Variant report

Variant	rs152607
Chromosome Location	chr5:106771514-106771515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs115779	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs149444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs149498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs151956	0.96[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs151958	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs152582	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs152584	0.86[ASN][1000 genomes]
rs152585	0.92[ASN][1000 genomes]
rs152587	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs152589	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs152590	0.89[ASN][1000 genomes]
rs152591	1.00[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs152592	1.00[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs152593	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152596	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs152597	0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs152598	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs152599	0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs152601	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs152602	0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs152603	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs152605	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs152606	0.96[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs152608	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs152609	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152611	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152612	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs152613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs153686	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs154645	0.96[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs154646	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs154648	0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2283	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs27661	0.92[ASN][1000 genomes]
rs3843490	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106756600-106772000	Weak transcription	Esophagus	oesophagus
2	chr5:106758600-106772000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:106758600-106785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:106762200-106771600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:106762200-106772200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:106763000-106772000	Weak transcription	Right Atrium	heart
7	chr5:106763200-106773600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:106763200-106773600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:106763400-106771800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:106766200-106772000	Weak transcription	Brain Germinal Matrix	brain
11	chr5:106766400-106775200	Weak transcription	Aorta	Aorta
12	chr5:106767800-106771600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:106768000-106772600	Enhancers	A549	lung
14	chr5:106768200-106772000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:106768400-106772000	Weak transcription	Fetal Stomach	stomach
16	chr5:106768600-106771800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:106768600-106771800	Enhancers	Fetal Heart	heart
18	chr5:106768600-106772200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:106768600-106773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:106768600-106774200	Weak transcription	NHEK	skin
21	chr5:106768600-106775000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:106768600-106778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:106768600-106779000	Weak transcription	HSMM	muscle
24	chr5:106770200-106771800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:106770400-106771800	Weak transcription	Left Ventricle	heart
26	chr5:106770800-106772600	Enhancers	Colon Smooth Muscle	Colon
27	chr5:106771000-106773200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:106771000-106774200	Enhancers	Fetal Brain Female	brain
29	chr5:106771200-106772400	Enhancers	Right Ventricle	heart
30	chr5:106771200-106772600	Enhancers	Fetal Kidney	kidney
31	chr5:106771400-106773200	Enhancers	Fetal Lung	lung
32	chr5:106771400-106773600	Enhancers	Cortex derived primary cultured neurospheres	brain

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