Variant report

Variant	rs73494285
Chromosome Location	chr13:53456944-53456945
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:13)

rs_ID	r²[population]
rs11840632	1.00[AMR][1000 genomes]
rs11842169	1.00[AMR][1000 genomes]
rs564456	1.00[AMR][1000 genomes]
rs57622965	1.00[AMR][1000 genomes]
rs58221735	1.00[AMR][1000 genomes]
rs59233409	1.00[AMR][1000 genomes]
rs73494246	1.00[AMR][1000 genomes]
rs73494253	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494254	1.00[AMR][1000 genomes]
rs73494260	1.00[AMR][1000 genomes]
rs73494292	1.00[AMR][1000 genomes]
rs73494295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496392	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv455889	chr13:53419139-53466127	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv561661	chr13:53419139-53466127	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv900090	chr13:53429453-53495715	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53453200-53466600	Weak transcription	Fetal Brain Female	brain
2	chr13:53454200-53457400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:53454600-53458000	Weak transcription	Brain Germinal Matrix	brain
4	chr13:53455400-53457000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr13:53455400-53457800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr13:53455400-53458200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr13:53455400-53458600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr13:53455600-53457000	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:53455600-53457600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr13:53455600-53458200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:53456200-53457200	Weak transcription	Aorta	Aorta
12	chr13:53456400-53457400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr13:53456400-53457600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:53456400-53458200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr13:53456400-53458400	Enhancers	ES-I3 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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