Variant report

Variant	rs12135189
Chromosome Location	chr1:57777982-57777983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11207002	1.00[CHB][hapmap]
rs11207005	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1149628	0.95[CHB][hapmap]
rs11587719	0.96[CHB][hapmap]
rs1811699	0.95[CHB][hapmap]
rs1811700	1.00[CHB][hapmap]
rs197627	0.95[CHB][hapmap]
rs197643	0.96[CHB][hapmap]
rs197647	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs197650	0.95[CHB][hapmap]
rs1991093	0.81[ASN][1000 genomes]
rs2432690	0.96[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2656095	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2764664	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs501921	0.81[ASN][1000 genomes]
rs501970	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs508389	0.80[ASN][1000 genomes]
rs511707	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs545582	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs545671	0.90[ASN][1000 genomes]
rs561531	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs576038	0.90[ASN][1000 genomes]
rs581886	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs595513	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs610360	0.81[ASN][1000 genomes]
rs611606	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs622423	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs632935	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs634391	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs637379	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs642526	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs643382	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs648607	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs659069	0.87[CHB][hapmap]
rs674966	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs680197	0.81[ASN][1000 genomes]
rs7529737	1.00[CHB][hapmap]
rs833626	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs924850	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3526924	chr1:57777845-57778078	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
4	esv3526923	chr1:57777914-57778229	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57773000-57778400	Weak transcription	Brain Angular Gyrus	brain
2	chr1:57773200-57790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:57775600-57779800	Enhancers	Fetal Intestine Large	intestine
4	chr1:57775600-57779800	Enhancers	Fetal Intestine Small	intestine
5	chr1:57776600-57790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:57777400-57779000	Weak transcription	HepG2	liver

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