Variant report

Variant	rs7979125
Chromosome Location	chr12:30229583-30229584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10771624	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771631	0.84[AMR][1000 genomes]
rs10843594	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10843595	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10843596	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11830314	1.00[ASN][1000 genomes]
rs11832486	1.00[ASN][1000 genomes]
rs11833720	1.00[ASN][1000 genomes]
rs11833750	1.00[ASN][1000 genomes]
rs11837291	1.00[ASN][1000 genomes]
rs1319489	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101986	0.83[AMR][1000 genomes]
rs2351019	0.81[AMR][1000 genomes]
rs4930879	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930881	0.91[AFR][1000 genomes]
rs56177622	1.00[ASN][1000 genomes]
rs56746984	1.00[ASN][1000 genomes]
rs58614462	0.92[AFR][1000 genomes]
rs58821205	1.00[ASN][1000 genomes]
rs60755931	1.00[ASN][1000 genomes]
rs61212190	1.00[ASN][1000 genomes]
rs7138096	0.94[AFR][1000 genomes]
rs7298141	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300239	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7300353	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7306144	0.96[AFR][1000 genomes]
rs7307772	0.91[AFR][1000 genomes]
rs73089163	1.00[ASN][1000 genomes]
rs73089164	1.00[ASN][1000 genomes]
rs73089172	1.00[ASN][1000 genomes]
rs73089173	1.00[ASN][1000 genomes]
rs73089175	1.00[ASN][1000 genomes]
rs73089181	1.00[ASN][1000 genomes]
rs73287791	0.88[AFR][1000 genomes]
rs73287801	0.88[AFR][1000 genomes]
rs73287802	0.94[AFR][1000 genomes]
rs7953845	1.00[ASN][1000 genomes]
rs7959152	0.88[EUR][1000 genomes]
rs7968310	0.98[AFR][1000 genomes];0.88[EUR][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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv557977	chr12:30224990-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
6	nsv557978	chr12:30228188-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv557979	chr12:30228467-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv557980	chr12:30229583-30243473	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7979125	CSDAP1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30223000-30234200	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links