Variant report

Variant	rs62338254
Chromosome Location	chr5:5291426-5291427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5288956..5291739-chr5:5293671..5295239,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10045494	0.81[ASN][1000 genomes]
rs11134102	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11134105	0.89[ASN][1000 genomes]
rs11134110	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11745231	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2913670	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2964389	0.96[AMR][1000 genomes]
rs4701698	0.94[ASN][1000 genomes]
rs59338680	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6555341	0.94[ASN][1000 genomes]
rs6555343	0.94[ASN][1000 genomes]
rs6555344	0.94[ASN][1000 genomes]
rs966680	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs966681	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5272400-5298400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:5289400-5292200	Enhancers	NH-A	brain
3	chr5:5289400-5292600	Weak transcription	Hela-S3	cervix
4	chr5:5290000-5292000	Enhancers	HSMMtube	muscle
5	chr5:5290800-5291800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:5291000-5291800	Enhancers	HMEC	breast
7	chr5:5291000-5292200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:5291000-5292400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:5291000-5292400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:5291000-5297200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:5291200-5291600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:5291200-5292000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:5291200-5292000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:5291400-5291600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:5291400-5291600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:5291400-5291600	Enhancers	Spleen	Spleen
17	chr5:5291400-5291600	Enhancers	NHEK	skin
18	chr5:5291400-5291800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:5291400-5291800	Enhancers	Left Ventricle	heart
20	chr5:5291400-5292000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:5291400-5292000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:5291400-5292000	Enhancers	Adipose Nuclei	Adipose
23	chr5:5291400-5292000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:5291400-5292000	Enhancers	HSMM	muscle
25	chr5:5291400-5292200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:5291400-5292200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:5291400-5292200	Enhancers	Ovary	ovary
28	chr5:5291400-5292200	Enhancers	Osteobl	bone
29	chr5:5291400-5292400	Enhancers	Liver	Liver

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