Variant report

Variant	rs4407868
Chromosome Location	chr8:58952229-58952230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10086632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089240	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10091875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504246	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1105302	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1108188	0.81[CHB][hapmap]
rs11780747	0.81[CHB][hapmap]
rs11783171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998684	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs12114333	0.84[EUR][1000 genomes]
rs13249102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13252750	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13279262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34915140	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35124619	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35856042	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4452790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498527	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]
rs4524775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55930039	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56128341	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57650783	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58124183	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60265023	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6994434	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999606	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009526	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017824	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828423	0.81[CHB][hapmap]
rs7841308	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841370	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842565	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297984	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:69 , 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	chr8:58949800-58952400	Enhancers	Left Ventricle	heart
14	chr8:58950000-58952400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:58950000-58955200	Enhancers	Fetal Brain Male	brain
16	chr8:58950200-58952400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:58950200-58952400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:58950200-58953000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:58950200-58953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:58950200-58953000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:58950400-58952400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:58950400-58952400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:58950600-58952400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:58950600-58952400	Enhancers	NH-A	brain
25	chr8:58950600-58954000	Weak transcription	Spleen	Spleen
26	chr8:58950800-58952400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:58950800-58952400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:58950800-58952400	Enhancers	NHDF-Ad	bronchial
29	chr8:58951400-58952400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:58951400-58953200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr8:58951600-58952600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:58951800-58952400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:58951800-58952400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:58951800-58952400	Enhancers	Fetal Brain Female	brain
35	chr8:58951800-58953000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:58951800-58953000	Enhancers	Right Ventricle	heart
37	chr8:58951800-58954000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:58951800-58963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:58951800-58963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:58952000-58952400	Enhancers	Brain Hippocampus Middle	brain
41	chr8:58952000-58952400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:58952000-58952400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:58952000-58952400	Genic enhancers	Fetal Muscle Leg	muscle
44	chr8:58952000-58952400	Enhancers	HSMM	muscle
45	chr8:58952000-58952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:58952000-58952800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:58952000-58952800	Enhancers	HSMMtube	muscle
48	chr8:58952000-58953000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:58952000-58953600	Weak transcription	Lung	lung
50	chr8:58952000-58953800	Weak transcription	Stomach Smooth Muscle	stomach

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