Variant report

Variant	rs73426041
Chromosome Location	chr18:44777076-44777077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2668783	1.00[ASN][1000 genomes]
rs2684817	1.00[ASN][1000 genomes]
rs73440149	1.00[ASN][1000 genomes]
rs73442827	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73442851	1.00[AMR][1000 genomes]
rs73442856	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1794744	chr18:44774077-44788908	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1797427	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1835264	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1839014	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1819372	chr18:44774673-44799515	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr18:44775600-44777600	Weak transcription	Pancreas	Pancrea
2	chr18:44776400-44778200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr18:44776600-44777600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr18:44776600-44777600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:44776800-44777200	Bivalent Enhancer	Right Ventricle	heart
6	chr18:44777000-44777200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:44777000-44777200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr18:44777000-44777200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr18:44777000-44777200	Bivalent Enhancer	Brain Anterior Caudate	brain
10	chr18:44777000-44777200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr18:44777000-44777200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr18:44777000-44777400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:44777000-44777400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:44777000-44777600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr18:44777000-44777600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:44777000-44777800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr18:44777000-44778200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr18:44777000-44778200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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