Variant report

Variant	rs62052815
Chromosome Location	chr16:69561826-69561827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69561206..69567755-chr16:69595684..69602877,15	K562	blood:
2	chr16:69561256..69567897-chr16:69597498..69602280,7	MCF-7	breast:
3	chr16:69560207..69562252-chr16:69564012..69565719,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223109	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12599391	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12923231	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12924872	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12929503	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12933292	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13330951	0.91[ASN][1000 genomes]
rs1364063	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2032912	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs244418	0.83[EUR][1000 genomes]
rs35967356	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4783721	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4783722	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56096139	0.90[ASN][1000 genomes]
rs62052816	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs669696	0.82[EUR][1000 genomes]
rs889398	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs889399	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv906821	chr16:69509506-69576894	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69548200-69563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:69549600-69563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:69552400-69563200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:69555600-69562600	Weak transcription	Hela-S3	cervix
5	chr16:69555800-69563200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr16:69555800-69563600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:69556200-69563000	Weak transcription	NHEK	skin
8	chr16:69556200-69563200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:69556200-69563600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr16:69556800-69563200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:69558000-69562400	Weak transcription	Placenta	Placenta
12	chr16:69558600-69563600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:69561000-69564400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:69561200-69562600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr16:69561200-69563200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:69561200-69564400	Weak transcription	Spleen	Spleen
17	chr16:69561400-69562600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:69561400-69563000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:69561400-69563200	Weak transcription	HepG2	liver
20	chr16:69561400-69564000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:69561600-69562600	Weak transcription	A549	lung
22	chr16:69561600-69562600	Weak transcription	HSMMtube	muscle
23	chr16:69561600-69563200	Weak transcription	HSMM	muscle
24	chr16:69561600-69563600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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