Variant report

Variant	rs1547749
Chromosome Location	chr6:140294586-140294587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139696942..139698780-chr6:140294038..140296688,2	K562	blood:
2	chr6:140289417..140292711-chr6:140293441..140296166,4	K562	blood:
3	chr6:140289780..140291502-chr6:140292596..140295071,2	K562	blood:
4	chr6:140285910..140289430-chr6:140290980..140294749,5	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1028467	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12197784	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12202967	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1338692	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977739	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2211064	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328001	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4416686	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570387	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6906538	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7751424	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9495615	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9495620	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140287800-140299000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:140289400-140294800	Weak transcription	HUVEC	blood vessel
3	chr6:140289600-140297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:140291000-140294800	Weak transcription	K562	blood
5	chr6:140291600-140302000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:140292200-140294600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:140292200-140294800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:140292200-140294800	Weak transcription	NH-A	brain
9	chr6:140292600-140294800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:140292600-140294800	Weak transcription	NHDF-Ad	bronchial
11	chr6:140292600-140295000	Weak transcription	HSMM	muscle
12	chr6:140292600-140297000	Weak transcription	Placenta	Placenta
13	chr6:140292600-140306000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:140292800-140295200	Weak transcription	Adipose Nuclei	Adipose
15	chr6:140293600-140294600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:140294200-140296400	Enhancers	Fetal Lung	lung
17	chr6:140294200-140296600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:140294200-140299400	Enhancers	Fetal Heart	heart
19	chr6:140294400-140294800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:140294400-140294800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr6:140294400-140295200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:140294400-140296400	Enhancers	Osteobl	bone

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