Variant report

Variant	rs149444
Chromosome Location	chr5:106786616-106786617
allele	A/G
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:38)

rs_ID	r²[population]
rs115779	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs149498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151956	0.95[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs151958	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs152582	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs152584	0.94[ASN][1000 genomes]
rs152585	1.00[ASN][1000 genomes]
rs152587	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs152589	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs152590	0.94[ASN][1000 genomes]
rs152591	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152592	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152593	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs152595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs152596	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152597	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs152598	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152599	0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs152601	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs152602	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs152603	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs152605	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs152606	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs152607	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]
rs152608	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs152609	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[YRI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs152611	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs152612	0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs152613	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs153686	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs154642	0.89[AFR][1000 genomes]
rs154645	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs154646	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs154647	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs154648	0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2283	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs27661	1.00[ASN][1000 genomes]
rs3843490	0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106772600-106790800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:106774600-106790600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:106777400-106790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:106779400-106790400	Weak transcription	HSMM	muscle
5	chr5:106781800-106789400	Weak transcription	Aorta	Aorta
6	chr5:106782800-106790600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:106783400-106787200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:106785000-106786800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:106785200-106789400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:106785600-106786800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:106785600-106787000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:106785600-106789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:106785800-106787200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:106785800-106791400	Weak transcription	Dnd41	blood
15	chr5:106786000-106786800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:106786000-106786800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:106786200-106786800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:106786200-106787000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:106786200-106789200	Weak transcription	Fetal Heart	heart
20	chr5:106786400-106786800	Enhancers	GM12878-XiMat	blood
21	chr5:106786400-106790600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:106786400-106790600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:106786400-106790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:106786600-106787000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:106786600-106789200	Weak transcription	A549	lung
26	chr5:106786600-106789400	Weak transcription	Fetal Lung	lung
27	chr5:106786600-106790600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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