Variant report

Variant	rs12296463
Chromosome Location	chr12:60557347-60557348
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60556765..60558299-chr12:60600713..60603668,2	K562	blood:
2	chr12:60554713..60557488-chr12:60585301..60588073,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10747869	0.92[ASN][1000 genomes]
rs10784031	1.00[ASN][1000 genomes]
rs11173317	1.00[AMR][1000 genomes]
rs11173375	0.92[ASN][1000 genomes]
rs11173381	0.92[ASN][1000 genomes]
rs11173388	0.85[ASN][1000 genomes]
rs12297378	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12299963	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12303842	1.00[AMR][1000 genomes]
rs12303899	0.87[AMR][1000 genomes]
rs12306142	1.00[AMR][1000 genomes]
rs12307563	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12308835	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12309540	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12316539	1.00[AMR][1000 genomes]
rs12317243	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12321091	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12321390	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12322592	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1304314	0.92[ASN][1000 genomes]
rs1354471	0.92[ASN][1000 genomes]
rs1493326	1.00[AMR][1000 genomes]
rs17123427	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17123435	1.00[ASN][1000 genomes]
rs17123543	0.92[ASN][1000 genomes]
rs17123549	0.92[ASN][1000 genomes]
rs17123637	0.92[ASN][1000 genomes]
rs1948852	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2364147	0.92[ASN][1000 genomes]
rs3902471	0.92[ASN][1000 genomes]
rs4320983	0.92[ASN][1000 genomes]
rs4435040	0.92[ASN][1000 genomes]
rs4520627	0.92[ASN][1000 genomes]
rs4556582	0.92[ASN][1000 genomes]
rs57945859	1.00[AMR][1000 genomes]
rs61357417	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7132436	0.92[ASN][1000 genomes]
rs7133571	1.00[AMR][1000 genomes]
rs7135299	0.92[ASN][1000 genomes]
rs7139186	0.92[ASN][1000 genomes]
rs7297241	0.92[ASN][1000 genomes]
rs7300012	0.92[ASN][1000 genomes]
rs7300515	0.92[ASN][1000 genomes]
rs7300765	1.00[AMR][1000 genomes]
rs7309556	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7310877	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73364859	1.00[AMR][1000 genomes]
rs73370703	0.92[ASN][1000 genomes]
rs73370791	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7961348	0.85[ASN][1000 genomes]
rs7975734	0.92[ASN][1000 genomes]
rs978912	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60548200-60558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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