Variant report

Variant	rs4865766
Chromosome Location	chr5:52659092-52659093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52653991..52656439-chr5:52656965..52659829,2	MCF-7	breast:
2	chr5:52642800..52645145-chr5:52658314..52660881,2	K562	blood:
3	chr5:52655792..52658263-chr5:52658603..52660389,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12188879	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs252045	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37780	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs37794	0.81[EUR][1000 genomes]
rs37796	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42970	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4541613	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4865765	0.82[EUR][1000 genomes]
rs4865767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865769	1.00[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv508356	chr5:52646168-52703120	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52654200-52662800	Enhancers	NHDF-Ad	bronchial
2	chr5:52654600-52660600	Enhancers	HSMM	muscle
3	chr5:52654600-52660800	Enhancers	Hela-S3	cervix
4	chr5:52654600-52660800	Enhancers	HMEC	breast
5	chr5:52654600-52662600	Enhancers	Osteobl	bone
6	chr5:52655000-52659800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:52655000-52662000	Enhancers	NHEK	skin
8	chr5:52655400-52661000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:52655600-52659200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:52656400-52659600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:52656600-52660000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:52656600-52662600	Enhancers	HUVEC	blood vessel
13	chr5:52657800-52659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:52657800-52661000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:52658200-52659200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:52658200-52660200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:52658400-52659200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:52658400-52659200	Weak transcription	NH-A	brain
19	chr5:52659000-52659800	Flanking Active TSS	A549	lung
20	chr5:52659000-52660600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:52659000-52661800	Enhancers	NHLF	lung
22	chr5:52659000-52662000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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