Variant report

Variant	rs61809300
Chromosome Location	chr1:180574650-180574651
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11806607	1.00[ASN][1000 genomes]
rs17373273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809278	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809279	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809280	1.00[AFR][1000 genomes]
rs61809299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809302	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809309	1.00[AFR][1000 genomes]
rs61811194	1.00[AFR][1000 genomes]
rs61811196	1.00[AFR][1000 genomes]
rs72720984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519345	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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180564800-180579600	Weak transcription	Right Atrium	heart
2	chr1:180568200-180579800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:180569800-180575400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:180573200-180575000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:180573400-180578400	Weak transcription	Pancreas	Pancrea
6	chr1:180573400-180578800	Weak transcription	Fetal Heart	heart
7	chr1:180573400-180578800	Weak transcription	HMEC	breast
8	chr1:180573400-180578800	Weak transcription	NHEK	skin
9	chr1:180573400-180579000	Weak transcription	Left Ventricle	heart
10	chr1:180573800-180578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:180574200-180575000	Enhancers	K562	blood
12	chr1:180574600-180575600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:180574600-180575800	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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