Variant report

Variant	rs2760480
Chromosome Location	chr1:59203121-59203122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:59200565..59206514-chr1:59243497..59250904,12	K562	blood:

Variant related genes	Relation type
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12562490	0.85[TSI][hapmap]
rs1323281	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1323282	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1323284	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17117968	0.83[TSI][hapmap]
rs17118097	0.88[TSI][hapmap]
rs2760482	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2760483	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2760485	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2811856	0.92[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811858	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811865	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811866	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811867	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2811868	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4612650	0.90[TSI][hapmap]
rs4912364	0.85[TSI][hapmap]
rs4912365	0.85[TSI][hapmap]
rs6659809	0.88[TSI][hapmap]
rs6682078	0.85[TSI][hapmap]
rs999158	0.84[EUR][1000 genomes];0.86[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	esv2754829	chr1:59197556-59215791	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2760480	MYSM1	cis	parietal	SCAN
rs2760480	MYSM1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59192600-59204200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:59198200-59206200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:59198600-59205800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:59198800-59204000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:59198800-59207200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:59200400-59205800	Weak transcription	NHDF-Ad	bronchial
7	chr1:59201000-59204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:59201400-59203200	Enhancers	Dnd41	blood
9	chr1:59201800-59204400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:59202000-59204200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:59202400-59203200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:59202600-59204000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:59202800-59203400	Enhancers	Monocytes-CD14+_RO01746	blood

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