Variant report

Variant	rs152562
Chromosome Location	chr5:106841783-106841784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs151943	0.87[CHB][hapmap]
rs152556	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs152557	0.87[CHB][hapmap]
rs152558	0.93[CHB][hapmap];0.86[CHD][hapmap];0.84[ASN][1000 genomes]
rs152560	0.92[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs152561	0.87[CHB][hapmap]
rs25966	0.81[EUR][1000 genomes]
rs25976	0.82[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs25979	0.81[EUR][1000 genomes]
rs25980	0.81[EUR][1000 genomes]
rs25981	0.81[EUR][1000 genomes]
rs25996	0.82[EUR][1000 genomes]
rs27853	0.81[CEU][hapmap]
rs28001	0.84[EUR][1000 genomes]
rs31717	0.81[CEU][hapmap]
rs32004	0.90[ASN][1000 genomes]
rs32013	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[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:47 , 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	chr5:106837800-106842400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:106838200-106848600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:106838200-106850000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:106838400-106845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:106838400-106848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:106838400-106851800	Weak transcription	NHDF-Ad	bronchial
9	chr5:106838600-106842200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:106838600-106842200	Weak transcription	Gastric	stomach
11	chr5:106838600-106843800	Weak transcription	Left Ventricle	heart
12	chr5:106838600-106850600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:106838600-106855600	Weak transcription	Right Ventricle	heart
14	chr5:106838800-106843200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:106838800-106847800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:106838800-106848600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:106839200-106847600	Weak transcription	Dnd41	blood
18	chr5:106839200-106855600	Weak transcription	HSMM	muscle
19	chr5:106840000-106842200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:106840000-106842400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:106840600-106841800	Enhancers	Liver	Liver
22	chr5:106840600-106842000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:106840800-106842200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:106841000-106841800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:106841000-106842000	Active TSS	Stomach Mucosa	stomach
26	chr5:106841000-106842200	Enhancers	Fetal Heart	heart
27	chr5:106841000-106842400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:106841000-106842400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr5:106841000-106842400	Flanking Active TSS	A549	lung
30	chr5:106841200-106842000	Enhancers	Fetal Lung	lung
31	chr5:106841200-106842400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:106841200-106843800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:106841400-106841800	Enhancers	Fetal Kidney	kidney
34	chr5:106841400-106842000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:106841400-106842000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:106841600-106841800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:106841600-106841800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:106841600-106842000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:106841600-106842000	Active TSS	Fetal Stomach	stomach
40	chr5:106841600-106842200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:106841600-106842200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:106841600-106842200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr5:106841600-106842400	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:106841600-106842400	Enhancers	Fetal Intestine Large	intestine
45	chr5:106841600-106842400	Enhancers	Pancreas	Pancrea
46	chr5:106841600-106842400	Enhancers	GM12878-XiMat	blood
47	chr5:106841600-106845600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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