Variant report

Variant	rs11780747
Chromosome Location	chr8:58952723-58952724
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10086632	0.81[CHB][hapmap]
rs10089259	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[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	1.00[TSI][hapmap]
rs1105302	0.81[CHB][hapmap]
rs1106314	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1108188	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11783171	0.81[CHB][hapmap]
rs11997733	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]
rs12114432	1.00[TSI][hapmap]
rs13249102	0.81[CHB][hapmap]
rs13252750	0.80[ASN][1000 genomes]
rs13279262	0.81[CHB][hapmap]
rs28550347	0.95[AFR][1000 genomes];1.00[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	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471679	0.90[TSI][hapmap]
rs67784763	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68143639	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989512	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999606	0.80[ASN][1000 genomes]
rs7006812	0.85[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015049	0.88[TSI][hapmap]
rs72621433	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813490	0.85[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]
rs7828423	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]
rs7832353	0.85[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	0.95[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];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs9297984	0.86[CHB][hapmap];0.80[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:61 , 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	chr8:58946600-58952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:58946600-58953200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:58947000-58954400	Weak transcription	Fetal Intestine Large	intestine
10	chr8:58947400-58953000	Enhancers	Fetal Heart	heart
11	chr8:58948800-58959800	Weak transcription	Ovary	ovary
12	chr8:58949400-58966800	Weak transcription	Liver	Liver
13	chr8:58950000-58955200	Enhancers	Fetal Brain Male	brain
14	chr8:58950200-58953000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:58950200-58953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:58950200-58953000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:58950600-58954000	Weak transcription	Spleen	Spleen
18	chr8:58951400-58953200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:58951800-58953000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:58951800-58953000	Enhancers	Right Ventricle	heart
21	chr8:58951800-58954000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:58951800-58963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:58951800-58963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:58952000-58952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:58952000-58952800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:58952000-58952800	Enhancers	HSMMtube	muscle
27	chr8:58952000-58953000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:58952000-58953600	Weak transcription	Lung	lung
29	chr8:58952000-58953800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:58952000-58954000	Weak transcription	Psoas Muscle	Psoas
31	chr8:58952000-58954000	Weak transcription	Right Atrium	heart
32	chr8:58952000-58954600	Strong transcription	Fetal Stomach	stomach
33	chr8:58952000-58956200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:58952000-58959800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:58952000-58964200	Weak transcription	Osteobl	bone
36	chr8:58952200-58952800	Enhancers	HepG2	liver
37	chr8:58952200-58953800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:58952200-58954000	Weak transcription	Fetal Lung	lung
39	chr8:58952200-58955400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:58952200-58955400	Weak transcription	Brain Substantia Nigra	brain
41	chr8:58952200-58960400	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:58952200-58960600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:58952200-58960800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:58952200-58961000	Weak transcription	Brain Germinal Matrix	brain
45	chr8:58952200-58961200	Weak transcription	Brain Anterior Caudate	brain
46	chr8:58952200-58962800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
48	chr8:58952400-58953000	Weak transcription	Fetal Brain Female	brain
49	chr8:58952400-58953200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:58952400-58953200	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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