Variant report

Variant	rs468107
Chromosome Location	chr21:40216362-40216363
allele	A/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	FOS	chr21:40215725-40216405	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr21:40215603-40216439	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr21:40215562-40216439	SK-N-SH	brain:	n/a	n/a
4	FOS	chr21:40215709-40216420	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr21:40215621-40216394	SK-N-SH	brain:	n/a	n/a
6	EP300	chr21:40215566-40216398	SK-N-SH	brain:	n/a	n/a
7	FOS	chr21:40215769-40216516	HUVEC	blood vessel:	n/a	n/a
8	FOS	chr21:40215709-40216433	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr21:40215569-40216400	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40181085..40183143-chr21:40216302..40218892,2	K562	blood:
2	chr21:40212464..40216526-chr21:40217329..40223088,8	MCF-7	breast:
3	chr21:40209144..40212226-chr21:40213678..40216387,3	K562	blood:

Variant related genes	Relation type
ENSG00000229986	TF binding region
ENSG00000157557	Chromatin interaction
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	0.93[ASN][1000 genomes]
rs1534825	0.93[ASN][1000 genomes]
rs1534826	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	0.92[ASN][1000 genomes]
rs2836706	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836707	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836708	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836709	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs460475	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs463452	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467940	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467985	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468094	0.83[ASN][1000 genomes]
rs468193	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468331	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468456	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468529	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468837	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468849	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469180	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469303	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469353	0.98[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	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283959	0.96[AMR][1000 genomes];0.99[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
rs468107	ETS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 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	chr21:40213000-40219200	Weak transcription	Right Atrium	heart
4	chr21:40213800-40219200	Weak transcription	Hela-S3	cervix
5	chr21:40214400-40219200	Weak transcription	Fetal Stomach	stomach
6	chr21:40215200-40216400	Enhancers	NHEK	skin
7	chr21:40215200-40216600	Enhancers	HMEC	breast
8	chr21:40215200-40216600	Enhancers	NHDF-Ad	bronchial
9	chr21:40215200-40216800	Enhancers	Osteobl	bone
10	chr21:40215400-40216400	Enhancers	HSMMtube	muscle
11	chr21:40215400-40216600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:40215400-40216600	Enhancers	NHLF	lung
13	chr21:40215600-40216400	Enhancers	HUVEC	blood vessel
14	chr21:40215600-40216600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:40215600-40216600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:40215600-40216800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:40215800-40217200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr21:40215800-40219400	Weak transcription	NH-A	brain
19	chr21:40216000-40219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:40216200-40219000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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