Variant report

Variant	rs6493393
Chromosome Location	chr15:50276945-50276946
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	chr15:50275595..50278547-chr15:50278669..50281707,3	K562	blood:
2	chr15:50269706..50272212-chr15:50276259..50278710,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10519250	0.85[GIH][hapmap]
rs11070741	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12439921	0.81[CEU][hapmap]
rs12593937	0.91[GIH][hapmap]
rs12905434	0.85[GIH][hapmap]
rs2067885	0.82[GIH][hapmap]
rs2413977	0.82[GIH][hapmap]
rs2413992	0.91[GIH][hapmap]
rs2413997	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2414001	0.81[GIH][hapmap]
rs2414002	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2414004	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2414005	0.82[ASW][hapmap];0.88[MKK][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2414006	0.82[ASW][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2414008	0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4343223	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4349086	0.82[GIH][hapmap]
rs4433752	0.82[GIH][hapmap]
rs4502159	0.84[ASW][hapmap]
rs4550392	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4583186	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4627270	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57498160	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6493394	0.85[GIH][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7165307	0.81[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7175764	0.82[GIH][hapmap]
rs7176999	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7177104	0.81[GIH][hapmap]
rs7179614	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8027073	0.91[GIH][hapmap]
rs8041014	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9302151	0.82[ASW][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904205	chr15:50228476-50286981	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50262800-50278200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:50265800-50277800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:50267600-50277800	Weak transcription	Spleen	Spleen
4	chr15:50268600-50277600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:50268600-50281000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:50268600-50290400	Strong transcription	Primary hematopoietic stem cells	blood
7	chr15:50273200-50280000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:50274400-50277800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr15:50274800-50279400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:50275000-50281000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:50275200-50277800	Weak transcription	Right Atrium	heart
12	chr15:50275400-50283200	Weak transcription	NHLF	lung
13	chr15:50275600-50277800	Weak transcription	Placenta	Placenta
14	chr15:50275600-50278400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:50276400-50277200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:50276800-50277600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:50276800-50281200	Weak transcription	Left Ventricle	heart

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