Variant report

Variant	rs1209931
Chromosome Location	chr21:40160827-40160828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40155047..40156844-chr21:40159379..40161340,2	MCF-7	breast:
2	chr21:40158041..40161910-chr21:40175596..40180594,8	K562	blood:
3	chr21:40159408..40162072-chr21:40163674..40168810,7	MCF-7	breast:
4	chr21:39714897..39716784-chr21:40158367..40161064,2	MCF-7	breast:
5	chr21:40159708..40161955-chr21:40178038..40180627,4	K562	blood:
6	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
7	chr21:40159503..40161040-chr21:40181420..40184054,2	K562	blood:
8	chr21:40157809..40160879-chr21:40282729..40285436,3	MCF-7	breast:
9	chr21:40156704..40162526-chr21:40173499..40179988,10	MCF-7	breast:
10	chr21:40159737..40161887-chr21:40171918..40174307,2	MCF-7	breast:
11	chr21:40156601..40161503-chr21:40174870..40178905,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1013777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1041438	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1041781	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1041782	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11088448	0.84[ASN][1000 genomes]
rs1209912	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1209913	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1209914	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1209916	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209917	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209918	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209919	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209920	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209921	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209922	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209923	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209924	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209925	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209926	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209927	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209928	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1209929	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1209932	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1209933	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1209934	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1209935	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209936	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1209937	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1209938	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209939	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1209940	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209942	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209943	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209944	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209945	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209946	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209947	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12626796	0.83[ASN][1000 genomes]
rs13047789	0.84[ASN][1000 genomes]
rs1309152	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2000638	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2283638	0.82[ASN][1000 genomes]
rs2283639	0.82[ASN][1000 genomes]
rs714781	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv516348	chr21:40116044-40161381	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv913743	chr21:40116044-40161381	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1055623	chr21:40118451-40161072	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1209931	ETS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 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	chr21:40157800-40161800	Weak transcription	Fetal Lung	lung
4	chr21:40158200-40161200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr21:40158600-40161000	Weak transcription	Small Intestine	intestine
6	chr21:40159200-40161400	Enhancers	Pancreas	Pancrea
7	chr21:40159800-40162800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr21:40160200-40161000	Enhancers	HMEC	breast
9	chr21:40160200-40161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:40160200-40167400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr21:40160400-40161000	Weak transcription	Colonic Mucosa	Colon
12	chr21:40160400-40161600	Weak transcription	Liver	Liver
13	chr21:40160400-40163200	Enhancers	Duodenum Mucosa	Duodenum
14	chr21:40160600-40161000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr21:40160600-40161000	Weak transcription	K562	blood
16	chr21:40160600-40161600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr21:40160600-40162600	Enhancers	Stomach Mucosa	stomach
18	chr21:40160600-40165800	Weak transcription	Esophagus	oesophagus
19	chr21:40160600-40169200	Weak transcription	Placenta	Placenta
20	chr21:40160800-40162400	Enhancers	HepG2	liver
21	chr21:40160800-40165800	Weak transcription	A549	lung
22	chr21:40160800-40165800	Weak transcription	Hela-S3	cervix
23	chr21:40160800-40167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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