Variant report

Variant	rs72693081
Chromosome Location	chr14:81453862-81453863
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: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1035145	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11850285	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12589960	0.91[AMR][1000 genomes]
rs12590262	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12892567	0.81[ASN][1000 genomes]
rs2110695	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2160214	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2268453	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2268462	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2268463	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2268464	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2268465	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2284715	0.82[ASN][1000 genomes]
rs2284716	0.82[ASN][1000 genomes]
rs2284721	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2284723	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2284725	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284728	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284729	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2284731	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2284732	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2300517	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2300518	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2300520	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35789224	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs36193909	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3783944	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3783946	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56169819	0.91[AMR][1000 genomes]
rs58729405	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58838870	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59103962	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59627467	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67130762	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67256654	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67391693	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68104217	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7149747	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7149900	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7150082	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7154106	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7154821	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72689907	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72689910	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72693091	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72695035	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8003402	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8007809	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8022899	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:13 , 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	chr14:81453400-81455600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:81453600-81454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:81453600-81454000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:81453600-81454000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:81453600-81454200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr14:81453800-81454000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:81453800-81454000	Active TSS	A549	lung
12	chr14:81453800-81455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:81453800-81455000	Weak transcription	Osteobl	bone

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