Variant report

Variant	rs4498527
Chromosome Location	chr8:58954014-58954015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58949470..58951996-chr8:58952987..58955730,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10086632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10089240	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10091875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10099623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504246	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1105302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11998684	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs12114333	0.85[EUR][1000 genomes]
rs13249102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13252750	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13279262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34915140	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35124619	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35856042	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4407868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4524775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4524776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55930039	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56128341	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57650783	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58124183	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60265023	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6994434	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999606	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7009526	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017824	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841308	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841370	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297984	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58944600-58954400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:58944600-58963000	Weak transcription	Stomach Mucosa	stomach
4	chr8:58944800-58962800	Weak transcription	Gastric	stomach
5	chr8:58945400-58957800	Weak transcription	Pancreas	Pancrea
6	chr8:58946000-58960000	Weak transcription	Fetal Kidney	kidney
7	chr8:58947000-58954400	Weak transcription	Fetal Intestine Large	intestine
8	chr8:58948800-58959800	Weak transcription	Ovary	ovary
9	chr8:58949400-58966800	Weak transcription	Liver	Liver
10	chr8:58950000-58955200	Enhancers	Fetal Brain Male	brain
11	chr8:58951800-58963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:58951800-58963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:58952000-58954600	Strong transcription	Fetal Stomach	stomach
14	chr8:58952000-58956200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:58952000-58959800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:58952000-58964200	Weak transcription	Osteobl	bone
17	chr8:58952200-58955400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:58952200-58955400	Weak transcription	Brain Substantia Nigra	brain
19	chr8:58952200-58960400	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:58952200-58960600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:58952200-58960800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:58952200-58961000	Weak transcription	Brain Germinal Matrix	brain
23	chr8:58952200-58961200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:58952200-58962800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
26	chr8:58952400-58955400	Weak transcription	Left Ventricle	heart
27	chr8:58952400-58955600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:58952400-58958800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr8:58952400-58960200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:58952400-58960800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:58952600-58956000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:58952800-58954200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:58952800-58954400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
35	chr8:58953000-58960600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:58953000-58960600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:58953200-58954600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:58953200-58955000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:58953200-58955400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:58953600-58954200	Enhancers	Lung	lung
41	chr8:58953800-58954400	Genic enhancers	Fetal Heart	heart
42	chr8:58953800-58954400	Strong transcription	NHDF-Ad	bronchial
43	chr8:58953800-58954600	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:58953800-58955000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr8:58953800-58960200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:58954000-58954200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:58954000-58954200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:58954000-58954200	Enhancers	Psoas Muscle	Psoas
49	chr8:58954000-58954200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr8:58954000-58954200	Genic enhancers	Spleen	Spleen

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