Variant report

Variant	rs7419327
Chromosome Location	chr2:187564652-187564653
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr2:187564630-187564923	HepG2	liver:	n/a	n/a
2	MAFK	chr2:187564637-187564845	IMR90	lung:	n/a	n/a
3	MAFK	chr2:187564633-187564923	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000227227	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10171481	0.80[CHB][hapmap]
rs10804007	0.85[CHB][hapmap]
rs11678190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11683898	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11685758	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12151442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12615659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12998294	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13001028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13006483	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs13006571	0.85[CHB][hapmap]
rs13016261	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13027560	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13028817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13030356	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13033579	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448424	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs17334303	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17334422	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17406339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1839121	0.81[ASN][1000 genomes]
rs1839123	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1839124	0.88[ASN][1000 genomes]
rs1992898	0.85[CHB][hapmap]
rs2084448	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2165656	0.80[CHB][hapmap]
rs2197138	0.85[CHB][hapmap]
rs2197787	0.84[CHB][hapmap]
rs2370693	0.85[CHB][hapmap]
rs2595375	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[EUR][1000 genomes]
rs2887827	0.85[CHB][hapmap]
rs34483988	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34521209	0.87[ASN][1000 genomes]
rs34980163	0.81[ASN][1000 genomes]
rs35055112	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35251833	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35986780	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36117902	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3768778	0.85[CHB][hapmap]
rs3768780	0.80[CHB][hapmap]
rs3816386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3911084	0.85[CHB][hapmap]
rs4233788	0.85[CHB][hapmap]
rs58644770	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6717512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6741369	0.85[CHB][hapmap]
rs6748509	0.81[ASN][1000 genomes]
rs7575516	0.81[ASN][1000 genomes]
rs7589470	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs7593018	0.93[CEU][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7596996	0.80[CHB][hapmap]
rs9333287	0.80[CHB][hapmap]
rs9333288	0.85[CHB][hapmap]
rs9333289	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs9789682	0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs998972	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:187560600-187566800	Weak transcription	Fetal Kidney	kidney
3	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
6	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:187561600-187566000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:187561800-187565800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:187562400-187565200	Enhancers	Brain Substantia Nigra	brain
10	chr2:187562800-187565000	Weak transcription	Fetal Brain Female	brain
11	chr2:187563000-187565400	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:187563000-187570200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:187563600-187564800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:187563600-187565000	Enhancers	Brain Hippocampus Middle	brain
15	chr2:187563600-187565000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:187563600-187565400	Enhancers	Brain Anterior Caudate	brain
17	chr2:187563600-187565400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:187563600-187570000	Weak transcription	Fetal Brain Male	brain
19	chr2:187564200-187570000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:187564600-187564800	Enhancers	Brain Angular Gyrus	brain
21	chr2:187564600-187565000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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