestine
25	chr8:58947200-58950200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:58947200-58951000	Weak transcription	Lung	lung
27	chr8:58947200-58951600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:58947400-58950200	Weak transcription	Right Atrium	heart
29	chr8:58947400-58951000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:58947400-58953000	Enhancers	Fetal Heart	heart
31	chr8:58947600-58951200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:58948000-58951400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:58948000-58951800	Enhancers	Psoas Muscle	Psoas
34	chr8:58948600-58950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:58948600-58951600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:58948600-58951600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:58948600-58951600	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:58948800-58950200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:58948800-58950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:58948800-58950200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:58948800-58950400	Weak transcription	Fetal Stomach	stomach
42	chr8:58948800-58951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:58948800-58951400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:58948800-58959800	Weak transcription	Ovary	ovary
45	chr8:58949000-58950200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:58949000-58950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:58949000-58950400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:58949000-58950400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:58949200-58950200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:58949200-58950200	Weak transcription	Stomach Smooth Muscle	stomach

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