Variant report

Variant	rs12474924
Chromosome Location	chr2:77857279-77857280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11679105	1.00[ASN][1000 genomes]
rs11679151	1.00[ASN][1000 genomes]
rs11691785	0.98[ASN][1000 genomes]
rs11692744	0.95[ASN][1000 genomes]
rs12053133	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12464009	0.93[ASN][1000 genomes]
rs12472178	0.98[ASN][1000 genomes]
rs12472973	0.95[ASN][1000 genomes]
rs12476288	0.98[ASN][1000 genomes]
rs12612438	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12613776	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12613847	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12623256	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34364216	0.98[ASN][1000 genomes]
rs35784775	0.98[ASN][1000 genomes]
rs4278957	1.00[ASN][1000 genomes]
rs4278958	1.00[ASN][1000 genomes]
rs4280483	1.00[ASN][1000 genomes]
rs4444561	0.81[AMR][1000 genomes]
rs4485592	0.98[ASN][1000 genomes]
rs4571081	1.00[ASN][1000 genomes]
rs4577308	1.00[ASN][1000 genomes]
rs4580407	1.00[ASN][1000 genomes]
rs4585054	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4852438	1.00[ASN][1000 genomes]
rs4852439	1.00[ASN][1000 genomes]
rs4853328	0.98[ASN][1000 genomes]
rs58661963	0.93[ASN][1000 genomes]
rs59786448	0.93[ASN][1000 genomes]
rs60252241	0.93[ASN][1000 genomes]
rs61006856	0.93[ASN][1000 genomes]
rs61331518	0.98[ASN][1000 genomes]
rs62161498	1.00[ASN][1000 genomes]
rs62161514	0.98[ASN][1000 genomes]
rs62161515	0.98[ASN][1000 genomes]
rs62161516	0.98[ASN][1000 genomes]
rs62161517	0.98[ASN][1000 genomes]
rs62161519	0.98[ASN][1000 genomes]
rs62161522	0.87[ASN][1000 genomes]
rs62161525	0.98[ASN][1000 genomes]
rs62161527	0.98[ASN][1000 genomes]
rs62161529	0.98[ASN][1000 genomes]
rs62161532	0.95[ASN][1000 genomes]
rs62161533	0.93[ASN][1000 genomes]
rs62161534	0.93[ASN][1000 genomes]
rs62161535	0.93[ASN][1000 genomes]
rs62161536	0.93[ASN][1000 genomes]
rs66608268	1.00[ASN][1000 genomes]
rs6705597	0.98[ASN][1000 genomes]
rs67075291	0.98[ASN][1000 genomes]
rs6726783	1.00[ASN][1000 genomes]
rs6743172	0.98[ASN][1000 genomes]
rs6743185	0.93[ASN][1000 genomes]
rs6743411	0.98[ASN][1000 genomes]
rs67489134	0.85[ASN][1000 genomes]
rs6752994	0.98[ASN][1000 genomes]
rs67867986	0.98[ASN][1000 genomes]
rs72813177	0.98[ASN][1000 genomes]
rs72925962	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518504	chr2:77326832-78172786	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1004938	chr2:77347740-78186543	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv535783	chr2:77347740-78186543	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv529904	chr2:77347741-78186542	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv997329	chr2:77354560-78176285	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv874339	chr2:77683562-77872197	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv834268	chr2:77786202-77932056	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv582259	chr2:77787896-77857764	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv874341	chr2:77787896-77909563	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv874343	chr2:77848881-77899045	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2757810	chr2:77855098-78101551	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2759067	chr2:77855098-78101551	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77856200-77857400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:77856600-77857400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:77856600-77857400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:77856600-77857400	Enhancers	Fetal Heart	heart
5	chr2:77856600-77857400	Enhancers	HepG2	liver
6	chr2:77856800-77857400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:77856800-77857400	Enhancers	Brain Angular Gyrus	brain
8	chr2:77856800-77857400	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:77856800-77857400	Enhancers	Brain Germinal Matrix	brain
10	chr2:77856800-77858200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:77857000-77857400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:77857000-77857600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:77857200-77857600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:77857200-77857600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:77857200-77857600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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