Variant report

Variant	rs302162
Chromosome Location	chr7:18327492-18327493
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	TEAD4	chr7:18327080-18327543	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr7:18327187-18327505	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr7:18327318-18327590	K562	blood:	n/a	chr7:18327506-18327515 chr7:18327505-18327516

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:18321787..18324563-chr7:18327488..18329360,2	K562	blood:

Variant related genes	Relation type
HDAC9	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10265242	0.82[ASN][1000 genomes]
rs10281630	0.83[ASN][1000 genomes]
rs111978	0.89[ASN][1000 genomes]
rs11769668	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1178311	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs1178315	0.81[ASN][1000 genomes]
rs1178316	0.81[ASN][1000 genomes]
rs13227027	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13232015	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16872006	0.85[EUR][1000 genomes]
rs17138794	0.82[ASN][1000 genomes]
rs17138914	0.94[JPT][hapmap]
rs17139047	0.82[EUR][1000 genomes]
rs17139048	0.82[EUR][1000 genomes]
rs17731618	0.85[EUR][1000 genomes]
rs302147	0.84[ASN][1000 genomes]
rs302148	0.85[ASN][1000 genomes]
rs302164	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs302165	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs302168	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs302173	0.89[ASN][1000 genomes]
rs302176	0.87[ASN][1000 genomes]
rs34060940	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34461394	0.82[ASN][1000 genomes]
rs35307869	0.82[ASN][1000 genomes]
rs366909	0.82[ASN][1000 genomes]
rs3737280	0.81[EUR][1000 genomes]
rs55744175	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56398383	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs583769	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs623532	0.90[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs62449144	0.81[EUR][1000 genomes]
rs62449148	0.80[AMR][1000 genomes]
rs62449149	0.80[AMR][1000 genomes]
rs624811	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs647270	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs679492	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs680882	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7457904	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv830914	chr7:18196730-18376047	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv830916	chr7:18254299-18433349	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv887811	chr7:18295790-18346230	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs302162	PRPS1L1	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18321600-18328600	Weak transcription	Fetal Heart	heart
2	chr7:18327200-18328400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr7:18327200-18329800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:18327200-18332000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:18327400-18328800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:18327400-18329200	Enhancers	Primary B cells from cord blood	blood

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