Variant report

Variant	rs17625543
Chromosome Location	chr5:147280377-147280378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10477355	0.86[ASN][1000 genomes]
rs11956228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11958481	0.86[ASN][1000 genomes]
rs17107413	0.86[ASN][1000 genomes]
rs17703848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1835968	0.86[ASN][1000 genomes]
rs2304067	0.86[ASN][1000 genomes]
rs28838279	0.80[EUR][1000 genomes]
rs58022905	0.80[EUR][1000 genomes]
rs6580507	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6862197	0.86[ASN][1000 genomes]
rs73263247	0.86[ASN][1000 genomes]
rs7706789	0.85[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147273000-147280600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:147273200-147280400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:147273400-147289000	Weak transcription	Left Ventricle	heart
4	chr5:147275600-147283200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:147276200-147280600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:147277400-147284800	Enhancers	NH-A	brain
7	chr5:147278400-147280400	Enhancers	Stomach Mucosa	stomach
8	chr5:147279000-147284800	Weak transcription	Osteobl	bone
9	chr5:147279200-147281000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:147279200-147281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:147279400-147280600	Weak transcription	Aorta	Aorta
12	chr5:147279600-147280600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:147279600-147283600	Weak transcription	HMEC	breast
14	chr5:147279800-147280600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:147279800-147281000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:147279800-147285200	Weak transcription	Hela-S3	cervix
17	chr5:147280200-147282600	Enhancers	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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