Variant report

Variant	rs66514235
Chromosome Location	chr12:74678407-74678408
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1019690	0.97[ASN][1000 genomes]
rs1019692	0.97[ASN][1000 genomes]
rs1019693	0.97[ASN][1000 genomes]
rs1019694	0.97[ASN][1000 genomes]
rs10879749	0.97[ASN][1000 genomes]
rs10879759	0.88[ASN][1000 genomes]
rs11180007	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11180015	0.97[ASN][1000 genomes]
rs11180027	0.95[ASN][1000 genomes]
rs11180036	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11180049	0.88[ASN][1000 genomes]
rs11180057	0.83[ASN][1000 genomes]
rs11180063	0.83[ASN][1000 genomes]
rs11829422	0.88[ASN][1000 genomes]
rs11836857	0.94[ASN][1000 genomes]
rs12422910	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1346248	0.97[ASN][1000 genomes]
rs1365533	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1365534	0.97[ASN][1000 genomes]
rs1471296	0.83[ASN][1000 genomes]
rs17113224	0.94[ASN][1000 genomes]
rs17113335	0.97[ASN][1000 genomes]
rs1820497	1.00[ASN][1000 genomes]
rs1834669	1.00[ASN][1000 genomes]
rs2012003	0.97[ASN][1000 genomes]
rs2012005	0.97[ASN][1000 genomes]
rs2162395	0.97[ASN][1000 genomes]
rs2169290	0.83[ASN][1000 genomes]
rs2278189	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364868	0.91[EUR][1000 genomes]
rs4883488	0.94[ASN][1000 genomes]
rs4883489	0.94[ASN][1000 genomes]
rs66472931	0.97[ASN][1000 genomes]
rs66504708	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66512760	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs66661116	0.94[ASN][1000 genomes]
rs66756307	0.97[ASN][1000 genomes]
rs66955885	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs67027369	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67249120	0.97[ASN][1000 genomes]
rs67283194	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67436776	0.83[ASN][1000 genomes]
rs67452475	0.88[ASN][1000 genomes]
rs67619450	0.97[ASN][1000 genomes]
rs67630387	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67773463	0.97[ASN][1000 genomes]
rs68026423	0.97[ASN][1000 genomes]
rs68173977	0.97[ASN][1000 genomes]
rs72652864	0.97[ASN][1000 genomes]
rs72652865	0.97[ASN][1000 genomes]
rs7295476	1.00[ASN][1000 genomes]
rs7299438	0.88[ASN][1000 genomes]
rs7305709	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73182736	0.86[EUR][1000 genomes]
rs73182748	0.91[EUR][1000 genomes]
rs7398187	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv559396	chr12:74586210-74679054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv520257	chr12:74590356-74680999	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1047574	chr12:74599663-74687663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv469472	chr12:74651797-74690292	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv559411	chr12:74651797-74690292	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv899290	chr12:74666737-74729489	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv469473	chr12:74676381-74712896	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv559412	chr12:74676381-74712896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv3497363	chr12:74677995-74679907	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3497374	chr12:74677995-74679907	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv826437	chr12:74678108-74679673	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74676000-74679000	Weak transcription	HMEC	breast
2	chr12:74676200-74679200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:74678000-74678600	Genic enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links