Variant report

Variant	rs72724138
Chromosome Location	chr1:185291160-185291161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72724115	1.00[ASN][1000 genomes]
rs72724141	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724144	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185287400-185291400	Weak transcription	Fetal Brain Female	brain
2	chr1:185287600-185298200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:185287800-185298200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:185288200-185291800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:185288200-185292800	Weak transcription	HepG2	liver
6	chr1:185288400-185294400	Weak transcription	Fetal Heart	heart
7	chr1:185290000-185291800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:185290400-185291600	Weak transcription	Fetal Intestine Small	intestine
9	chr1:185290800-185291200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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