Variant report

Variant	rs62420338
Chromosome Location	chr6:71667568-71667569
allele	A/G
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	REST	chr6:71665188-71667576	H1-neurons	neurons:	n/a	chr6:71666201-71666210 chr6:71666241-71666259 chr6:71665355-71665368 chr6:71666194-71666207 chr6:71666243-71666256 chr6:71666190-71666210 chr6:71665351-71665371 chr6:71666197-71666210 chr6:71666240-71666260 chr6:71666240-71666260 chr6:71666240-71666249 chr6:71665351-71665371

Variant related genes	Relation type
B3GAT2	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10945273	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10945274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4707872	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs62420336	0.81[ASN][1000 genomes]
rs62420339	0.87[AFR][1000 genomes];0.97[ASN][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	nsv886148	chr6:71623253-71694742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3339485	chr6:71665256-71667804	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71663800-71667600	Active TSS	Brain Anterior Caudate	brain
2	chr6:71664200-71667600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:71664800-71667800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:71665000-71667600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:71665000-71667600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:71665600-71667600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:71666800-71668000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:71667000-71667600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr6:71667000-71667600	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr6:71667200-71667600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr6:71667400-71667600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:71667400-71667600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:71667400-71667600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:71667400-71667600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:71667400-71667600	Enhancers	Brain Hippocampus Middle	brain
16	chr6:71667400-71667600	Flanking Active TSS	Fetal Brain Male	brain
17	chr6:71667400-71667600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr6:71667400-71667800	Flanking Active TSS	Fetal Brain Female	brain
19	chr6:71667400-71667800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr6:71667400-71667800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr6:71667400-71668000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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