Variant report

Variant	rs12914919
Chromosome Location	chr15:33693686-33693687
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	chr15:33688402..33689977-chr15:33693470..33695148,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11853587	1.00[CHB][hapmap]
rs11853872	1.00[CHB][hapmap]
rs11857690	1.00[CHB][hapmap]
rs12906915	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12910838	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12913333	1.00[CHB][hapmap]
rs1579584	1.00[CHB][hapmap]
rs16970702	1.00[ASN][1000 genomes]
rs16972314	1.00[CHB][hapmap]
rs16972617	1.00[CHB][hapmap]
rs17236035	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17817170	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2459471	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2596195	1.00[CHB][hapmap]
rs2596216	1.00[ASN][1000 genomes]
rs2676018	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2676019	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2676043	1.00[ASN][1000 genomes]
rs2676045	1.00[ASN][1000 genomes]
rs2676049	1.00[CHB][hapmap]
rs2676050	1.00[ASN][1000 genomes]
rs2676061	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28566012	1.00[ASN][1000 genomes]
rs28687371	1.00[ASN][1000 genomes]
rs34033525	1.00[ASN][1000 genomes]
rs34299908	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34566980	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35134950	1.00[ASN][1000 genomes]
rs35665563	1.00[ASN][1000 genomes]
rs35784031	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs36061049	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6495169	1.00[CHB][hapmap]
rs6495170	1.00[CHB][hapmap]
rs6495180	1.00[CHB][hapmap]
rs71462865	1.00[ASN][1000 genomes]
rs71462866	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71462867	1.00[ASN][1000 genomes]
rs7164680	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7169363	1.00[CHB][hapmap]
rs7175746	1.00[ASN][1000 genomes]
rs7177433	1.00[CHB][hapmap]
rs8023510	1.00[CHB][hapmap]
rs8025449	1.00[CHB][hapmap]
rs8034176	1.00[CHB][hapmap]
rs8035838	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8041153	1.00[CHB][hapmap]
rs9744361	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	nsv533346	chr15:33469439-33809641	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv832963	chr15:33514798-33712442	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv832964	chr15:33608771-33784018	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv568919	chr15:33638335-33736683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33644600-33701600	Weak transcription	Aorta	Aorta
2	chr15:33689000-33695000	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:33689800-33694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:33689800-33697200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:33691000-33695000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:33691200-33694800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:33692000-33694800	Weak transcription	Fetal Brain Male	brain
8	chr15:33693000-33693800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:33693400-33694600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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