Variant report

Variant	rs34645246
Chromosome Location	chr5:52623091-52623092
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	chr5:52615325..52617809-chr5:52621460..52624142,2	MCF-7	breast:
2	chr5:52622570..52624504-chr5:52626467..52629222,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13153694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13156370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13158674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13159322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13171311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13179965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13180278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16881303	1.00[EUR][1000 genomes]
rs34779217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34951553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34953700	1.00[EUR][1000 genomes]
rs35159810	1.00[AMR][1000 genomes]
rs35285333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35384598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35412043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35689181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71619950	1.00[EUR][1000 genomes]
rs71633452	1.00[AMR][1000 genomes]
rs71633454	1.00[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	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	nsv1020388	chr5:52607736-52637122	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1016368	chr5:52607736-52640986	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52614200-52623400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52614200-52624400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:52614200-52624400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:52614200-52624400	Enhancers	HMEC	breast
5	chr5:52616000-52624200	Enhancers	NHDF-Ad	bronchial
6	chr5:52620200-52624200	Enhancers	NHEK	skin
7	chr5:52620200-52633600	Weak transcription	Esophagus	oesophagus
8	chr5:52620800-52623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:52620800-52626600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:52620800-52627400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:52621800-52623200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:52622600-52626000	Weak transcription	NHLF	lung
13	chr5:52622600-52627200	Weak transcription	HSMMtube	muscle
14	chr5:52622600-52627400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:52622800-52624200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:52622800-52626400	Weak transcription	Adipose Nuclei	Adipose
17	chr5:52622800-52629000	Weak transcription	Aorta	Aorta
18	chr5:52623000-52623400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:52623000-52623600	Weak transcription	Osteobl	bone
20	chr5:52623000-52626400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:52623000-52626800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:52623000-52627200	Weak transcription	Hela-S3	cervix

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