Variant report

Variant	rs17619704
Chromosome Location	chr12:59402456-59402457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10735877	0.82[JPT][hapmap]
rs10783929	0.85[EUR][1000 genomes]
rs10783930	0.83[EUR][1000 genomes]
rs10877192	0.83[EUR][1000 genomes]
rs10877193	0.85[EUR][1000 genomes]
rs10877194	0.85[EUR][1000 genomes]
rs10877195	0.86[EUR][1000 genomes]
rs10877196	0.84[EUR][1000 genomes]
rs10877199	0.87[EUR][1000 genomes]
rs11172841	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11172843	0.85[EUR][1000 genomes]
rs11172850	0.85[EUR][1000 genomes]
rs11172851	0.85[EUR][1000 genomes]
rs11172863	0.87[EUR][1000 genomes]
rs11172865	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837281	0.85[EUR][1000 genomes]
rs1436666	0.85[EUR][1000 genomes]
rs4760147	0.83[EUR][1000 genomes]
rs4760249	0.85[EUR][1000 genomes]
rs4760252	0.82[EUR][1000 genomes]
rs59263143	0.90[AFR][1000 genomes]
rs61919468	0.85[EUR][1000 genomes]
rs61919473	0.85[EUR][1000 genomes]
rs6581225	0.85[EUR][1000 genomes]
rs7133207	0.85[EUR][1000 genomes]
rs718135	0.86[EUR][1000 genomes]
rs7300951	0.84[EUR][1000 genomes]
rs7302452	0.85[EUR][1000 genomes]
rs7306532	0.85[EUR][1000 genomes]
rs7955741	0.85[EUR][1000 genomes]
rs7961421	0.86[EUR][1000 genomes]
rs7963114	0.86[EUR][1000 genomes]
rs7979941	0.85[EUR][1000 genomes]
rs9668093	0.89[AFR][1000 genomes]
rs9668096	0.87[EUR][1000 genomes]
rs9669562	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559049	chr12:59359937-59436179	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1804108	chr12:59398014-59403387	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17619704	INHBC	cis	parietal	SCAN
rs17619704	MBD6	cis	cerebellum	SCAN
rs17619704	INHBE	cis	parietal	SCAN
rs17619704	PIP4K2C	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59399600-59408400	Weak transcription	Psoas Muscle	Psoas

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