Variant report

Variant	rs2019777
Chromosome Location	chr11:102351339-102351340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102350576..102352218-chr11:102360372..102362285,2	K562	blood:
2	chr11:102350704..102352285-chr11:102355728..102357386,2	MCF-7	breast:
3	chr11:102346199..102348046-chr11:102350052..102351789,2	MCF-7	breast:
4	chr11:102320074..102325014-chr11:102347034..102351660,6	MCF-7	breast:
5	chr11:102349024..102351373-chr11:102352689..102355274,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152558	Chromatin interaction
ENSG00000255337	Chromatin interaction

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

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

rs_ID	r²[population]
rs1893730	0.82[CEU][hapmap]
rs2156530	0.88[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4754846	0.82[CEU][hapmap]
rs480846	1.00[CEU][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs490860	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs518851	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs530227	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs539751	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs548841	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs548974	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs557747	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs558679	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs589271	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs602271	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs621010	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs650411	0.96[EUR][1000 genomes]
rs651853	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs652329	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs666042	0.88[EUR][1000 genomes]
rs683933	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][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	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv469990	chr11:102335609-102413943	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv556150	chr11:102335609-102415859	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv468854	chr11:102336617-102413943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv556151	chr11:102336617-102413943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102341000-102359600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:102345000-102351600	Weak transcription	Gastric	stomach
3	chr11:102347000-102353000	Enhancers	Stomach Mucosa	stomach
4	chr11:102347800-102353000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:102348000-102353400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:102348200-102351400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:102348200-102351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:102348600-102351600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:102348800-102352000	Weak transcription	K562	blood
10	chr11:102348800-102353400	Weak transcription	Hela-S3	cervix
11	chr11:102350200-102353400	Weak transcription	HepG2	liver
12	chr11:102350800-102351800	Weak transcription	Brain Germinal Matrix	brain

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