Variant report

Variant	rs8050765
Chromosome Location	chr16:75233026-75233027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75231754..75233579-chr16:75584595..75587243,2	MCF-7	breast:
2	chr16:75232238..75233902-chr16:75497812..75499223,14	MCF-7	breast:
3	chr16:75182384..75183899-chr16:75231105..75233617,2	MCF-7	breast:
4	chr16:75232850..75233421-chr16:75498514..75499183,2	MCF-7	breast:
5	chr16:74846710..74847551-chr16:75232890..75233892,3	K562	blood:
6	chr16:75232865..75233890-chr16:75436616..75437597,5	MCF-7	breast:
7	chr16:75232891..75233814-chr16:75498324..75499206,2	K562	blood:
8	chr16:75232865..75233595-chr16:75419565..75420240,4	K562	blood:
9	chr16:75232930..75233869-chr16:75267627..75268399,2	MCF-7	breast:
10	chr16:75221442..75223810-chr16:75231803..75233411,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261717	Chromatin interaction
ENSG00000184517	Chromatin interaction
ENSG00000166822	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1019539	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10871304	0.84[EUR][1000 genomes]
rs12918452	0.81[EUR][1000 genomes]
rs1559361	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2870466	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2870467	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4479268	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4737	0.81[EUR][1000 genomes]
rs4887808	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4888355	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4888356	0.83[ASN][1000 genomes]
rs6564220	0.83[EUR][1000 genomes]
rs6564221	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564222	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564223	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7205074	0.83[EUR][1000 genomes]
rs8046665	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8053265	0.84[EUR][1000 genomes]
rs8055472	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8057843	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9921632	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75232200-75235200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:75232400-75233400	Weak transcription	Fetal Heart	heart
3	chr16:75232400-75235200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:75232400-75237600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:75232400-75237600	Weak transcription	Pancreas	Pancrea
6	chr16:75232600-75240400	Weak transcription	HSMMtube	muscle
7	chr16:75232800-75233200	Weak transcription	NHLF	lung
8	chr16:75232800-75234600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:75233000-75233200	Flanking Active TSS	Placenta	Placenta
10	chr16:75233000-75233200	Weak transcription	A549	lung
11	chr16:75233000-75233800	Enhancers	HepG2	liver

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