Variant report

Variant	rs12058360
Chromosome Location	chr1:221935951-221935952
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	chr1:221914943..221918116-chr1:221930387..221938960,9	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10779455	1.00[ASN][1000 genomes]
rs10863650	1.00[ASN][1000 genomes]
rs11118830	1.00[ASN][1000 genomes]
rs11118832	1.00[ASN][1000 genomes]
rs11118849	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118851	0.85[CEU][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576121	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582814	0.85[CEU][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs12129426	1.00[ASN][1000 genomes]
rs12134197	1.00[ASN][1000 genomes]
rs4603139	0.88[MEX][hapmap]
rs57222604	0.87[EUR][1000 genomes]
rs58058349	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58969712	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60950693	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61696703	0.87[EUR][1000 genomes]
rs6679673	1.00[ASN][1000 genomes]
rs6689267	1.00[ASN][1000 genomes]
rs66916558	0.87[EUR][1000 genomes]
rs6693577	1.00[ASN][1000 genomes]
rs6701025	0.88[EUR][1000 genomes]
rs67225019	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67299058	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72736551	1.00[ASN][1000 genomes]
rs72736552	1.00[ASN][1000 genomes]
rs72736557	1.00[ASN][1000 genomes]
rs72736561	1.00[ASN][1000 genomes]
rs72736562	1.00[ASN][1000 genomes]
rs72736563	1.00[ASN][1000 genomes]
rs72736571	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340042	1.00[ASN][1000 genomes]
rs7534227	1.00[ASN][1000 genomes]
rs7549374	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12058360	TP53BP2	cis	cerebellum	SCAN
rs12058360	AIDA	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221931600-221936400	Enhancers	HUVEC	blood vessel
2	chr1:221932800-221936400	Enhancers	K562	blood
3	chr1:221933400-221939200	Weak transcription	HMEC	breast
4	chr1:221933600-221938400	Weak transcription	NHEK	skin
5	chr1:221933800-221939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:221933800-221939200	Weak transcription	Hela-S3	cervix
7	chr1:221933800-221939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:221933800-221945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:221934200-221939200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:221934400-221936200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:221935000-221939600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:221935200-221939200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:221935400-221936000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:221935600-221944000	Weak transcription	Pancreas	Pancrea
15	chr1:221935800-221937200	Enhancers	GM12878-XiMat	blood
16	chr1:221935800-221938800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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