Variant report

Variant	rs57312963
Chromosome Location	chr19:52647119-52647120
allele	A/G
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:12)

rs_ID	r²[population]
rs12462729	0.83[ASN][1000 genomes]
rs12608745	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609494	0.91[ASN][1000 genomes]
rs12611229	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35322037	0.83[ASN][1000 genomes]
rs35897677	0.83[ASN][1000 genomes]
rs36018306	0.82[ASN][1000 genomes]
rs58547594	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61641512	0.91[ASN][1000 genomes]
rs67664388	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72626251	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8106820	0.86[AFR][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	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52644000-52647200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:52644000-52650200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:52644000-52658000	Weak transcription	Fetal Kidney	kidney
4	chr19:52644000-52658400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:52644000-52658800	Weak transcription	Right Ventricle	heart
6	chr19:52644200-52656800	Weak transcription	Brain Germinal Matrix	brain
7	chr19:52644200-52658200	Weak transcription	Right Atrium	heart
8	chr19:52644400-52657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr19:52644400-52658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr19:52644600-52656800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:52645200-52647400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:52645200-52659400	Weak transcription	Placenta Amnion	Placenta Amnion

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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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