Variant report

Variant	rs2169290
Chromosome Location	chr12:74804913-74804914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74799398..74801033-chr12:74804670..74806463,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1019690	0.85[ASN][1000 genomes]
rs1019692	0.85[ASN][1000 genomes]
rs1019693	0.85[ASN][1000 genomes]
rs1019694	0.85[ASN][1000 genomes]
rs10879749	0.85[ASN][1000 genomes]
rs10879759	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10879779	0.89[ASN][1000 genomes]
rs11180015	0.85[ASN][1000 genomes]
rs11180027	0.84[ASN][1000 genomes]
rs11180036	0.84[ASN][1000 genomes]
rs11180049	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11180057	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180063	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608849	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11829422	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12422910	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1346248	0.85[ASN][1000 genomes]
rs1365533	0.85[ASN][1000 genomes]
rs1365534	0.85[ASN][1000 genomes]
rs1471296	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113335	0.85[ASN][1000 genomes]
rs1820497	0.81[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs1824540	0.89[ASN][1000 genomes]
rs1834669	0.83[ASN][1000 genomes]
rs2012003	0.85[ASN][1000 genomes]
rs2012005	0.85[ASN][1000 genomes]
rs2162395	0.85[ASN][1000 genomes]
rs2278189	0.81[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs66472931	0.85[ASN][1000 genomes]
rs66504708	0.81[ASN][1000 genomes]
rs66512760	0.85[ASN][1000 genomes]
rs66514235	0.83[ASN][1000 genomes]
rs66671338	0.96[ASN][1000 genomes]
rs66756307	0.85[ASN][1000 genomes]
rs67249120	0.85[ASN][1000 genomes]
rs67436776	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67452475	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67619450	0.85[ASN][1000 genomes]
rs67773463	0.85[ASN][1000 genomes]
rs68026423	0.85[ASN][1000 genomes]
rs68173977	0.85[ASN][1000 genomes]
rs72652864	0.85[ASN][1000 genomes]
rs72652865	0.85[ASN][1000 genomes]
rs7295476	0.83[ASN][1000 genomes]
rs7299438	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7305709	0.84[ASN][1000 genomes]
rs7398187	0.84[ASN][1000 genomes]
rs965780	0.96[ASN][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	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	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv983440	chr12:74798518-74823611	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74796600-74807200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:74796600-74807400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:74798200-74806200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:74800600-74807400	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:74802200-74805000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:74802800-74806400	Weak transcription	A549	lung
7	chr12:74803200-74806200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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