Variant report

Variant	rs12999068
Chromosome Location	chr2:7344244-7344245
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	chr2:7343803..7345946-chr2:7353674..7355388,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10929471	0.87[ASN][1000 genomes]
rs10929472	0.80[ASN][1000 genomes]
rs10929473	0.85[ASN][1000 genomes]
rs10929474	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11676725	0.81[ASN][1000 genomes]
rs11680346	0.83[ASN][1000 genomes]
rs11682417	0.86[ASN][1000 genomes]
rs11687207	0.81[ASN][1000 genomes]
rs12612059	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12619070	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13002545	0.80[ASN][1000 genomes]
rs13013964	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1404845	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1464879	0.81[ASN][1000 genomes]
rs1464880	0.99[ASN][1000 genomes]
rs1473655	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1473656	0.81[ASN][1000 genomes]
rs1525490	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1525491	0.81[ASN][1000 genomes]
rs1525492	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1581562	0.81[ASN][1000 genomes]
rs16866007	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866008	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866010	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1880605	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1917675	0.81[ASN][1000 genomes]
rs1917676	0.81[ASN][1000 genomes]
rs1917677	0.81[ASN][1000 genomes]
rs1917678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325684	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36034588	0.81[ASN][1000 genomes]
rs4233854	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4265983	0.94[ASN][1000 genomes]
rs4356635	0.81[ASN][1000 genomes]
rs4362529	0.81[ASN][1000 genomes]
rs4362530	0.81[ASN][1000 genomes]
rs4668531	0.86[ASN][1000 genomes]
rs4669153	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669154	0.83[ASN][1000 genomes]
rs4669155	0.83[ASN][1000 genomes]
rs4669156	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669157	0.85[ASN][1000 genomes]
rs4669158	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669162	0.81[ASN][1000 genomes]
rs4669163	0.82[ASN][1000 genomes]
rs4669164	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4669169	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55869666	0.92[ASN][1000 genomes]
rs55914055	0.82[ASN][1000 genomes]
rs6739202	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7559257	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870863	0.81[ASN][1000 genomes]
rs872442	0.94[ASN][1000 genomes]
rs960793	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1000136	chr2:7337270-7379211	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv833337	chr2:7337273-7521146	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7341200-7344400	Enhancers	Fetal Brain Male	brain
2	chr2:7342400-7349600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:7343200-7348800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:7343200-7349200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:7343600-7348200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:7344000-7344400	Enhancers	Fetal Kidney	kidney

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