Variant report

Variant	rs34514277
Chromosome Location	chr3:70046407-70046408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr3:70046287-70047797	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:70045515..70047135-chr3:70047248..70050128,2	K562	blood:

Variant related genes	Relation type
ENSG00000240405	TF binding region
ENSG00000240405	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13062402	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13064441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13069643	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13071266	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13077347	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13080062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13081786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13086024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13094951	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13099113	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2131123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34313089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34584406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34771518	1.00[AFR][1000 genomes]
rs35066679	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35286473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35527992	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35541760	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36042309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66533134	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6809108	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73102056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73102066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73104062	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73104068	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70041200-70061000	Weak transcription	Aorta	Aorta
2	chr3:70041600-70047800	Weak transcription	Fetal Brain Male	brain
3	chr3:70045200-70046600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:70045200-70048000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:70045600-70049000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:70045800-70046600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:70045800-70047000	Weak transcription	Fetal Brain Female	brain
8	chr3:70045800-70048400	Enhancers	Brain Angular Gyrus	brain
9	chr3:70045800-70049600	Enhancers	Fetal Lung	lung
10	chr3:70045800-70050400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:70045800-70050600	Enhancers	Fetal Stomach	stomach
12	chr3:70046400-70047600	Enhancers	Brain Substantia Nigra	brain
13	chr3:70046400-70048000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:70046400-70048000	Enhancers	Brain Cingulate Gyrus	brain

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