Variant report

Variant	rs12319439
Chromosome Location	chr12:44450614-44450615
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	chr12:44446827..44449468-chr12:44449634..44452541,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10161163	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10161301	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506233	1.00[ASN][1000 genomes]
rs11182363	1.00[ASN][1000 genomes]
rs11182371	1.00[ASN][1000 genomes]
rs11182376	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182389	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182401	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182410	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12099550	1.00[ASN][1000 genomes]
rs12296939	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297529	1.00[ASN][1000 genomes]
rs12297544	0.87[ASN][1000 genomes]
rs12301421	1.00[ASN][1000 genomes]
rs12302401	1.00[ASN][1000 genomes]
rs12302578	1.00[ASN][1000 genomes]
rs12303163	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303870	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304783	1.00[ASN][1000 genomes]
rs12308508	0.87[ASN][1000 genomes]
rs12308564	1.00[ASN][1000 genomes]
rs12308750	1.00[ASN][1000 genomes]
rs12309408	1.00[ASN][1000 genomes]
rs12310801	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311153	1.00[ASN][1000 genomes]
rs12319385	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319776	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320155	1.00[ASN][1000 genomes]
rs12321149	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321287	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1388775	1.00[ASN][1000 genomes]
rs17094016	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28538835	0.87[ASN][1000 genomes]
rs28654762	1.00[ASN][1000 genomes]
rs57462004	1.00[ASN][1000 genomes]
rs58851540	1.00[ASN][1000 genomes]
rs59152420	0.87[ASN][1000 genomes]
rs66993609	1.00[ASN][1000 genomes]
rs73100825	0.87[ASN][1000 genomes]
rs73100834	0.87[ASN][1000 genomes]
rs73288025	1.00[ASN][1000 genomes]
rs73288036	1.00[ASN][1000 genomes]
rs73288054	1.00[ASN][1000 genomes]
rs73288073	1.00[ASN][1000 genomes]
rs73288075	1.00[ASN][1000 genomes]
rs73288080	1.00[ASN][1000 genomes]
rs73288085	1.00[ASN][1000 genomes]
rs73288089	1.00[ASN][1000 genomes]
rs73288095	1.00[ASN][1000 genomes]
rs73290203	1.00[ASN][1000 genomes]
rs73290206	1.00[ASN][1000 genomes]
rs73290208	1.00[ASN][1000 genomes]
rs73290213	1.00[ASN][1000 genomes]
rs73290217	1.00[ASN][1000 genomes]
rs73290223	1.00[ASN][1000 genomes]
rs73290224	1.00[ASN][1000 genomes]
rs73290225	1.00[ASN][1000 genomes]
rs73290228	1.00[ASN][1000 genomes]
rs73290230	1.00[ASN][1000 genomes]
rs963095	0.87[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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44439200-44464400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44447000-44459800	Weak transcription	Gastric	stomach
3	chr12:44448200-44452000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:44448400-44451600	Weak transcription	Hela-S3	cervix
5	chr12:44449000-44451000	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links