Variant report

Variant	rs7828423
Chromosome Location	chr8:58952091-58952092
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10086632	0.81[CHB][hapmap]
rs10089259	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10091875	0.81[CHB][hapmap]
rs10504246	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs10957030	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs1105302	0.81[CHB][hapmap]
rs1106314	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1108188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774174	0.85[CEU][hapmap]
rs11780747	0.84[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781102	0.85[CEU][hapmap]
rs11781204	0.82[CEU][hapmap]
rs11783171	0.81[CHB][hapmap]
rs11997733	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]
rs11998721	0.85[CEU][hapmap]
rs12114432	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs13249102	0.81[CHB][hapmap]
rs13252750	0.80[ASN][1000 genomes]
rs13279262	0.81[CHB][hapmap]
rs16922937	0.85[CEU][hapmap]
rs16922943	0.85[CEU][hapmap]
rs16922946	0.85[CEU][hapmap]
rs28550347	0.95[AMR][1000 genomes];0.97[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]
rs4407868	0.81[CHB][hapmap]
rs4452790	0.81[CHB][hapmap]
rs4524775	0.81[CHB][hapmap]
rs4524776	0.81[CHB][hapmap]
rs56128341	0.80[ASN][1000 genomes]
rs58124183	0.80[ASN][1000 genomes]
rs61126058	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471679	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs67784763	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68143639	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989512	0.82[AMR][1000 genomes];0.81[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	0.85[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7007800	0.85[CEU][hapmap]
rs7015049	0.85[CEU][hapmap];0.88[TSI][hapmap]
rs72621433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826402	0.81[CHB][hapmap]
rs7832353	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7842565	0.81[CHB][hapmap]
rs7842966	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7845456	0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][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:70 , 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	chr8:58945400-58952200	Weak transcription	HepG2	liver
6	chr8:58945400-58957800	Weak transcription	Pancreas	Pancrea
7	chr8:58946000-58960000	Weak transcription	Fetal Kidney	kidney
8	chr8:58946600-58952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:58946600-58953200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:58947000-58954400	Weak transcription	Fetal Intestine Large	intestine
11	chr8:58947400-58953000	Enhancers	Fetal Heart	heart
12	chr8:58948800-58959800	Weak transcription	Ovary	ovary
13	chr8:58949400-58966800	Weak transcription	Liver	Liver
14	chr8:58949800-58952400	Enhancers	Left Ventricle	heart
15	chr8:58950000-58952400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:58950000-58955200	Enhancers	Fetal Brain Male	brain
17	chr8:58950200-58952400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:58950200-58952400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:58950200-58953000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:58950200-58953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:58950200-58953000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:58950400-58952400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:58950400-58952400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:58950600-58952200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:58950600-58952200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:58950600-58952400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:58950600-58952400	Enhancers	NH-A	brain
28	chr8:58950600-58954000	Weak transcription	Spleen	Spleen
29	chr8:58950800-58952400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:58950800-58952400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:58950800-58952400	Enhancers	NHDF-Ad	bronchial
32	chr8:58951400-58952400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:58951400-58953200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:58951600-58952200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:58951600-58952200	Enhancers	Colon Smooth Muscle	Colon
36	chr8:58951600-58952600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:58951800-58952200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:58951800-58952200	Enhancers	Adipose Nuclei	Adipose
39	chr8:58951800-58952200	Enhancers	Fetal Lung	lung
40	chr8:58951800-58952400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr8:58951800-58952400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:58951800-58952400	Enhancers	Fetal Brain Female	brain
43	chr8:58951800-58953000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:58951800-58953000	Enhancers	Right Ventricle	heart
45	chr8:58951800-58954000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:58951800-58963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:58951800-58963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr8:58952000-58952200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:58952000-58952200	Enhancers	Brain Anterior Caudate	brain
50	chr8:58952000-58952200	Enhancers	Brain Cingulate Gyrus	brain

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