Variant report

Variant	rs4238081
Chromosome Location	chr12:41621721-41621722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41615335..41618133-chr12:41621079..41623279,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10748267	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10879831	0.88[ASN][1000 genomes]
rs10879858	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10879867	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12829840	0.85[ASN][1000 genomes]
rs1431104	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1431110	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1431112	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1461094	0.81[EUR][1000 genomes]
rs1527086	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1864611	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1864613	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2163416	0.87[ASN][1000 genomes]
rs3847980	0.81[EUR][1000 genomes]
rs3847981	0.81[EUR][1000 genomes]
rs3858726	0.81[EUR][1000 genomes]
rs4767999	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768334	0.90[ASN][1000 genomes]
rs6582240	0.82[EUR][1000 genomes]
rs7303285	0.81[EUR][1000 genomes]
rs7305919	0.91[ASN][1000 genomes]
rs7954881	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7963760	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs975602	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1441614	chr12:41621716-41621722	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv47974	chr12:41621721-41621721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41611800-41625200	Weak transcription	Aorta	Aorta
2	chr12:41616000-41623200	Weak transcription	Ovary	ovary
3	chr12:41616200-41623000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41621000-41625400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:41621200-41622200	Enhancers	Primary B cells from cord blood	blood
6	chr12:41621200-41622200	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:41621400-41622000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:41621400-41622200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:41621600-41622000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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