Variant report

Variant	rs6485620
Chromosome Location	chr11:45353795-45353796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45304830..45305456-chr11:45353640..45354631,2	K562	blood:
2	chr11:45204656..45205178-chr11:45353681..45354216,2	MCF-7	breast:
3	chr11:45131918..45132817-chr11:45353622..45354653,9	K562	blood:
4	chr11:45124654..45125507-chr11:45353678..45354330,2	K562	blood:
5	chr11:45132082..45133595-chr11:45353521..45354803,7	MCF-7	breast:
6	chr11:44957512..44958657-chr11:45353637..45354697,3	K562	blood:

Variant related genes	Relation type
ENSG00000175274	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10742748	0.83[EUR][1000 genomes]
rs10742749	0.83[EUR][1000 genomes]
rs10742750	0.95[ASN][1000 genomes]
rs10769138	0.83[EUR][1000 genomes]
rs10838446	0.83[EUR][1000 genomes]
rs11038390	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11530155	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2863181	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs34801223	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4755962	0.85[EUR][1000 genomes]
rs4755965	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4755966	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4755967	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4755969	0.86[EUR][1000 genomes]
rs4755970	0.86[EUR][1000 genomes]
rs4755975	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6416133	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6485613	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6485614	0.84[EUR][1000 genomes]
rs6485615	0.81[AFR][1000 genomes]
rs6485616	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6485619	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7106802	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7110287	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7112192	0.86[EUR][1000 genomes]
rs7112723	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7124597	0.86[EUR][1000 genomes]
rs7478974	0.83[EUR][1000 genomes]
rs7479052	0.83[EUR][1000 genomes]
rs7480542	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7482739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7925771	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7946683	0.86[EUR][1000 genomes]
rs9667484	0.82[AFR][1000 genomes];0.86[EUR][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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6485620	MYBPC3	cis	cerebellum	SCAN
rs6485620	LRP4	cis	cerebellum	SCAN
rs6485620	NDUFS3	cis	cerebellum	SCAN
rs6485620	LRP4	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45353400-45354200	Enhancers	Osteobl	bone
2	chr11:45353400-45357800	Enhancers	Fetal Muscle Leg	muscle
3	chr11:45353600-45353800	Enhancers	Fetal Muscle Trunk	muscle
4	chr11:45353600-45353800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr11:45353600-45353800	Bivalent Enhancer	NH-A	brain
6	chr11:45353600-45354000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr11:45353600-45354000	Bivalent Enhancer	A549	lung
8	chr11:45353600-45354200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:45353600-45354200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:45353600-45354400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
11	chr11:45353600-45354400	Enhancers	Fetal Brain Male	brain
12	chr11:45353600-45354400	Enhancers	NHDF-Ad	bronchial
13	chr11:45353600-45354600	Enhancers	Brain Germinal Matrix	brain
14	chr11:45353600-45354800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:45353600-45355400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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