Variant report

Variant	rs10808485
Chromosome Location	chr8:117776261-117776262
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr8:117776258-117776433	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:117772893..117776646-chr8:117777338..117778881,3	MCF-7	breast:
2	chr8:117775214..117779057-chr8:117886515..117888588,5	K562	blood:
3	chr8:117742100..117744396-chr8:117775638..117777850,2	MCF-7	breast:
4	chr8:117766057..117771164-chr8:117775647..117780363,13	MCF-7	breast:
5	chr8:117741427..117743195-chr8:117775678..117778082,2	MCF-7	breast:

No data

Variant related genes	Relation type
UTP23	TF binding region
ENSG00000147677	Chromatin interaction
ENSG00000164754	Chromatin interaction
ENSG00000264875	Chromatin interaction
ENSG00000147679	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10089815	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10094452	0.80[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10095889	0.89[ASN][1000 genomes]
rs10104144	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10109369	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10283122	1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10283129	0.85[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs10505284	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10505285	0.90[YRI][hapmap]
rs11776214	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11781754	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11783824	0.87[ASN][1000 genomes]
rs12375316	0.84[AFR][1000 genomes]
rs12546186	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12547063	0.90[YRI][hapmap]
rs12547108	0.80[EUR][1000 genomes]
rs12548402	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12675074	0.83[ASN][1000 genomes]
rs12675093	0.85[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs13250873	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13258789	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13264928	0.84[AFR][1000 genomes]
rs13266314	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13268448	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1374299	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1436767	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16888683	0.83[YRI][hapmap]
rs16888705	0.89[YRI][hapmap]
rs16888709	0.89[YRI][hapmap]
rs16888721	0.90[YRI][hapmap]
rs17663673	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17664079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867841	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2121339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34672734	0.82[ASN][1000 genomes]
rs34701891	0.84[ASN][1000 genomes]
rs35682273	0.84[ASN][1000 genomes]
rs35792844	0.81[AFR][1000 genomes]
rs41339048	0.89[YRI][hapmap]
rs4145242	0.81[ASN][1000 genomes]
rs4372028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4449824	1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4464999	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs4514005	0.91[ASN][1000 genomes]
rs4532623	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4876365	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4876671	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4876672	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4876675	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4876677	0.81[AFR][1000 genomes]
rs4876679	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs4876680	0.91[ASN][1000 genomes]
rs62510194	0.84[ASN][1000 genomes]
rs6469660	0.85[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs6981932	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6983034	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6988190	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6990665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6992589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6995838	0.80[EUR][1000 genomes]
rs7006087	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7011256	0.81[AFR][1000 genomes]
rs7013007	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7814084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817878	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823870	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7828774	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7836226	0.82[ASN][1000 genomes]
rs7843792	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117768800-117777600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:117768800-117778000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:117769200-117777600	Weak transcription	Dnd41	blood
4	chr8:117769400-117777800	Weak transcription	Hela-S3	cervix
5	chr8:117772200-117777800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:117772400-117777600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:117774800-117778000	Weak transcription	Fetal Lung	lung
8	chr8:117775000-117777600	Weak transcription	HepG2	liver
9	chr8:117775200-117777800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:117775200-117778000	Weak transcription	Left Ventricle	heart

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