Variant report

Variant	rs12474907
Chromosome Location	chr2:111585306-111585307
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	chr2:111575287..111578070-chr2:111583930..111586052,2	K562	blood:
2	chr2:111582825..111585419-chr2:111784404..111786190,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12464663	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs13388313	1.00[CEU][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13421709	0.92[EUR][1000 genomes]
rs13426054	1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17041539	1.00[CEU][hapmap]
rs17041553	1.00[CEU][hapmap]
rs17041554	1.00[CEU][hapmap]
rs17041555	1.00[CEU][hapmap]
rs17041561	1.00[CEU][hapmap]
rs2037039	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs34026418	1.00[CEU][hapmap]
rs3817265	1.00[CEU][hapmap]
rs6728168	0.92[EUR][1000 genomes]
rs6752335	0.80[EUR][1000 genomes]
rs68130860	0.92[EUR][1000 genomes]
rs72828847	0.92[EUR][1000 genomes]
rs72828848	0.92[EUR][1000 genomes]
rs72828850	0.92[EUR][1000 genomes]
rs7592058	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs977406	1.00[CEU][hapmap]
rs981196	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12474907	AC013268.5	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111562800-111604000	Weak transcription	Lung	lung
2	chr2:111569800-111590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:111579200-111590600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:111582000-111587000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:111582000-111591000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:111582200-111590800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:111582800-111590600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:111584400-111585400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:111584400-111585800	Enhancers	Primary T cells from cord blood	blood
10	chr2:111584400-111585800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:111584400-111585800	Enhancers	Fetal Thymus	thymus
12	chr2:111584400-111586000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:111584400-111586200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:111584400-111587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:111584800-111585400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:111584800-111585600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:111585000-111585400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:111585200-111587400	Enhancers	Dnd41	blood

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