Variant report

Variant	rs41464645
Chromosome Location	chr5:106843852-106843853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10491394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs153100	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17159868	1.00[CHB][hapmap]
rs17412225	1.00[CHB][hapmap]
rs17449694	0.84[AFR][1000 genomes]
rs17449791	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534165	0.85[LWK][hapmap];0.89[MKK][hapmap];0.82[YRI][hapmap]
rs17534228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17534235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17534270	0.93[CEU][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17594614	1.00[JPT][hapmap]
rs17594762	0.86[JPT][hapmap]
rs26248	0.92[GIH][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs2898622	1.00[JPT][hapmap]
rs41493053	0.86[JPT][hapmap]
rs67437152	0.98[EUR][1000 genomes]
rs6894788	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes]
rs72789627	0.85[AFR][1000 genomes]
rs72789644	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789654	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106834400-106848600	Weak transcription	HMEC	breast
2	chr5:106836400-106855800	Weak transcription	Aorta	Aorta
3	chr5:106838200-106848600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:106838200-106850000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:106838400-106845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:106838400-106848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:106838400-106851800	Weak transcription	NHDF-Ad	bronchial
8	chr5:106838600-106850600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:106838600-106855600	Weak transcription	Right Ventricle	heart
10	chr5:106838800-106847800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:106838800-106848600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:106839200-106847600	Weak transcription	Dnd41	blood
13	chr5:106839200-106855600	Weak transcription	HSMM	muscle
14	chr5:106841600-106845600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:106841800-106845600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:106842000-106845400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:106842000-106845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:106842000-106845600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:106842000-106848800	Weak transcription	Fetal Stomach	stomach
20	chr5:106842200-106845600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:106842200-106845600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:106842200-106847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:106842200-106848200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:106842400-106845600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:106842400-106845800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:106842400-106880000	Weak transcription	Gastric	stomach
27	chr5:106842600-106844800	Weak transcription	Stomach Mucosa	stomach
28	chr5:106843000-106844400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:106843200-106844200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:106843600-106844000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:106843600-106844600	Enhancers	Fetal Heart	heart
32	chr5:106843800-106844000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:106843800-106844000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:106843800-106844000	Enhancers	Liver	Liver
35	chr5:106843800-106844000	Enhancers	Esophagus	oesophagus
36	chr5:106843800-106844000	Enhancers	Left Ventricle	heart
37	chr5:106843800-106844200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:106843800-106844200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:106843800-106844400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr5:106843800-106844400	Flanking Active TSS	A549	lung

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