Variant report

Variant	rs13313018
Chromosome Location	chr1:173643682-173643683
allele	C/T
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	EP300	chr1:173643644-173643992	K562	blood:	n/a	n/a
2	CEBPD	chr1:173643609-173644090	K562	blood:	n/a	n/a
3	GATA1	chr1:173643645-173644690	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173642158..173644054-chr1:173829177..173831512,2	K562	blood:
2	chr1:173637673..173644505-chr1:173792419..173795621,6	K562	blood:

Variant related genes	Relation type
ANKRD45	TF binding region
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082296	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10128064	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10158274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10159349	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239406	1.00[AMR][1000 genomes]
rs13374735	1.00[AMR][1000 genomes]
rs13375569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376081	1.00[AMR][1000 genomes]
rs13376339	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376392	1.00[AMR][1000 genomes]
rs13376447	1.00[AMR][1000 genomes]
rs2227605	1.00[AMR][1000 genomes]
rs2227621	1.00[AMR][1000 genomes]
rs34683148	1.00[AMR][1000 genomes]
rs35052032	1.00[AMR][1000 genomes]
rs35133735	1.00[AMR][1000 genomes]
rs4650988	1.00[AMR][1000 genomes]
rs4652416	1.00[AMR][1000 genomes]
rs6425252	1.00[AMR][1000 genomes]
rs6656810	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665497	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6695916	1.00[AMR][1000 genomes]
rs6703355	1.00[AMR][1000 genomes]
rs7349122	1.00[AMR][1000 genomes]
rs7518933	1.00[AMR][1000 genomes]
rs7532991	1.00[AMR][1000 genomes]
rs7540898	1.00[AMR][1000 genomes]
rs9286893	1.00[AMR][1000 genomes]
rs9425412	1.00[AMR][1000 genomes]
rs9425417	1.00[AMR][1000 genomes]
rs9425429	1.00[AMR][1000 genomes]
rs9425432	1.00[AMR][1000 genomes]
rs9425437	1.00[AMR][1000 genomes]
rs9425732	1.00[AMR][1000 genomes]
rs9425733	1.00[AMR][1000 genomes]
rs9425737	1.00[AMR][1000 genomes]
rs9425739	1.00[AMR][1000 genomes]
rs9425743	1.00[AMR][1000 genomes]
rs9425744	1.00[AMR][1000 genomes]
rs9425767	1.00[AMR][1000 genomes]
rs9425769	1.00[AMR][1000 genomes]
rs9425770	1.00[AMR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173630600-173646600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:173639000-173657200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:173639800-173645200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:173643600-173644000	Enhancers	K562	blood

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