Variant report

Variant	rs13004573
Chromosome Location	chr2:55093013-55093014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11680118	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12991420	0.93[ASN][1000 genomes]
rs12997215	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13005511	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13020090	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs35579392	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35619447	0.93[ASN][1000 genomes]
rs35727501	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56386746	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545450	0.96[ASN][1000 genomes]
rs71413277	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1796192	chr2:55081033-55110969	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55068400-55096200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:55073400-55093800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:55087000-55098600	Weak transcription	HepG2	liver
8	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:55088000-55096000	Weak transcription	Psoas Muscle	Psoas
10	chr2:55088200-55098800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:55092000-55098800	Weak transcription	Liver	Liver
12	chr2:55092400-55111000	Weak transcription	Pancreas	Pancrea
13	chr2:55093000-55097000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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