Variant report

Variant	rs62262676
Chromosome Location	chr3:49673855-49673856
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49654340..49656120-chr3:49672426..49675250,2	K562	blood:
2	chr3:49673401..49676066-chr3:49680626..49682586,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs41290716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62259941	1.00[AFR][1000 genomes]
rs62259945	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62260717	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62261251	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62262670	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62262682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1011428	chr3:49649989-49706068	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv3812	chr3:49669773-49680587	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49655600-49676200	Weak transcription	HepG2	liver
2	chr3:49657600-49685400	Weak transcription	Brain Substantia Nigra	brain
3	chr3:49660800-49682600	Weak transcription	Liver	Liver
4	chr3:49661600-49692400	Weak transcription	Ovary	ovary
5	chr3:49661800-49682200	Weak transcription	Fetal Brain Male	brain
6	chr3:49662800-49685000	Weak transcription	Right Ventricle	heart
7	chr3:49663800-49679600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:49664200-49683200	Weak transcription	Pancreas	Pancrea
9	chr3:49664600-49674000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:49664600-49680000	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:49667200-49674000	Weak transcription	Brain Anterior Caudate	brain
12	chr3:49667600-49679800	Weak transcription	Brain Germinal Matrix	brain
13	chr3:49669400-49674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:49669400-49692000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:49669600-49679400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:49669600-49679800	Weak transcription	Fetal Brain Female	brain
17	chr3:49669600-49680000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:49670000-49680000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:49672800-49676000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:49673400-49676000	Enhancers	K562	blood
21	chr3:49673400-49676200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:49673600-49674000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:49673600-49675600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:49673800-49674200	Enhancers	GM12878-XiMat	blood
25	chr3:49673800-49675000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr3:49673800-49675600	Enhancers	Brain Angular Gyrus	brain
27	chr3:49673800-49676400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:49673800-49676600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:49673800-49676600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:49673800-49676800	Enhancers	NHEK	skin
31	chr3:49673800-49692400	Weak transcription	Gastric	stomach

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