Variant report

Variant	rs7283959
Chromosome Location	chr21:40214670-40214671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40212464..40216526-chr21:40217329..40223088,8	MCF-7	breast:
2	chr21:40208198..40210644-chr21:40213695..40215361,2	K562	blood:
3	chr21:40209482..40212563-chr21:40213470..40216289,3	MCF-7	breast:
4	chr21:40209144..40212226-chr21:40213678..40216387,3	K562	blood:

Variant related genes	Relation type
ENSG00000229986	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1534824	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1534825	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1534826	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836696	0.92[ASN][1000 genomes]
rs2836698	0.90[ASN][1000 genomes]
rs2836699	0.92[ASN][1000 genomes]
rs2836701	0.92[ASN][1000 genomes]
rs2836702	0.92[ASN][1000 genomes]
rs2836705	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836706	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836707	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836708	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836709	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs460475	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs463452	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467940	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467985	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468094	0.83[ASN][1000 genomes]
rs468107	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468193	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468331	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468456	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468529	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468837	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468849	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469180	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469303	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469353	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59427744	0.81[ASN][1000 genomes]
rs7276587	0.90[ASN][1000 genomes]
rs7279564	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7283959	ETS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
3	chr21:40212200-40215400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr21:40212200-40215400	Weak transcription	HSMMtube	muscle
5	chr21:40212200-40215600	Weak transcription	HUVEC	blood vessel
6	chr21:40212400-40215200	Weak transcription	HSMM	muscle
7	chr21:40212400-40215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:40212400-40215400	Weak transcription	NHLF	lung
9	chr21:40212400-40215600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:40212600-40215400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:40212800-40215400	Weak transcription	NH-A	brain
12	chr21:40213000-40215200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:40213000-40219200	Weak transcription	Right Atrium	heart
14	chr21:40213400-40215200	Weak transcription	Osteobl	bone
15	chr21:40213600-40215000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr21:40213600-40215200	Weak transcription	NHDF-Ad	bronchial
17	chr21:40213800-40215600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:40213800-40215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:40213800-40219200	Weak transcription	Hela-S3	cervix
20	chr21:40214000-40215200	Weak transcription	NHEK	skin
21	chr21:40214000-40215600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:40214000-40215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:40214200-40215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr21:40214200-40215200	Weak transcription	HMEC	breast
25	chr21:40214400-40219200	Weak transcription	Fetal Stomach	stomach

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