Variant report

Variant	rs591067
Chromosome Location	chr18:9688911-9688912
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9687090..9689506-chr18:9715021..9717452,2	MCF-7	breast:
2	chr18:9687164..9689155-chr18:9707518..9710077,2	MCF-7	breast:
3	chr18:9686824..9689922-chr18:9694336..9698483,3	K562	blood:
4	chr18:9687189..9690124-chr18:9701130..9704989,3	K562	blood:

Variant related genes	Relation type
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12605605	0.94[ASN][1000 genomes]
rs12607866	0.83[EUR][1000 genomes]
rs12955382	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[ASN][1000 genomes]
rs2096820	0.95[ASN][1000 genomes]
rs2105648	0.98[ASN][1000 genomes]
rs2105649	0.98[ASN][1000 genomes]
rs4447487	0.96[ASN][1000 genomes]
rs57545071	0.91[ASN][1000 genomes]
rs587351	0.97[ASN][1000 genomes]
rs587857	0.98[ASN][1000 genomes]
rs589214	0.98[ASN][1000 genomes]
rs603659	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs626922	0.98[ASN][1000 genomes]
rs634056	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs649999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650984	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660974	0.98[ASN][1000 genomes]
rs683639	0.89[ASN][1000 genomes]
rs684949	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs695129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9685200-9695200	Weak transcription	Spleen	Spleen
2	chr18:9685600-9695800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr18:9685600-9696800	Weak transcription	Right Atrium	heart
4	chr18:9685800-9690600	Weak transcription	NHLF	lung
5	chr18:9685800-9690800	Weak transcription	Fetal Lung	lung
6	chr18:9685800-9695200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr18:9686000-9690600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:9686000-9695400	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:9686000-9695600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:9686400-9691000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:9686400-9693600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr18:9687800-9689200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:9688000-9689000	Flanking Active TSS	NHEK	skin
14	chr18:9688200-9689000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:9688200-9689000	Enhancers	HMEC	breast
16	chr18:9688400-9689000	Flanking Active TSS	K562	blood
17	chr18:9688400-9689200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:9688600-9689000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:9688600-9689200	Weak transcription	Esophagus	oesophagus
20	chr18:9688600-9689800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:9688800-9690800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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