Variant report

Variant	rs8009083
Chromosome Location	chr14:81818289-81818290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81817681..81819808-chr14:81839825..81842521,2	MCF-7	breast:
2	chr14:81787114..81788758-chr14:81816249..81818905,2	K562	blood:
3	chr14:81684971..81687873-chr14:81817888..81820094,2	K562	blood:
4	chr14:81816828..81818366-chr14:81868014..81870055,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10450894	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10450939	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10450940	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621378	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11623515	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11623634	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11628716	0.87[CEU][hapmap];0.86[CHB][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12434395	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12434434	0.85[ASN][1000 genomes]
rs12435764	0.87[TSI][hapmap];0.91[YRI][hapmap]
rs12436146	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012796	0.91[CEU][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28818872	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3853416	0.86[CHB][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55921727	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55991247	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56039699	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56161464	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56223983	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58532062	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61560331	0.83[EUR][1000 genomes]
rs61986576	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6574646	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574647	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68143923	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146788	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7146802	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147012	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7147254	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147969	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7151434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153469	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007219	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8008024	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009171	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011477	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8011609	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8011624	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8014260	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8014636	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8016255	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81803800-81832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:81804200-81820000	Weak transcription	K562	blood
3	chr14:81808000-81820600	Weak transcription	Fetal Kidney	kidney
4	chr14:81808400-81829200	Weak transcription	HMEC	breast
5	chr14:81808600-81820200	Weak transcription	NHEK	skin
6	chr14:81808800-81830200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:81811800-81818800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:81811800-81821000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:81812200-81820000	Weak transcription	Psoas Muscle	Psoas
10	chr14:81813400-81829800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:81814600-81821200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:81814800-81820200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:81815000-81820200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:81817800-81819600	Weak transcription	Left Ventricle	heart
15	chr14:81818200-81820400	Weak transcription	Brain Anterior Caudate	brain

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