Variant report

Variant	rs6547994
Chromosome Location	chr2:30359532-30359533
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30357579..30360858-chr2:30368602..30370618,3	MCF-7	breast:
2	chr2:30358983..30361267-chr2:30362147..30363701,2	K562	blood:

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction
ENSG00000233862	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12052275	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1345151	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1374724	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1509576	0.91[ASN][1000 genomes]
rs1509579	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17009154	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009178	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17009181	1.00[EUR][1000 genomes]
rs2361751	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768668	1.00[EUR][1000 genomes]
rs3768669	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3768670	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3768671	1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4951982	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4952093	0.94[EUR][1000 genomes]
rs4952094	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56696610	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57641749	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6547997	0.90[JPT][hapmap]
rs6710956	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6718385	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6719849	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6739748	0.93[ASN][1000 genomes]
rs6752385	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7585317	0.94[ASN][1000 genomes]
rs7585724	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7603389	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608690	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs935486	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1794716	chr2:30356661-30370785	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30357000-30359600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:30357600-30360600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:30358000-30368600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:30358600-30360400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:30358800-30359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:30358800-30360600	Enhancers	HMEC	breast
7	chr2:30358800-30361800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:30359000-30360600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:30359200-30360000	Enhancers	NHEK	skin

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