Variant report

Variant	rs56078725
Chromosome Location	chr3:139013918-139013919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:139012834..139014774-chr3:139021817..139024693,2	K562	blood:
2	chr3:139007080..139008631-chr3:139011861..139014744,2	K562	blood:
3	chr3:138955975..138958174-chr3:139012172..139014447,2	K562	blood:
4	chr3:138980020..138982688-chr3:139013895..139016069,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55700769	0.97[AFR][1000 genomes]
rs55900114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56061174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56091003	0.97[AFR][1000 genomes]
rs56126310	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56187532	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591856	chr3:139000844-139037832	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1005158	chr3:139001736-139073011	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139007800-139018000	Weak transcription	Gastric	stomach
2	chr3:139009600-139014600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:139010000-139014800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:139010200-139014400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:139011200-139014400	Enhancers	HSMMtube	muscle
6	chr3:139011800-139014600	Weak transcription	K562	blood
7	chr3:139012000-139017800	Weak transcription	HSMM	muscle
8	chr3:139012200-139015200	Weak transcription	Pancreas	Pancrea
9	chr3:139012400-139014800	Genic enhancers	NHDF-Ad	bronchial
10	chr3:139012600-139016200	Weak transcription	Osteobl	bone
11	chr3:139012600-139018000	Weak transcription	HMEC	breast
12	chr3:139013200-139014400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:139013200-139017800	Weak transcription	NHLF	lung
14	chr3:139013200-139018200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:139013400-139015600	Weak transcription	Hela-S3	cervix
16	chr3:139013400-139015800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:139013600-139015600	Enhancers	Ovary	ovary
18	chr3:139013800-139014000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:139013800-139014000	Enhancers	Left Ventricle	heart
20	chr3:139013800-139014600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:139013800-139014600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr3:139013800-139015400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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