Variant report

Variant	rs60886924
Chromosome Location	chr15:77948270-77948271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr15:77948175-77948330	HepG2	liver:	n/a	chr15:77948267-77948278
2	USF1	chr15:77948217-77948351	HepG2	liver:	n/a	chr15:77948267-77948278

No.	Distal block	Cell Line	Cell type
1	chr15:77930274..77931928-chr15:77947580..77949219,2	K562	blood:
2	chr15:77936287..77939462-chr15:77945698..77948508,3	K562	blood:
3	chr15:77927525..77929710-chr15:77946068..77948764,2	K562	blood:
4	chr15:77947666..77949447-chr15:77950293..77952601,2	MCF-7	breast:
5	chr15:77947545..77949495-chr15:77949738..77952290,2	K562	blood:

Variant related genes	Relation type
ENSG00000259281	TF binding region
ENSG00000259666	Chromatin interaction
ENSG00000259281	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11630768	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11633639	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11634778	0.99[ASN][1000 genomes]
rs11635239	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11638318	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11855155	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13329256	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13329323	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16969027	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292415	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292416	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292417	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28374408	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28503184	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28515899	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56717248	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56941158	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73457842	0.81[EUR][1000 genomes]
rs73457843	0.81[EUR][1000 genomes]
rs74025333	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74025334	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74025342	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74025352	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026671	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8028788	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9652488	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9806280	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9972481	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][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	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv904416	chr15:77845959-77967416	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv904418	chr15:77851535-77963887	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77943200-77951800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:77946800-77948400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:77947000-77951000	Weak transcription	Fetal Intestine Small	intestine
4	chr15:77947000-77965200	Enhancers	Fetal Brain Male	brain
5	chr15:77947200-77948400	Enhancers	Fetal Brain Female	brain
6	chr15:77947200-77949800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:77947400-77949200	Bivalent Enhancer	Placenta	Placenta
8	chr15:77947400-77950800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr15:77947400-77951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:77947800-77948400	Enhancers	Brain Anterior Caudate	brain
11	chr15:77947800-77951000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:77948000-77948800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:77948000-77949000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:77948000-77949000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:77948200-77948800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:77948200-77948800	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr15:77948200-77948800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr15:77948200-77949000	Enhancers	Primary hematopoietic stem cells	blood
19	chr15:77948200-77949000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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