Variant report

Variant	rs72693080
Chromosome Location	chr14:81453719-81453720
allele	A/G
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: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11845052	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11850464	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12050078	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12050350	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12437005	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12896769	0.90[ASN][1000 genomes]
rs17544968	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17545038	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17545310	0.88[ASN][1000 genomes]
rs179243	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];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2024427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110696	0.91[ASN][1000 genomes]
rs2239610	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2268452	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2268457	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268458	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268460	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284718	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284719	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284720	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284722	0.93[ASN][1000 genomes]
rs2284727	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35472552	0.81[ASN][1000 genomes]
rs3783945	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783951	0.94[ASN][1000 genomes]
rs4903958	0.94[ASN][1000 genomes]
rs4903959	0.94[ASN][1000 genomes]
rs5002906	0.93[ASN][1000 genomes]
rs55751898	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55945219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59431750	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59711583	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs724169	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72693057	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693090	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72693093	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72693096	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72695026	0.81[ASN][1000 genomes]
rs74064796	0.86[AMR][1000 genomes];0.99[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:19 , 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	chr14:81453200-81454000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:81453400-81453800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:81453400-81453800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:81453400-81453800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:81453400-81453800	Enhancers	HUVEC	blood vessel
9	chr14:81453400-81453800	Enhancers	Osteobl	bone
10	chr14:81453400-81455600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:81453600-81453800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:81453600-81453800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:81453600-81453800	Flanking Active TSS	A549	lung
14	chr14:81453600-81453800	Flanking Active TSS	HSMM	muscle
15	chr14:81453600-81453800	Flanking Active TSS	NHEK	skin
16	chr14:81453600-81454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr14:81453600-81454000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:81453600-81454000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:81453600-81454200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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