Variant report

Variant	rs17123225
Chromosome Location	chr1:62710768-62710769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10493319	1.00[CEU][hapmap]
rs17123220	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56908498	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079050	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62701000-62710800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:62704000-62711400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:62704000-62720600	Weak transcription	Right Atrium	heart
4	chr1:62704200-62711600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:62704200-62712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:62704400-62713200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:62706400-62713200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:62707200-62710800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:62707600-62719600	Weak transcription	Fetal Kidney	kidney
10	chr1:62707600-62732000	Weak transcription	Gastric	stomach
11	chr1:62707800-62711800	Weak transcription	Esophagus	oesophagus
12	chr1:62707800-62712000	Weak transcription	Colonic Mucosa	Colon
13	chr1:62707800-62713200	Weak transcription	Fetal Brain Female	brain
14	chr1:62707800-62727400	Weak transcription	Pancreas	Pancrea
15	chr1:62708000-62713000	Weak transcription	Fetal Heart	heart
16	chr1:62708200-62720000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:62709800-62710800	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr1:62710000-62712000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:62710400-62711000	Strong transcription	Fetal Lung	lung
20	chr1:62710400-62711200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:62710400-62711400	Enhancers	HepG2	liver
22	chr1:62710400-62712000	Strong transcription	Placenta	Placenta
23	chr1:62710400-62713600	Strong transcription	Fetal Stomach	stomach
24	chr1:62710600-62711200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:62710600-62711200	Enhancers	HSMMtube	muscle
26	chr1:62710600-62711400	Enhancers	HMEC	breast
27	chr1:62710600-62711400	Enhancers	NHEK	skin
28	chr1:62710600-62711600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:62710600-62711800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:62710600-62713800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:62710600-62713800	Strong transcription	Fetal Muscle Leg	muscle

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