Variant report

Variant	rs12034005
Chromosome Location	chr1:79793035-79793036
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10158555	1.00[ASN][1000 genomes]
rs10489649	1.00[ASN][1000 genomes]
rs10874029	1.00[ASN][1000 genomes]
rs12023913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs12024442	1.00[ASN][1000 genomes]
rs12024774	1.00[ASN][1000 genomes]
rs12024949	1.00[ASN][1000 genomes]
rs12025007	0.94[ASN][1000 genomes]
rs12025109	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025146	1.00[ASN][1000 genomes]
rs12025643	1.00[ASN][1000 genomes]
rs12026006	0.94[ASN][1000 genomes]
rs12026857	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026909	0.94[ASN][1000 genomes]
rs12026964	0.91[ASN][1000 genomes]
rs12026969	1.00[ASN][1000 genomes]
rs12027492	0.93[ASN][1000 genomes]
rs12027821	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028115	0.94[ASN][1000 genomes]
rs12028685	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031186	1.00[ASN][1000 genomes]
rs12032517	1.00[ASN][1000 genomes]
rs12033889	1.00[ASN][1000 genomes]
rs12035431	1.00[ASN][1000 genomes]
rs12036705	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039920	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044503	0.94[ASN][1000 genomes]
rs12046684	0.94[ASN][1000 genomes]
rs12046976	0.94[ASN][1000 genomes]
rs12048398	0.94[ASN][1000 genomes]
rs12049507	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12077125	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12088382	1.00[ASN][1000 genomes]
rs1331715	1.00[ASN][1000 genomes]
rs1412140	0.93[ASN][1000 genomes]
rs28370400	1.00[ASN][1000 genomes]
rs5003964	1.00[ASN][1000 genomes]
rs72941396	0.94[ASN][1000 genomes]
rs72943004	0.83[ASN][1000 genomes]
rs72943084	1.00[ASN][1000 genomes]
rs72943085	1.00[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	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870962	chr1:79755185-79835066	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3364783	chr1:79786074-79815088	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3384616	chr1:79788134-79814492	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv830337	chr1:79791879-79913241	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12034005	CCL4	trans	brain	seeQTL
rs12034005	PTGS2	trans	brain	seeQTL
rs12034005	CCL3	trans	brain	seeQTL
rs12034005	EGR2	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79792400-79795800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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