Variant report

Variant	rs17534235
Chromosome Location	chr5:106847605-106847606
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10491394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153100	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17159868	1.00[CHB][hapmap]
rs17412225	1.00[CHB][hapmap]
rs17449694	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17449791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17534165	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17534228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534270	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17594614	1.00[JPT][hapmap]
rs17594762	0.86[JPT][hapmap]
rs26248	0.84[EUR][1000 genomes]
rs2898622	1.00[JPT][hapmap]
rs41464645	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]
rs41493053	0.86[JPT][hapmap]
rs67437152	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6894788	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72789644	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72789654	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:43 , 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	chr5:106838400-106848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:106838400-106851800	Weak transcription	NHDF-Ad	bronchial
7	chr5:106838600-106850600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:106838600-106855600	Weak transcription	Right Ventricle	heart
9	chr5:106838800-106847800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:106838800-106848600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:106839200-106855600	Weak transcription	HSMM	muscle
12	chr5:106842000-106848800	Weak transcription	Fetal Stomach	stomach
13	chr5:106842200-106847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:106842200-106848200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:106842400-106880000	Weak transcription	Gastric	stomach
16	chr5:106844000-106848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:106844000-106848600	Weak transcription	Left Ventricle	heart
18	chr5:106844200-106848200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:106844200-106848800	Weak transcription	Esophagus	oesophagus
20	chr5:106844400-106849600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:106844400-106850000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:106844600-106848000	Weak transcription	Fetal Heart	heart
23	chr5:106845600-106850800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:106845800-106850800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:106845800-106855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:106846000-106847800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:106846000-106855800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:106846600-106849800	Weak transcription	A549	lung
29	chr5:106847000-106850800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:106847200-106849400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:106847200-106850600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:106847200-106850600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:106847200-106853200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:106847400-106849800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:106847400-106850800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:106847400-106850800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:106847400-106851000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:106847600-106847800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr5:106847600-106848400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr5:106847600-106849400	Enhancers	GM12878-XiMat	blood
41	chr5:106847600-106850800	Enhancers	Thymus	Thymus
42	chr5:106847600-106851000	Enhancers	Fetal Thymus	thymus
43	chr5:106847600-106851000	Enhancers	Dnd41	blood

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