Variant report

Variant	rs58420862
Chromosome Location	chr2:100934907-100934908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100933173..100935880-chr2:100936408..100940470,5	K562	blood:
2	chr2:100879370..100880923-chr2:100934269..100935814,2	MCF-7	breast:
3	chr2:100930355..100933148-chr2:100933747..100936603,2	K562	blood:
4	chr2:100933404..100936260-chr2:100953487..100956115,2	K562	blood:
5	chr2:100933393..100935880-chr2:100936498..100940045,4	K562	blood:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17023897	1.00[EUR][1000 genomes]
rs17023990	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17024021	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17024048	1.00[EUR][1000 genomes]
rs17024150	1.00[EUR][1000 genomes]
rs17024185	1.00[EUR][1000 genomes]
rs17024216	1.00[EUR][1000 genomes]
rs17353694	1.00[EUR][1000 genomes]
rs28827632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3948255	1.00[EUR][1000 genomes]
rs57669367	1.00[EUR][1000 genomes]
rs57710676	1.00[EUR][1000 genomes]
rs58242629	1.00[EUR][1000 genomes]
rs58658810	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59727890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60078624	1.00[EUR][1000 genomes]
rs61057466	1.00[EUR][1000 genomes]
rs61070099	1.00[EUR][1000 genomes]
rs6732784	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6743347	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72964116	0.89[EUR][1000 genomes]
rs7582424	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7605818	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2753837	chr2:100928086-100955814	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100901000-100937000	Weak transcription	Fetal Brain Male	brain
2	chr2:100918200-100937600	Weak transcription	Aorta	Aorta
3	chr2:100924200-100936800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:100924600-100936000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:100929800-100937000	Weak transcription	Pancreas	Pancrea
6	chr2:100930800-100937000	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:100931600-100935800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:100933000-100935200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:100933200-100935200	ZNF genes & repeats	A549	lung
10	chr2:100933200-100935600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr2:100933600-100935200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:100933800-100935000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr2:100934200-100935200	ZNF genes & repeats	K562	blood
14	chr2:100934600-100935200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:100934800-100935000	Enhancers	Brain Angular Gyrus	brain
16	chr2:100934800-100935200	Enhancers	Brain Anterior Caudate	brain
17	chr2:100934800-100935200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:100934800-100935200	ZNF genes & repeats	Ovary	ovary

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