Variant report

Variant	rs11877259
Chromosome Location	chr18:28684574-28684575
allele	G/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	POLR2A	chr18:28684149-28685182	K562	blood:	n/a	n/a
2	POLR2A	chr18:28684333-28684907	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr18:28684415-28684872	H1-neurons	neurons:	n/a	n/a
4	REST	chr18:28684176-28685225	H1-neurons	neurons:	n/a	chr18:28684596-28684609

No.	Distal block	Cell Line	Cell type
1	chr18:28684191..28685989-chr18:28784874..28786377,2	MCF-7	breast:
2	chr18:28682670..28684930-chr18:28689763..28691596,2	K562	blood:
3	chr18:28683460..28685615-chr18:28686180..28687685,2	MCF-7	breast:
4	chr18:28682778..28684607-chr18:28773976..28775884,2	MCF-7	breast:
5	chr1:188032949..188033458-chr18:28684179..28684699,2	MCF-7	breast:

Variant related genes	Relation type
DSC2	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11874340	0.82[EUR][1000 genomes]
rs11874411	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11874916	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11876103	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16961206	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16961253	0.82[EUR][1000 genomes]
rs16961254	0.82[EUR][1000 genomes]
rs16961256	0.82[EUR][1000 genomes]
rs16961326	0.82[EUR][1000 genomes]
rs16961328	0.82[EUR][1000 genomes]
rs16961331	0.82[EUR][1000 genomes]
rs16961333	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1816634	0.82[EUR][1000 genomes]
rs2156495	0.82[EUR][1000 genomes]
rs2156761	0.82[EUR][1000 genomes]
rs28379393	0.94[EUR][1000 genomes]
rs58689925	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58911015	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59270371	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59683603	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6506883	1.00[EUR][1000 genomes]
rs7233226	0.82[EUR][1000 genomes]
rs7235130	1.00[EUR][1000 genomes]
rs7244822	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73415516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415572	0.82[EUR][1000 genomes]
rs73415573	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73415585	0.82[EUR][1000 genomes]
rs73421614	0.82[EUR][1000 genomes]
rs73421636	0.82[EUR][1000 genomes]
rs73421639	0.82[EUR][1000 genomes]
rs73954506	0.91[EUR][1000 genomes]
rs73954515	0.82[EUR][1000 genomes]
rs8086137	0.82[EUR][1000 genomes]
rs8086813	1.00[EUR][1000 genomes]
rs985861	0.82[EUR][1000 genomes]
rs985862	0.82[EUR][1000 genomes]
rs9957742	0.94[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	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28682600-28684600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28682600-28685400	Weak transcription	Esophagus	oesophagus
3	chr18:28682800-28687200	Weak transcription	Stomach Mucosa	stomach
4	chr18:28683200-28685000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:28683200-28688400	Weak transcription	Fetal Intestine Small	intestine
6	chr18:28683600-28684800	Weak transcription	K562	blood
7	chr18:28683600-28684800	Enhancers	NHEK	skin
8	chr18:28683800-28684800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr18:28683800-28685000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr18:28683800-28685000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:28684400-28684600	Enhancers	Thymus	Thymus
12	chr18:28684400-28684800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr18:28684400-28685000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:28684400-28685200	Enhancers	Fetal Lung	lung

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