Variant report

Variant	rs2416048
Chromosome Location	chr14:47801721-47801722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10483578	0.82[ASN][1000 genomes]
rs10483579	0.82[ASN][1000 genomes]
rs12433443	0.91[ASN][1000 genomes]
rs12433937	0.82[ASN][1000 genomes]
rs12436524	0.83[ASN][1000 genomes]
rs12436721	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586900	0.83[EUR][1000 genomes]
rs12885665	0.91[AFR][1000 genomes]
rs12890770	0.82[AFR][1000 genomes]
rs17118298	0.82[ASN][1000 genomes]
rs17118353	0.97[ASN][1000 genomes]
rs17118368	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs17118371	1.00[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17118372	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17118432	0.88[ASN][1000 genomes]
rs17118453	0.83[ASN][1000 genomes]
rs17671662	0.82[ASN][1000 genomes]
rs17671826	0.82[ASN][1000 genomes]
rs17671953	0.82[ASN][1000 genomes]
rs17672024	0.82[ASN][1000 genomes]
rs17674501	0.83[ASN][1000 genomes]
rs17739532	0.82[ASN][1000 genomes]
rs17739605	0.82[ASN][1000 genomes]
rs17739629	0.82[ASN][1000 genomes]
rs17739979	0.82[ASN][1000 genomes]
rs17740878	0.88[ASN][1000 genomes]
rs17740979	0.91[ASN][1000 genomes]
rs17742627	0.83[ASN][1000 genomes]
rs1806787	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1815638	0.88[ASN][1000 genomes]
rs2277472	0.97[ASN][1000 genomes]
rs34021479	0.86[EUR][1000 genomes]
rs35487985	0.84[AFR][1000 genomes]
rs7148112	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7151248	0.82[ASN][1000 genomes]
rs7152122	0.82[ASN][1000 genomes]
rs7152633	0.82[ASN][1000 genomes]
rs7154882	0.91[ASN][1000 genomes]
rs7160311	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs72682175	0.82[ASN][1000 genomes]
rs72682176	0.82[ASN][1000 genomes]
rs72682197	0.82[ASN][1000 genomes]
rs72683805	0.82[ASN][1000 genomes]
rs72683858	0.88[ASN][1000 genomes]
rs72683876	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048316	chr14:47297113-47885723	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1046326	chr14:47629646-47845903	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv530661	chr14:47754197-47937396	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv498118	chr14:47754197-48274409	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47797400-47804000	Weak transcription	Fetal Brain Male	brain
2	chr14:47800600-47802000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:47801200-47802200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:47801400-47801800	Enhancers	Adipose Nuclei	Adipose
5	chr14:47801400-47801800	Enhancers	Brain Angular Gyrus	brain
6	chr14:47801400-47801800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr14:47801400-47802200	Enhancers	Brain Anterior Caudate	brain
8	chr14:47801400-47802400	Enhancers	Brain Hippocampus Middle	brain
9	chr14:47801600-47802200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:47801600-47812000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links