Variant report

Variant	rs12097591
Chromosome Location	chr1:228389804-228389805
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	chr1:228362964..228365740-chr1:228389422..228392205,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1059778	0.80[EUR][1000 genomes]
rs10753445	0.81[EUR][1000 genomes]
rs10916271	0.80[EUR][1000 genomes]
rs10916277	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12084338	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12130630	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12134624	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1411911	0.88[EUR][1000 genomes]
rs1557026	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17623766	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17640616	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2185544	0.81[EUR][1000 genomes]
rs2298014	0.91[EUR][1000 genomes]
rs2313600	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4653907	0.90[EUR][1000 genomes]
rs4653917	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4653919	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4653920	0.95[EUR][1000 genomes]
rs4653921	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55658545	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55873533	0.90[EUR][1000 genomes]
rs61825279	0.85[EUR][1000 genomes]
rs6426492	0.82[EUR][1000 genomes]
rs6657968	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6661539	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6673893	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6682260	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72757811	0.93[EUR][1000 genomes]
rs72757812	0.93[EUR][1000 genomes]
rs72757824	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72757827	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72757829	0.92[EUR][1000 genomes]
rs7532141	0.87[EUR][1000 genomes]
rs7532924	0.80[EUR][1000 genomes]
rs7539762	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	esv1808523	chr1:228359177-228400358	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12097591	OBSCN	cis	Skin Sun Exposed Lower leg	GTEx
rs12097591	OBSCN	cis	Esophagus Mucosa	GTEx
rs12097591	IBA57	cis	Whole Blood	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228366800-228393400	Weak transcription	Right Ventricle	heart
2	chr1:228373800-228394000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:228382600-228393000	Weak transcription	Colonic Mucosa	Colon
4	chr1:228383200-228394600	Weak transcription	Fetal Brain Male	brain
5	chr1:228385600-228392800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:228385600-228393400	Weak transcription	Left Ventricle	heart
7	chr1:228387400-228393600	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:228387600-228393200	Weak transcription	Fetal Heart	heart
9	chr1:228388000-228393600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:228388400-228391600	Weak transcription	Primary T cells from cord blood	blood
11	chr1:228388400-228392200	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:228388400-228393800	Weak transcription	Liver	Liver
13	chr1:228388600-228392800	Weak transcription	Spleen	Spleen
14	chr1:228389200-228390000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:228389400-228392800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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