Variant report

Variant	rs2465377
Chromosome Location	chr8:120190410-120190411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120189628..120192008-chr8:120202679..120205401,2	MCF-7	breast:
2	chr8:120189742..120191950-chr8:120219978..120223214,4	MCF-7	breast:
3	chr8:120183937..120185450-chr8:120190160..120192136,2	MCF-7	breast:
4	chr8:120187989..120192991-chr8:120219405..120223053,6	MCF-7	breast:
5	chr8:120190214..120190832-chr8:120238280..120238804,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10096921	0.92[ASN][1000 genomes]
rs10113336	0.92[ASN][1000 genomes]
rs11777125	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11992453	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13252588	0.88[ASN][1000 genomes]
rs1364708	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425052	0.89[ASN][1000 genomes]
rs1425053	0.92[ASN][1000 genomes]
rs1485291	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1541726	0.89[ASN][1000 genomes]
rs1549415	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1905774	0.84[EUR][1000 genomes]
rs2326222	0.92[ASN][1000 genomes]
rs2450060	0.90[EUR][1000 genomes]
rs2450063	0.84[EUR][1000 genomes]
rs2450075	0.84[EUR][1000 genomes]
rs2450077	0.84[EUR][1000 genomes]
rs2450079	0.84[EUR][1000 genomes]
rs2450081	0.81[EUR][1000 genomes]
rs2465370	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2465372	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2465373	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465386	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2465388	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2465389	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2465397	0.82[EUR][1000 genomes]
rs2468167	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2468169	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2468171	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2468172	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2468173	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2468175	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2468184	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2468186	0.92[ASN][1000 genomes]
rs4279627	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4870897	0.88[ASN][1000 genomes]
rs6469813	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6469816	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6991747	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7000127	0.89[ASN][1000 genomes]
rs7000278	0.89[ASN][1000 genomes]
rs7386676	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9650076	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9656931	0.91[ASN][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120189200-120191000	Enhancers	Adipose Nuclei	Adipose
2	chr8:120189800-120190800	Enhancers	Fetal Intestine Large	intestine
3	chr8:120189800-120190800	Weak transcription	Fetal Lung	lung
4	chr8:120190000-120191000	Enhancers	Duodenum Mucosa	Duodenum
5	chr8:120190000-120191000	Weak transcription	Fetal Heart	heart
6	chr8:120190000-120191800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:120190000-120192200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:120190000-120193200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:120190200-120190600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:120190200-120190600	Weak transcription	Colonic Mucosa	Colon
11	chr8:120190200-120190600	Weak transcription	HMEC	breast
12	chr8:120190200-120190800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:120190200-120190800	Enhancers	Hela-S3	cervix
14	chr8:120190200-120192000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr8:120190200-120192200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:120190200-120192400	Enhancers	NHEK	skin

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