Variant report

Variant	rs13030953
Chromosome Location	chr2:142314253-142314254
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	chr2:142308972..142312076-chr2:142313360..142316898,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10496884	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11674506	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11675776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11695833	1.00[EUR][1000 genomes]
rs12992656	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12992971	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12993733	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12993821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13001306	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13006974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009586	1.00[CEU][hapmap]
rs13018345	0.82[CEU][hapmap]
rs1471675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17548023	1.00[CEU][hapmap]
rs17552442	1.00[CEU][hapmap]
rs17616060	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17734546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17735355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17735650	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17735674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17791242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17791266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17791619	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17791774	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17792070	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1842932	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2890614	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs35007711	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35148968	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35155989	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36057199	0.84[EUR][1000 genomes]
rs4340448	1.00[CEU][hapmap]
rs4363970	1.00[CEU][hapmap]
rs4588128	1.00[CEU][hapmap]
rs6429882	1.00[CEU][hapmap]
rs66461219	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717454	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6740704	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6741998	1.00[CEU][hapmap]
rs6746208	1.00[CEU][hapmap]
rs6748629	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6759190	1.00[CEU][hapmap]
rs68002957	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72855404	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7576298	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7579093	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7579392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7585876	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7592963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7592987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	nsv459640	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv583213	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv583214	chr2:142299923-142458316	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142312200-142314600	Enhancers	Brain Substantia Nigra	brain
2	chr2:142313600-142314400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:142313600-142315800	Enhancers	NH-A	brain
4	chr2:142313600-142316000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:142313800-142314400	Enhancers	Fetal Stomach	stomach
6	chr2:142313800-142315800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:142313800-142316000	Enhancers	HMEC	breast
8	chr2:142314000-142315000	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:142314200-142314800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:142314200-142315200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:142314200-142315200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:142314200-142315800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:142314200-142316000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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