Variant report

Variant	rs12543344
Chromosome Location	chr8:59441685-59441686
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59441549..59444066-chr8:59464694..59467418,3	K562	blood:

Variant related genes	Relation type
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10085973	0.82[JPT][hapmap]
rs10090425	0.82[JPT][hapmap]
rs10090964	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs10099153	0.82[JPT][hapmap]
rs10099912	0.82[JPT][hapmap]
rs10102709	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs10104292	0.81[JPT][hapmap]
rs10104568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111052	0.82[JPT][hapmap]
rs10111506	0.80[ASN][1000 genomes]
rs10113750	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs1023649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1023650	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1023651	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1023652	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10504256	0.82[JPT][hapmap]
rs1125226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11776003	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs11783174	0.82[JPT][hapmap]
rs12541539	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674568	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs12676593	0.82[JPT][hapmap]
rs12677290	0.81[JPT][hapmap]
rs12680996	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs13251066	0.95[CHB][hapmap]
rs13251096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13263039	0.95[EUR][1000 genomes]
rs1427162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1457042	0.86[CHB][hapmap]
rs1582824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16923562	0.80[ASN][1000 genomes]
rs16923564	0.80[ASN][1000 genomes]
rs1834733	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991359	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2634527	0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs28429491	0.80[ASN][1000 genomes]
rs28650441	0.81[ASN][1000 genomes]
rs3903445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4282557	0.81[JPT][hapmap]
rs4400367	0.82[JPT][hapmap]
rs4573256	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737501	0.92[EUR][1000 genomes]
rs4738687	0.85[CHB][hapmap]
rs4738690	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738691	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55774738	0.81[ASN][1000 genomes]
rs6471729	0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs6981601	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6984439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986129	0.80[ASN][1000 genomes]
rs6987187	0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7005296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7009248	0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7009374	0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7011095	0.82[JPT][hapmap]
rs7014398	0.80[ASN][1000 genomes]
rs7016868	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817515	0.81[ASN][1000 genomes]
rs7825996	0.81[JPT][hapmap]
rs7827910	0.81[JPT][hapmap]
rs7833904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297995	0.80[ASN][1000 genomes]
rs9297997	0.81[JPT][hapmap]
rs9297998	0.81[JPT][hapmap]

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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv6212	chr8:59435671-59451750	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59435400-59442400	Weak transcription	Gastric	stomach
2	chr8:59439600-59442000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:59439800-59442000	Weak transcription	Aorta	Aorta
4	chr8:59439800-59442000	Weak transcription	Left Ventricle	heart
5	chr8:59440400-59441800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:59440400-59465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:59440800-59442200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:59441200-59442800	Enhancers	Right Atrium	heart
9	chr8:59441200-59443000	Enhancers	Placenta	Placenta
10	chr8:59441200-59443400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:59441600-59442000	Enhancers	Fetal Heart	heart

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