Variant report

Variant	rs1209933
Chromosome Location	chr21:40161976-40161977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40159408..40162072-chr21:40163674..40168810,7	MCF-7	breast:
2	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
3	chr21:40161170..40164119-chr21:40553969..40556630,2	K562	blood:
4	chr21:40156704..40162526-chr21:40173499..40179988,10	MCF-7	breast:
5	chr21:40156267..40158669-chr21:40161958..40164607,2	K562	blood:
6	chr21:40161930..40164831-chr21:40176426..40179511,3	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000272991	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1013777	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1041781	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1041782	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11088448	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1209912	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1209913	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1209914	0.91[CEU][hapmap];0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs1209916	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209917	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209918	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1209919	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1209920	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1209921	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1209922	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209923	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209924	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1209925	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209926	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209927	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209928	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209929	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209931	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1209932	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1209934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1209935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1209936	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1209937	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1209938	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1209939	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1209940	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1209942	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209944	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209945	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209946	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209947	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12626796	0.84[ASN][1000 genomes]
rs13047789	0.86[ASN][1000 genomes]
rs1309152	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2000638	0.83[EUR][1000 genomes]
rs2156422	0.87[CHB][hapmap]
rs2256290	0.87[CHB][hapmap]
rs2283638	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2283639	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs714781	0.82[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	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1209933	ETS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40156200-40163600	Enhancers	Fetal Intestine Small	intestine
2	chr21:40156400-40163200	Enhancers	Fetal Intestine Large	intestine
3	chr21:40159800-40162800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr21:40160200-40167400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr21:40160400-40163200	Enhancers	Duodenum Mucosa	Duodenum
6	chr21:40160600-40162600	Enhancers	Stomach Mucosa	stomach
7	chr21:40160600-40165800	Weak transcription	Esophagus	oesophagus
8	chr21:40160600-40169200	Weak transcription	Placenta	Placenta
9	chr21:40160800-40162400	Enhancers	HepG2	liver
10	chr21:40160800-40165800	Weak transcription	A549	lung
11	chr21:40160800-40165800	Weak transcription	Hela-S3	cervix
12	chr21:40160800-40167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:40161000-40162200	Enhancers	Colonic Mucosa	Colon
14	chr21:40161000-40162400	Enhancers	K562	blood
15	chr21:40161200-40162200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr21:40161200-40162800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:40161400-40162200	Weak transcription	Small Intestine	intestine
18	chr21:40161400-40165800	Weak transcription	Pancreas	Pancrea
19	chr21:40161600-40162000	Enhancers	Fetal Muscle Trunk	muscle
20	chr21:40161600-40163000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr21:40161800-40162800	Enhancers	Fetal Lung	lung

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