Variant report

Variant	rs5005569
Chromosome Location	chr2:152520550-152520551
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152507038..152510208-chr2:152517884..152520798,3	K562	blood:
2	chr2:152514466..152519197-chr2:152519383..152523165,5	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10170273	0.82[EUR][1000 genomes]
rs10178880	0.81[EUR][1000 genomes]
rs10930723	0.82[EUR][1000 genomes]
rs11904536	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12328501	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12464543	0.80[ASN][1000 genomes]
rs12616767	0.80[EUR][1000 genomes]
rs12620077	0.82[EUR][1000 genomes]
rs12693090	0.85[ASN][1000 genomes]
rs13404704	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13428975	0.81[EUR][1000 genomes]
rs28375835	0.81[ASN][1000 genomes]
rs4465763	0.87[ASN][1000 genomes]
rs4536649	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4564765	0.80[EUR][1000 genomes]
rs4664494	0.81[EUR][1000 genomes]
rs4664497	0.85[ASN][1000 genomes]
rs59444636	0.81[ASN][1000 genomes]
rs6433566	0.87[ASN][1000 genomes]
rs6711382	0.81[ASN][1000 genomes]
rs73007940	0.81[ASN][1000 genomes]
rs7426114	0.82[EUR][1000 genomes]
rs7563441	0.80[ASN][1000 genomes]
rs9287990	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152502200-152523000	Weak transcription	Placenta	Placenta
2	chr2:152504400-152531600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:152505200-152543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:152507600-152521000	Weak transcription	Psoas Muscle	Psoas
5	chr2:152511200-152531200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:152511400-152531400	Strong transcription	Fetal Muscle Leg	muscle
7	chr2:152511600-152525800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:152512400-152524400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:152514600-152542800	Strong transcription	HSMMtube	muscle
10	chr2:152515200-152525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:152515400-152529000	Weak transcription	Aorta	Aorta
12	chr2:152516600-152521200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:152518000-152522400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:152520400-152528600	Weak transcription	Brain Anterior Caudate	brain

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