Variant report

Variant	rs73242667
Chromosome Location	chr4:58030988-58030989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12501536	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12501656	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12510725	0.86[ASN][1000 genomes]
rs12641603	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12647861	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12651013	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34892607	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56366028	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73242666	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73818645	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7654584	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7666418	0.96[ASN][1000 genomes]
rs7676099	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7676319	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7677407	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv594207	chr4:57987433-58098554	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58029600-58031000	Enhancers	Fetal Heart	heart
2	chr4:58030400-58034600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:58030400-58034800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:58030400-58034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:58030600-58031000	Enhancers	Ovary	ovary
6	chr4:58030600-58031200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr4:58030600-58032600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:58030600-58034200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:58030800-58031000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr4:58030800-58031000	Active TSS	Brain Anterior Caudate	brain
11	chr4:58030800-58031000	Enhancers	Brain Cingulate Gyrus	brain
12	chr4:58030800-58031000	Enhancers	Brain Hippocampus Middle	brain
13	chr4:58030800-58031000	Enhancers	Brain Substantia Nigra	brain
14	chr4:58030800-58031200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr4:58030800-58031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:58030800-58031400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr4:58030800-58034200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:58030800-58034600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:58030800-58034800	Weak transcription	Brain Inferior Temporal Lobe	brain

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Input of quick search could be:

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

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