Variant report

Variant	rs1445934
Chromosome Location	chr5:111884994-111884995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111496580..111499144-chr5:111884789..111886840,2	K562	blood:
2	chr5:111884694..111888064-chr5:112042220..112044384,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224032	Chromatin interaction
ENSG00000134982	Chromatin interaction
ENSG00000238363	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11740414	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11745418	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11748780	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1422541	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1445935	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs163456	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs338843	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs338850	0.80[EUR][1000 genomes]
rs338854	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs338863	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs338864	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs338867	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs338869	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs338873	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs341290	0.81[AMR][1000 genomes]
rs401722	0.81[EUR][1000 genomes]
rs430143	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs437318	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4376316	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs445130	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4574588	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7443518	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111882800-111885600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:111883400-111885000	Enhancers	NH-A	brain
3	chr5:111883600-111885000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:111883800-111885000	Enhancers	NHDF-Ad	bronchial
5	chr5:111883800-111887600	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:111884400-111885000	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:111884400-111885800	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:111884400-111887800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:111884400-111890200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:111884600-111887400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:111884600-111887400	Enhancers	K562	blood
12	chr5:111884800-111885000	Enhancers	Fetal Intestine Large	intestine
13	chr5:111884800-111885600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:111884800-111886400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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