Variant report

Variant	rs13000462
Chromosome Location	chr2:113534024-113534025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113528918..113531311-chr2:113533495..113535043,2	K562	blood:
2	chr2:113533014..113535192-chr2:113549510..113553376,4	K562	blood:
3	chr2:113524833..113528403-chr2:113530535..113535066,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10167914	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10496444	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10496445	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11676014	0.86[ASN][1000 genomes]
rs11687624	0.89[ASN][1000 genomes]
rs12471565	0.86[EUR][1000 genomes]
rs12478842	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12612788	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12711741	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13009294	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13027814	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1533463	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609682	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1969294	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071373	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071376	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783512	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783513	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783521	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783525	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783526	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783533	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783539	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783543	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783546	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783550	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4402765	0.84[EUR][1000 genomes]
rs4848301	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4848302	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542095	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7369378	0.86[ASN][1000 genomes]
rs74182856	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv3436785	chr2:113533106-113535654	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3390387	chr2:113533281-113535579	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2518569	chr2:113533595-113535001	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3354690	chr2:113533781-113535129	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3389855	chr2:113533951-113534632	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113522800-113541600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113523400-113539200	Weak transcription	Hela-S3	cervix
3	chr2:113523800-113534600	Weak transcription	HMEC	breast
4	chr2:113526800-113537800	Weak transcription	NHDF-Ad	bronchial
5	chr2:113530200-113534600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:113530200-113541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:113530400-113538600	Weak transcription	K562	blood
8	chr2:113531600-113534800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:113532200-113534400	Strong transcription	NHEK	skin
10	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:113533600-113535200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:113533600-113535400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:113533600-113535400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:113533800-113534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:113533800-113535200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:113534000-113534600	Weak transcription	Primary T cells from cord blood	blood
18	chr2:113534000-113538800	Weak transcription	GM12878-XiMat	blood
19	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart

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