Variant report

Variant	rs73378530
Chromosome Location	chr15:33363519-33363520
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1349963	1.00[AMR][1000 genomes]
rs1378270	1.00[AMR][1000 genomes]
rs1378271	1.00[AMR][1000 genomes]
rs2339187	1.00[AMR][1000 genomes]
rs61301004	1.00[AMR][1000 genomes]
rs73376628	1.00[AMR][1000 genomes]
rs73376679	1.00[AMR][1000 genomes]
rs73376701	1.00[AMR][1000 genomes]
rs73378504	1.00[AMR][1000 genomes]
rs73378505	1.00[AMR][1000 genomes]
rs73378507	1.00[AMR][1000 genomes]
rs73378520	1.00[AMR][1000 genomes]
rs73378521	1.00[AMR][1000 genomes]
rs73378532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378540	0.82[AFR][1000 genomes]
rs73378542	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv568918	chr15:33244672-33446971	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv524708	chr15:33357262-33365334	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33361200-33378800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:33361400-33364600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:33361600-33366200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:33361600-33375600	Weak transcription	HSMM	muscle
5	chr15:33361800-33363800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:33361800-33364800	Weak transcription	Fetal Thymus	thymus
7	chr15:33361800-33366000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:33361800-33366200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:33361800-33366200	Weak transcription	NHLF	lung
10	chr15:33361800-33372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:33361800-33375600	Weak transcription	HSMMtube	muscle
12	chr15:33362000-33363800	Weak transcription	Thymus	Thymus
13	chr15:33362000-33376000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:33362200-33372200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:33362600-33375000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:33363000-33364000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:33363400-33363600	Enhancers	A549	lung
18	chr15:33363400-33363800	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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