Variant report

Variant	rs11846048
Chromosome Location	chr14:81180135-81180136
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81178371..81180976-chr14:81685724..81687285,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10143005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1031299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12878836	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1449526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162178	0.84[CEU][hapmap]
rs1960882	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2060596	0.95[ASN][1000 genomes]
rs2371335	0.92[ASN][1000 genomes]
rs2371336	0.92[ASN][1000 genomes]
rs2596108	0.86[ASN][1000 genomes]
rs2619673	0.92[ASN][1000 genomes]
rs2619674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327435	0.88[CEU][hapmap]
rs327442	0.88[CEU][hapmap]
rs327443	0.85[CEU][hapmap]
rs327446	0.87[CEU][hapmap]
rs327456	0.83[CEU][hapmap]
rs327457	0.83[CEU][hapmap]
rs327462	0.84[CEU][hapmap]
rs327463	0.88[CEU][hapmap]
rs327467	0.85[CEU][hapmap]
rs327470	0.84[CEU][hapmap]
rs327472	0.85[CEU][hapmap]
rs8011273	0.88[CEU][hapmap]
rs8019534	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs992358	1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:81166200-81180200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr14:81167600-81181400	Weak transcription	Fetal Thymus	thymus
3	chr14:81168400-81184200	Weak transcription	Thymus	Thymus
4	chr14:81171000-81180600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:81172400-81185200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:81172600-81185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:81178800-81182200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:81179200-81186200	Enhancers	Dnd41	blood
9	chr14:81180000-81181000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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