Variant report

Variant	rs73754209
Chromosome Location	chr5:52624363-52624364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52622570..52624504-chr5:52626467..52629222,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10055035	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10471379	0.82[ASN][1000 genomes]
rs12658752	0.82[ASN][1000 genomes]
rs153128	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs251523	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs251526	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs252036	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs252037	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs252039	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs252046	0.83[ASN][1000 genomes]
rs28088	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs37775	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37779	0.88[ASN][1000 genomes]
rs37781	0.82[ASN][1000 genomes]
rs37782	0.84[ASN][1000 genomes]
rs37784	0.85[ASN][1000 genomes]
rs38049	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs38057	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38059	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs40229	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs420035	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs607480	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52614200-52624400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:52614200-52624400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:52614200-52624400	Enhancers	HMEC	breast
4	chr5:52620200-52633600	Weak transcription	Esophagus	oesophagus
5	chr5:52620800-52626600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:52620800-52627400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:52622600-52626000	Weak transcription	NHLF	lung
8	chr5:52622600-52627200	Weak transcription	HSMMtube	muscle
9	chr5:52622600-52627400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:52622800-52626400	Weak transcription	Adipose Nuclei	Adipose
11	chr5:52622800-52629000	Weak transcription	Aorta	Aorta
12	chr5:52623000-52626400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:52623000-52626800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:52623000-52627200	Weak transcription	Hela-S3	cervix
15	chr5:52623400-52624400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:52623400-52626400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:52623800-52624600	Enhancers	HUVEC	blood vessel
18	chr5:52624000-52629200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:52624200-52626200	Weak transcription	NHDF-Ad	bronchial
20	chr5:52624200-52626200	ZNF genes & repeats	NHEK	skin
21	chr5:52624200-52626400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:52624200-52626800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:52624200-52626800	Weak transcription	Osteobl	bone

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