Variant report

Variant	rs16976623
Chromosome Location	chr18:11742133-11742134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:11741634-11742171	K562	blood:	n/a	chr18:11741939-11741950
2	CTCF	chr18:11742020-11742170	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr18:11742040-11742190	HVMF	connective:	n/a	n/a
4	CTCF	chr18:11742000-11742150	GM12873	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:11740510..11743051-chr18:11858756..11861303,2	K562	blood:
2	chr18:11707724..11709378-chr18:11741039..11743864,2	K562	blood:
3	chr18:11741098..11743406-chr18:12048989..12050837,2	K562	blood:
4	chr18:11741484..11742181-chr18:11872223..11873125,2	MCF-7	breast:
5	chr18:11687823..11690505-chr18:11739592..11742363,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267333	TF binding region
ENSG00000267292	Chromatin interaction
ENSG00000141404	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1249628	1.00[CEU][hapmap]
rs16973028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28468616	0.90[ASN][1000 genomes]
rs2903236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4547404	1.00[ASN][1000 genomes]
rs56069280	0.83[ASN][1000 genomes]
rs60025683	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61184045	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7227421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234970	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73944252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73946312	0.90[ASN][1000 genomes]
rs73946313	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73947607	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084370	0.93[ASN][1000 genomes]
rs8084625	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8085082	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9303745	1.00[ASN][1000 genomes]
rs9947295	0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9964761	1.00[ASN][1000 genomes]
rs9967279	0.97[ASN][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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11738400-11742400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11740000-11744800	Enhancers	Fetal Brain Male	brain
3	chr18:11740600-11742600	Weak transcription	Fetal Brain Female	brain
4	chr18:11740800-11742600	Weak transcription	Brain Anterior Caudate	brain
5	chr18:11740800-11742600	Weak transcription	Right Ventricle	heart
6	chr18:11741600-11743200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:11742000-11742600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr18:11742000-11742800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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