Variant report

Variant	rs753786
Chromosome Location	chr8:10737163-10737164
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10734114..10739768-chr8:10740375..10743720,5	K562	blood:
2	chr8:10734850..10737559-chr8:10746687..10748784,2	K562	blood:
3	chr8:10736875..10738986-chr8:10748805..10751252,2	MCF-7	breast:
4	chr8:10735412..10737707-chr8:10739403..10741216,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11997941	1.00[ASN][1000 genomes]
rs12546540	1.00[ASN][1000 genomes]
rs13275368	1.00[ASN][1000 genomes]
rs1835492	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2033368	1.00[ASN][1000 genomes]
rs2409652	1.00[ASN][1000 genomes]
rs2409653	1.00[ASN][1000 genomes]
rs2409654	1.00[ASN][1000 genomes]
rs2409655	1.00[ASN][1000 genomes]
rs2409656	1.00[ASN][1000 genomes]
rs2409665	0.80[EUR][1000 genomes]
rs2409666	1.00[ASN][1000 genomes]
rs2898244	1.00[ASN][1000 genomes]
rs34535545	1.00[ASN][1000 genomes]
rs35873156	1.00[ASN][1000 genomes]
rs4310166	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60666967	1.00[ASN][1000 genomes]
rs61064518	1.00[ASN][1000 genomes]
rs6984171	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990041	1.00[ASN][1000 genomes]
rs6993753	1.00[ASN][1000 genomes]
rs73209946	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73209953	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73209954	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73662638	1.00[ASN][1000 genomes]
rs73662640	1.00[ASN][1000 genomes]
rs73662642	1.00[ASN][1000 genomes]
rs73662643	1.00[ASN][1000 genomes]
rs7814489	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers 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	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs753786	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10720800-10756200	Weak transcription	Pancreas	Pancrea
2	chr8:10734800-10737200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:10735200-10737600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:10735800-10737200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:10735800-10737400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:10736000-10737400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:10736000-10737400	Enhancers	Fetal Muscle Leg	muscle
8	chr8:10736400-10737200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10736400-10737400	Enhancers	Adipose Nuclei	Adipose
10	chr8:10736600-10737200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:10736800-10737200	Bivalent/Poised TSS	HSMMtube	muscle
12	chr8:10737000-10737400	Enhancers	Fetal Brain Male	brain

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