Variant report

Variant	rs57714274
Chromosome Location	chr18:44258926-44258927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10502875	0.85[EUR][1000 genomes]
rs11082549	0.90[ASN][1000 genomes]
rs11082550	0.89[ASN][1000 genomes]
rs12454493	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12457282	0.94[ASN][1000 genomes]
rs12458591	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16939921	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16960377	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34009866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744861	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs532849	0.86[ASN][1000 genomes]
rs57043929	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57266350	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs619376	0.90[ASN][1000 genomes]
rs632814	0.85[ASN][1000 genomes]
rs634070	0.83[ASN][1000 genomes]
rs662191	0.86[ASN][1000 genomes]
rs73433027	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv15009	chr18:44222960-44263857	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv515609	chr18:44223365-44263237	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1056493	chr18:44224972-44259409	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1064019	chr18:44224972-44263237	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1065369	chr18:44224972-44263913	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1058904	chr18:44224972-44264578	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1060496	chr18:44229485-44263237	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:44253600-44269600	Weak transcription	Brain Angular Gyrus	brain
3	chr18:44254000-44269200	Weak transcription	Right Atrium	heart
4	chr18:44256600-44274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:44256800-44259600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr18:44256800-44263400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr18:44257200-44259800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:44257400-44259600	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:44257800-44259600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr18:44258200-44280000	Weak transcription	HSMMtube	muscle
11	chr18:44258600-44259200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr18:44258800-44259200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr18:44258800-44259400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr18:44258800-44260400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:44258800-44260400	Weak transcription	Right Ventricle	heart
16	chr18:44258800-44260800	Strong transcription	Brain Germinal Matrix	brain

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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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