Variant report

Variant	rs2024427
Chromosome Location	chr14:81454236-81454237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81453560..81454332-chr14:81462475..81463099,2	MCF-7	breast:
2	chr14:81420779..81422433-chr14:81453388..81454519,26	MCF-7	breast:
3	chr14:81421230..81421734-chr14:81453626..81454505,2	K562	blood:
4	chr14:81420793..81422054-chr14:81453413..81454510,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165409	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11845052	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11850464	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12050078	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12050350	0.95[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12437005	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12896769	0.90[ASN][1000 genomes]
rs17544968	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17545038	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17545310	0.88[ASN][1000 genomes]
rs179243	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs179245	0.80[ASN][1000 genomes]
rs179249	0.92[ASN][1000 genomes]
rs179251	0.92[ASN][1000 genomes]
rs179254	0.86[ASN][1000 genomes]
rs179257	0.94[ASN][1000 genomes]
rs1990597	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2110696	0.89[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs2239610	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2268452	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2268457	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268458	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268460	0.85[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284718	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284719	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284720	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284722	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs2284727	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35472552	0.81[ASN][1000 genomes]
rs3783945	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783951	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4903957	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs4903958	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs4903959	0.94[ASN][1000 genomes]
rs5002906	0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs55751898	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55945219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59431750	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59711583	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs724169	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs726020	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs72693057	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72693068	0.93[ASN][1000 genomes]
rs72693069	0.93[ASN][1000 genomes]
rs72693070	0.93[ASN][1000 genomes]
rs72693072	0.93[ASN][1000 genomes]
rs72693073	0.93[ASN][1000 genomes]
rs72693075	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72693078	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693090	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72693093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72693096	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72695026	0.81[ASN][1000 genomes]
rs74064796	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs917985	0.91[ASN][1000 genomes]
rs929630	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81450800-81454400	Enhancers	Fetal Thymus	thymus
2	chr14:81451000-81455400	Enhancers	Dnd41	blood
3	chr14:81452600-81454600	Weak transcription	Thymus	Thymus
4	chr14:81453400-81455600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:81453800-81455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:81453800-81455000	Weak transcription	Osteobl	bone
7	chr14:81454000-81455000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:81454000-81455000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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