Variant report

Variant	rs612854
Chromosome Location	chr18:11972712-11972713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11972504..11978571-chr18:11978817..11983017,10	K562	blood:
2	chr18:11972047..11973789-chr18:11978802..11980433,2	MCF-7	breast:
3	chr18:11968537..11977808-chr18:11979434..11985075,12	MCF-7	breast:
4	chr18:11945871..11949775-chr18:11972448..11976477,3	K562	blood:
5	chr18:11972504..11976144-chr18:11977097..11981347,7	K562	blood:

Variant related genes	Relation type
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11659317	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593321	0.90[ASN][1000 genomes]
rs1787983	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1787986	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2586219	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848459	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2849407	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889500	0.91[ASN][1000 genomes]
rs59082529	0.91[ASN][1000 genomes]
rs610541	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611930	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62097451	0.86[EUR][1000 genomes]
rs62099883	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62099884	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62099886	0.91[ASN][1000 genomes]
rs62099887	0.91[ASN][1000 genomes]
rs62099888	0.91[ASN][1000 genomes]
rs62099892	0.91[ASN][1000 genomes]
rs62099914	0.90[ASN][1000 genomes]
rs62099915	0.90[ASN][1000 genomes]
rs661450	1.00[ASN][1000 genomes]
rs679246	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244659	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087838	1.00[ASN][1000 genomes]
rs8090352	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8091268	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950799	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9960943	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv1063339	chr18:11909588-11979264	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
11	esv2590619	chr18:11970990-11972739	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 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	chr18:11964400-11980400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:11970800-11974400	Weak transcription	Fetal Lung	lung
3	chr18:11971000-11977000	Weak transcription	A549	lung
4	chr18:11972200-11972800	Flanking Active TSS	Placenta	Placenta
5	chr18:11972400-11973000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:11972400-11973000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr18:11972400-11973000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:11972400-11973000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:11972400-11973000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr18:11972400-11974000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr18:11972400-11974400	Weak transcription	Fetal Stomach	stomach
12	chr18:11972400-11975000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:11972600-11973000	Enhancers	Primary B cells from cord blood	blood
14	chr18:11972600-11973000	Active TSS	Stomach Mucosa	stomach
15	chr18:11972600-11973600	Enhancers	GM12878-XiMat	blood
16	chr18:11972600-11973800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr18:11972600-11974000	Enhancers	Primary monocytes fromperipheralblood	blood

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