Variant report

Variant	rs12438524
Chromosome Location	chr15:53030762-53030763
allele	A/C
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:11)

rs_ID	r²[population]
rs12437633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439014	0.83[AMR][1000 genomes]
rs12439740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440403	1.00[ASN][1000 genomes]
rs17652272	0.83[AMR][1000 genomes]
rs74014119	1.00[EUR][1000 genomes]
rs7496443	1.00[EUR][1000 genomes]
rs8037939	1.00[EUR][1000 genomes]
rs8038634	1.00[EUR][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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1049144	chr15:52995637-53039179	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1049619	chr15:52995637-53041887	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv569425	chr15:53001538-53038488	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv569426	chr15:53014003-53046210	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	5 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	chr15:53024000-53030800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:53026000-53037400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr15:53026200-53038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:53027800-53031200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:53029400-53030800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:53029400-53030800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr15:53029600-53030800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:53029800-53030800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:53029800-53030800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr15:53029800-53030800	Enhancers	HMEC	breast
11	chr15:53030000-53030800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:53030000-53030800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:53030000-53030800	Enhancers	Osteobl	bone
14	chr15:53030400-53030800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:53030400-53030800	Enhancers	NHDF-Ad	bronchial
16	chr15:53030600-53030800	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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