Variant report

Variant	rs468193
Chromosome Location	chr21:40221279-40221280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40217862..40220675-chr21:40220912..40222796,2	K562	blood:
2	chr21:40204834..40207310-chr21:40220918..40222421,2	K562	blood:
3	chr21:40218988..40223370-chr21:40223471..40227627,7	K562	blood:
4	chr21:40184134..40185724-chr21:40220746..40223336,2	K562	blood:
5	chr21:40202120..40203721-chr21:40220643..40222450,2	K562	blood:
6	chr21:40210912..40213065-chr21:40219265..40221347,3	K562	blood:
7	chr21:40177532..40179419-chr21:40220518..40222692,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction
ENSG00000229986	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1209943	0.81[CEU][hapmap]
rs1534824	0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1534825	0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1534826	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836696	0.91[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2836698	0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2836699	0.91[ASN][1000 genomes]
rs2836701	0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2836702	0.91[ASN][1000 genomes]
rs2836705	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836706	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836708	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836709	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs460475	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs462776	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs463452	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467940	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467985	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468094	0.84[ASN][1000 genomes]
rs468107	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468331	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468456	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468837	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469303	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59427744	0.81[ASN][1000 genomes]
rs7276587	0.90[ASN][1000 genomes]
rs7279564	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7283959	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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
rs468193	ETS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 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	chr21:40219200-40222200	Enhancers	K562	blood
4	chr21:40219200-40222400	Enhancers	Fetal Heart	heart
5	chr21:40219200-40222400	Enhancers	Fetal Lung	lung
6	chr21:40219200-40222400	Enhancers	Fetal Muscle Leg	muscle
7	chr21:40219400-40223400	Weak transcription	Aorta	Aorta
8	chr21:40219400-40224000	Weak transcription	Esophagus	oesophagus
9	chr21:40219800-40221600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:40219800-40222000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:40219800-40225200	Weak transcription	Osteobl	bone
12	chr21:40219800-40229000	Weak transcription	Right Atrium	heart
13	chr21:40220000-40221400	Enhancers	Hela-S3	cervix
14	chr21:40220000-40224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:40220000-40224400	Weak transcription	HMEC	breast
16	chr21:40220200-40223600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:40220400-40223400	Weak transcription	NHEK	skin
18	chr21:40220400-40224400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr21:40220400-40225200	Weak transcription	NHDF-Ad	bronchial
20	chr21:40220400-40229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:40220600-40221600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr21:40220600-40222200	Weak transcription	Placenta	Placenta
23	chr21:40220600-40223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:40221200-40222400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:40221200-40223800	Enhancers	HepG2	liver
26	chr21:40221200-40226400	Enhancers	HUVEC	blood vessel
27	chr21:40221200-40229000	Weak transcription	Left Ventricle	heart

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