Variant report

Variant	rs4348994
Chromosome Location	chr12:24786718-24786719
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:24778539..24781308-chr12:24783794..24786974,3	K562	blood:
2	chr12:24779808..24782444-chr12:24784354..24787104,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10743510	1.00[EUR][1000 genomes]
rs10771101	1.00[EUR][1000 genomes]
rs10771102	1.00[EUR][1000 genomes]
rs1115525	1.00[EUR][1000 genomes]
rs1386641	1.00[EUR][1000 genomes]
rs1386643	1.00[EUR][1000 genomes]
rs1487652	1.00[EUR][1000 genomes]
rs1872642	1.00[EUR][1000 genomes]
rs1872643	1.00[EUR][1000 genomes]
rs2200502	1.00[EUR][1000 genomes]
rs2354628	1.00[EUR][1000 genomes]
rs2883333	1.00[EUR][1000 genomes]
rs2955480	1.00[EUR][1000 genomes]
rs2955482	1.00[EUR][1000 genomes]
rs2955483	1.00[EUR][1000 genomes]
rs2970414	1.00[EUR][1000 genomes]
rs2970416	1.00[EUR][1000 genomes]
rs3110019	1.00[EUR][1000 genomes]
rs3110020	1.00[EUR][1000 genomes]
rs3112129	1.00[EUR][1000 genomes]
rs3112130	1.00[EUR][1000 genomes]
rs3112131	1.00[EUR][1000 genomes]
rs4029339	1.00[EUR][1000 genomes]
rs4255625	1.00[EUR][1000 genomes]
rs4963585	1.00[EUR][1000 genomes]
rs4963800	1.00[EUR][1000 genomes]
rs6487402	1.00[EUR][1000 genomes]
rs7136296	1.00[EUR][1000 genomes]
rs7136885	1.00[EUR][1000 genomes]
rs7980315	1.00[EUR][1000 genomes]
rs936901	1.00[EUR][1000 genomes]
rs962728	1.00[EUR][1000 genomes]
rs997025	1.00[EUR][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	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1046463	chr12:24538432-24916851	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv915555	chr12:24666481-24952013	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv1053309	chr12:24770995-25078227	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24783600-24788000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:24785600-24788400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links