Variant report

Variant	rs67676723
Chromosome Location	chr8:117773987-117773988
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:117773784-117773993	GM12878	blood:	n/a	chr8:117773937-117773946 chr8:117773935-117773948 chr8:117773936-117773949
2	SPI1	chr8:117773844-117774017	K562	blood:	n/a	chr8:117773937-117773946 chr8:117773935-117773948 chr8:117773936-117773949
3	SPI1	chr8:117773807-117774007	K562	blood:	n/a	chr8:117773937-117773946 chr8:117773935-117773948 chr8:117773936-117773949
4	ARID3A	chr8:117773843-117774912	K562	blood:	n/a	n/a
5	SPI1	chr8:117773747-117774110	GM12891	blood:	n/a	chr8:117773937-117773946 chr8:117773935-117773948 chr8:117773936-117773949
6	RCOR1	chr8:117773838-117774156	K562	blood:	n/a	n/a
7	SPI1	chr8:117773757-117774148	HL-60	blood:	n/a	chr8:117773937-117773946 chr8:117773935-117773948 chr8:117773936-117773949
8	EP300	chr8:117773943-117774253	GM12878	blood:	n/a	n/a
9	EP300	chr8:117773803-117774876	K562	blood:	n/a	chr8:117773937-117773946
10	SPI1	chr8:117773863-117774185	HL-60	blood:	n/a	chr8:117773937-117773946 chr8:117773935-117773948 chr8:117773936-117773949
11	TBL1XR1	chr8:117773855-117774880	K562	blood:	n/a	n/a
12	SPI1	chr8:117773828-117774018	GM12878	blood:	n/a	chr8:117773937-117773946 chr8:117773935-117773948 chr8:117773936-117773949
13	ATF1	chr8:117773904-117774292	K562	blood:	n/a	n/a
14	CUX1	chr8:117773926-117774635	K562	blood:	n/a	n/a
15	SPI1	chr8:117773789-117774167	GM12891	blood:	n/a	chr8:117773937-117773946 chr8:117773935-117773948 chr8:117773936-117773949

No.	Distal block	Cell Line	Cell type
1	chr8:117769605..117772487-chr8:117772969..117774566,2	MCF-7	breast:
2	chr8:117773057..117775857-chr8:117877222..117879275,2	K562	blood:
3	chr8:117771578..117774293-chr8:117778925..117781694,2	MCF-7	breast:
4	chr8:117772893..117776646-chr8:117777338..117778881,3	MCF-7	breast:
5	chr8:117772784..117774460-chr8:117885802..117888299,2	K562	blood:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10109976	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1550856	0.90[ASN][1000 genomes]
rs16888695	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888699	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888728	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867840	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28649280	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28651059	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668628	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4289842	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58836328	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59036101	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6983626	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014328	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014359	0.84[EUR][1000 genomes]
rs72681699	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388498	0.82[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388507	0.82[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823271	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828067	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829098	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832540	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837208	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838174	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693860	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979866	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979867	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:11 , 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	chr8:117769400-117774000	Weak transcription	HepG2	liver
5	chr8:117769400-117777800	Weak transcription	Hela-S3	cervix
6	chr8:117772200-117774000	Weak transcription	K562	blood
7	chr8:117772200-117777800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:117772400-117777600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:117773600-117775200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:117773800-117774000	Enhancers	GM12878-XiMat	blood
11	chr8:117773800-117774800	Enhancers	Fetal Lung	lung

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