Variant report

Variant	rs72951496
Chromosome Location	chr6:53866463-53866464
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55638634	1.00[AMR][1000 genomes]
rs72943887	1.00[AMR][1000 genomes]
rs72943896	1.00[AMR][1000 genomes]
rs72945727	1.00[AMR][1000 genomes]
rs72951458	1.00[AMR][1000 genomes]
rs72953437	1.00[AMR][1000 genomes]
rs72961910	1.00[AMR][1000 genomes]
rs72961912	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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr6:53852400-53867800	Weak transcription	Fetal Heart	heart
2	chr6:53861000-53867200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:53862000-53870000	Weak transcription	Aorta	Aorta
4	chr6:53864000-53867800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:53864200-53866600	Weak transcription	NHEK	skin
6	chr6:53864200-53867200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:53864200-53867800	Weak transcription	Adipose Nuclei	Adipose
8	chr6:53864400-53867000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:53864400-53874400	Weak transcription	Psoas Muscle	Psoas
10	chr6:53864400-53875000	Weak transcription	Left Ventricle	heart
11	chr6:53865200-53873200	Weak transcription	Liver	Liver
12	chr6:53865800-53868000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:53866000-53866800	Enhancers	HUVEC	blood vessel
14	chr6:53866200-53866800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:53866200-53868400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:53866200-53869200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:53866400-53867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:53866400-53869000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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

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