Variant report

Variant	rs73976413
Chromosome Location	chr2:180426749-180426750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11888508	1.00[ASN][1000 genomes]
rs1515295	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515299	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515300	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866773	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866776	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866777	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17749412	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17816284	1.00[ASN][1000 genomes]
rs3112925	0.83[AMR][1000 genomes]
rs55680850	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6709838	1.00[ASN][1000 genomes]
rs73976405	0.80[EUR][1000 genomes]
rs73976409	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976410	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976412	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976414	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7424301	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594895	0.83[EUR][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	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv523865	chr2:180403128-180426764	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2760587	chr2:180409470-180430552	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1009492	chr2:180418199-180429152	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv1013108	chr2:180418199-180430057	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	nsv1008996	chr2:180418199-180430552	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180417000-180426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:180421600-180426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:180423000-180427000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:180423200-180426800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:180423200-180426800	Weak transcription	Fetal Kidney	kidney
7	chr2:180423600-180426800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:180423800-180427000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:180424200-180427200	Weak transcription	Pancreas	Pancrea
10	chr2:180425000-180427400	Flanking Active TSS	HepG2	liver
11	chr2:180425400-180427200	Active TSS	Psoas Muscle	Psoas
12	chr2:180425600-180426800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:180425800-180427200	Active TSS	Liver	Liver
14	chr2:180425800-180427400	Active TSS	Right Atrium	heart
15	chr2:180426400-180427000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:180426600-180426800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:180426600-180427400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:180426600-180427400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:180426600-180427400	Enhancers	Fetal Brain Male	brain
20	chr2:180426600-180427600	Enhancers	Fetal Heart	heart

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