Variant report

Variant	rs73999215
Chromosome Location	chr2:235069703-235069704
allele	A/G
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:19)

rs_ID	r²[population]
rs10174012	1.00[EUR][1000 genomes]
rs10177507	1.00[EUR][1000 genomes]
rs16850525	0.87[AFR][1000 genomes]
rs16850570	1.00[EUR][1000 genomes]
rs28903676	1.00[EUR][1000 genomes]
rs28903677	1.00[EUR][1000 genomes]
rs28903679	1.00[EUR][1000 genomes]
rs28903686	1.00[EUR][1000 genomes]
rs28903693	1.00[EUR][1000 genomes]
rs28903971	1.00[EUR][1000 genomes]
rs28903987	1.00[EUR][1000 genomes]
rs28903992	1.00[EUR][1000 genomes]
rs28903998	1.00[EUR][1000 genomes]
rs28904021	1.00[EUR][1000 genomes]
rs28948682	1.00[EUR][1000 genomes]
rs73113209	1.00[EUR][1000 genomes]
rs73124598	1.00[EUR][1000 genomes]
rs73124600	1.00[EUR][1000 genomes]
rs73124601	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998149	chr2:234978261-235086951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:235057400-235072800	Weak transcription	Thymus	Thymus
2	chr2:235061600-235072800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:235064000-235071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:235065200-235071200	Weak transcription	Fetal Thymus	thymus
5	chr2:235065200-235077000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:235065600-235078000	Weak transcription	Fetal Kidney	kidney
7	chr2:235067600-235072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:235067600-235077800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:235067800-235076600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:235068000-235072800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:235068200-235070000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:235068200-235070000	Weak transcription	NHEK	skin
13	chr2:235068200-235070200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:235068200-235070600	Weak transcription	A549	lung
15	chr2:235068200-235070800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:235068200-235072800	Weak transcription	HSMMtube	muscle
17	chr2:235068400-235070400	Weak transcription	HMEC	breast
18	chr2:235069600-235069800	Enhancers	Esophagus	oesophagus

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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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