Variant report

Variant	rs7168761
Chromosome Location	chr15:34506218-34506219
allele	A/G
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	SIN3A	chr15:34506032-34506866	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr15:34506187-34506696	H1-hESC	embryonic stem cell:	n/a	chr15:34506546-34506557
3	POU5F1	chr15:34506183-34506711	H1-hESC	embryonic stem cell:	n/a	chr15:34506444-34506458 chr15:34506443-34506457 chr15:34506497-34506511
4	ZNF143	chr15:34506039-34506841	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr15:34506136-34506834	H1-hESC	embryonic stem cell:	n/a	chr15:34506412-34506422 chr15:34506411-34506423 chr15:34506546-34506555 chr15:34506542-34506556 chr15:34506412-34506421 chr15:34506411-34506423 chr15:34506545-34506557
6	MAX	chr15:34506032-34506749	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:34500965..34503586-chr15:34505222..34506873,2	K562	blood:
2	chr15:34402294..34404744-chr15:34506028..34509076,3	MCF-7	breast:
3	chr15:34505937..34506527-chr15:34659469..34660347,2	MCF-7	breast:
4	chr15:34504430..34506466-chr15:34515218..34517671,3	K562	blood:

Variant related genes	Relation type
KATNBL1	TF binding region
ENSG00000128463	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000176454	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10851952	0.88[CHD][hapmap]
rs10851955	0.85[ASN][1000 genomes]
rs11073019	0.82[ASN][1000 genomes]
rs1133154	0.88[CHD][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap]
rs11636442	0.80[CHD][hapmap]
rs11858408	0.82[ASN][1000 genomes]
rs12050753	0.84[CHB][hapmap];0.88[CHD][hapmap]
rs12437551	0.88[CHD][hapmap]
rs12442758	0.83[ASN][1000 genomes]
rs12592460	0.96[ASN][1000 genomes]
rs16958835	0.92[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap]
rs16958836	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs16958878	0.84[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.91[TSI][hapmap]
rs17236777	0.84[CHB][hapmap];0.88[CHD][hapmap]
rs17236784	0.88[CHD][hapmap]
rs17236798	0.84[CHB][hapmap]
rs17817806	0.84[CHB][hapmap];0.91[CHD][hapmap]
rs2244040	0.84[CHB][hapmap];0.91[CHD][hapmap]
rs2290940	0.84[CHB][hapmap];0.91[CHD][hapmap]
rs2290941	0.84[CHB][hapmap];0.91[CHD][hapmap]
rs2290942	0.84[CHB][hapmap];0.91[CHD][hapmap]
rs28375867	0.94[ASN][1000 genomes]
rs28418847	0.94[ASN][1000 genomes]
rs28652966	0.81[ASN][1000 genomes]
rs34187931	0.94[ASN][1000 genomes]
rs4238572	0.83[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.91[TSI][hapmap]
rs4381574	0.82[ASN][1000 genomes]
rs4530104	0.85[CHD][hapmap]
rs4780227	0.84[ASN][1000 genomes]
rs4780229	0.83[ASN][1000 genomes]
rs57626952	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57834992	0.94[ASN][1000 genomes]
rs60905714	0.94[ASN][1000 genomes]
rs61054243	0.86[ASN][1000 genomes]
rs6495619	0.91[ASN][1000 genomes]
rs6495620	0.90[ASN][1000 genomes]
rs6495621	0.93[ASN][1000 genomes]
rs6495625	0.95[ASN][1000 genomes]
rs6495639	0.84[JPT][hapmap]
rs6495646	0.84[CHB][hapmap]
rs7168619	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7173618	0.94[ASN][1000 genomes]
rs7174014	0.91[ASN][1000 genomes]
rs7174442	0.83[CHD][hapmap]
rs7178002	0.92[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7178203	0.83[CHD][hapmap]
rs7180024	0.94[ASN][1000 genomes]
rs7180920	0.96[ASN][1000 genomes]
rs7181687	0.82[CHD][hapmap]
rs73380107	0.90[ASN][1000 genomes]
rs73380126	0.94[ASN][1000 genomes]
rs73380135	0.94[ASN][1000 genomes]
rs73380141	0.94[ASN][1000 genomes]
rs73380157	0.94[ASN][1000 genomes]
rs8025406	0.80[CHD][hapmap]
rs8026939	0.81[ASN][1000 genomes]
rs8035954	0.88[CHD][hapmap]
rs8036468	0.94[CHD][hapmap];0.83[ASN][1000 genomes]
rs8040071	0.92[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.95[ASN][1000 genomes]
rs8040732	0.81[CHD][hapmap]
rs8041586	0.90[ASN][1000 genomes]
rs9920902	0.81[ASN][1000 genomes]
rs9944206	0.94[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	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs7168761	NOP10	cis	parietal	SCAN
rs7168761	NOP10	cis	Nerve Tibial	GTEx
rs7168761	NOP10	cis	cerebellum	SCAN
rs7168761	TMEM85	cis	parietal	SCAN
rs7168761	NOP10	cis	Artery Tibial	GTEx
rs7168761	SLC12A6	cis	Thyroid	GTEx
rs7168761	NOP10	cis	Thyroid	GTEx
rs7168761	TMEM85	cis	cerebellum	SCAN
rs7168761	NOP10	cis	Esophagus Muscularis	GTEx
rs7168761	NOP10	cis	Muscle Skeletal	GTEx
rs7168761	NOLA3	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34502600-34510000	Weak transcription	NHLF	lung
2	chr15:34503600-34506600	Weak transcription	K562	blood
3	chr15:34504600-34506400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr15:34504600-34507200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr15:34504800-34506400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr15:34505000-34510200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:34506000-34507000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr15:34506000-34507000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:34506000-34507200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr15:34506000-34507200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr15:34506200-34506400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:34506200-34506600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:34506200-34506800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:34506200-34507200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr15:34506200-34507200	Enhancers	Fetal Thymus	thymus

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