Variant report

Variant	rs73345001
Chromosome Location	chr5:126712871-126712872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1529468	0.89[AFR][1000 genomes]
rs55804356	0.81[AFR][1000 genomes]
rs59903147	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346940	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783764	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126706200-126719400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:126707800-126725400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:126707800-126729000	Weak transcription	Brain Substantia Nigra	brain
5	chr5:126707800-126731600	Weak transcription	Brain Anterior Caudate	brain
6	chr5:126710000-126713400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:126710000-126713600	Weak transcription	HSMMtube	muscle
8	chr5:126710000-126715200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:126710000-126721800	Weak transcription	HSMM	muscle
10	chr5:126710000-126731800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:126710200-126716000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:126710200-126741200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:126710400-126715200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:126710400-126719600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:126710600-126719600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:126710800-126719000	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:126711800-126724800	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:126712800-126734200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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