Variant report

Variant	rs12083219
Chromosome Location	chr1:210394928-210394929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210394278..210396028-chr1:210405526..210407916,2	MCF-7	breast:
2	chr1:210394665..210397584-chr1:210404970..210407618,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10489346	1.00[AFR][1000 genomes]
rs10779520	1.00[AFR][1000 genomes]
rs10779521	1.00[AFR][1000 genomes]
rs10863806	1.00[AFR][1000 genomes]
rs10863809	1.00[AFR][1000 genomes]
rs10863814	1.00[AFR][1000 genomes]
rs11119391	1.00[AFR][1000 genomes]
rs11119394	1.00[AFR][1000 genomes]
rs11119398	1.00[AFR][1000 genomes]
rs11119417	1.00[AFR][1000 genomes]
rs11119433	1.00[AFR][1000 genomes]
rs11119434	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11119442	1.00[AFR][1000 genomes]
rs11119445	0.93[AMR][1000 genomes]
rs12057832	1.00[AFR][1000 genomes]
rs12059828	1.00[AFR][1000 genomes]
rs12061641	1.00[AFR][1000 genomes]
rs12065575	1.00[AFR][1000 genomes]
rs12066358	1.00[AFR][1000 genomes]
rs12067807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12073617	1.00[AFR][1000 genomes]
rs12088422	1.00[AFR][1000 genomes]
rs12089327	1.00[AFR][1000 genomes]
rs12089449	1.00[AFR][1000 genomes]
rs12094309	1.00[AFR][1000 genomes]
rs12401574	1.00[AFR][1000 genomes]
rs12403002	1.00[AFR][1000 genomes]
rs12403098	1.00[AFR][1000 genomes]
rs12406136	1.00[AFR][1000 genomes]
rs12409047	1.00[AFR][1000 genomes]
rs12409060	1.00[AFR][1000 genomes]
rs12565072	1.00[AFR][1000 genomes]
rs12566105	1.00[AFR][1000 genomes]
rs12566314	1.00[AFR][1000 genomes]
rs12569033	1.00[AFR][1000 genomes]
rs1338297	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs1387932	1.00[AFR][1000 genomes]
rs17015564	1.00[AFR][1000 genomes]
rs17015565	1.00[AFR][1000 genomes]
rs17015566	1.00[AFR][1000 genomes]
rs17015667	1.00[AFR][1000 genomes]
rs2130625	1.00[AFR][1000 genomes]
rs2130629	1.00[AFR][1000 genomes]
rs2273047	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28417505	1.00[AFR][1000 genomes]
rs4589111	1.00[AFR][1000 genomes]
rs4844507	1.00[AFR][1000 genomes]
rs4844509	1.00[AFR][1000 genomes]
rs4844939	1.00[AFR][1000 genomes]
rs4844941	1.00[AFR][1000 genomes]
rs4844943	1.00[AFR][1000 genomes]
rs4844944	1.00[AFR][1000 genomes]
rs4844945	1.00[AFR][1000 genomes]
rs4844946	1.00[AFR][1000 genomes]
rs4844955	1.00[AFR][1000 genomes]
rs614167	0.81[ASN][1000 genomes]
rs628908	0.81[ASN][1000 genomes]
rs664072	0.84[ASN][1000 genomes]
rs67726741	0.86[AMR][1000 genomes]
rs701942	0.81[ASN][1000 genomes]
rs701944	0.82[ASN][1000 genomes]
rs72649937	1.00[AFR][1000 genomes]
rs72649938	1.00[AFR][1000 genomes]
rs72649940	1.00[AFR][1000 genomes]
rs72649948	1.00[AFR][1000 genomes]
rs72649949	1.00[AFR][1000 genomes]
rs72649955	1.00[AFR][1000 genomes]
rs72649956	1.00[AFR][1000 genomes]
rs72649959	1.00[AFR][1000 genomes]
rs72649960	1.00[AFR][1000 genomes]
rs72649964	1.00[AFR][1000 genomes]
rs72649967	1.00[AFR][1000 genomes]
rs72649968	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72649969	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs7416285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs815358	0.81[ASN][1000 genomes]
rs845452	0.82[ASN][1000 genomes]
rs9787400	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210389000-210395600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:210393400-210396000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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