Variant report

Variant	rs12300079
Chromosome Location	chr12:57273194-57273195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10783812	0.81[ASN][1000 genomes]
rs10876944	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172030	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172037	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11172043	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11172047	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11172056	0.81[ASN][1000 genomes]
rs11172057	0.81[ASN][1000 genomes]
rs12300191	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12321987	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12426816	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28876529	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4326839	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4417325	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4471472	0.80[EUR][1000 genomes]
rs4495925	0.80[EUR][1000 genomes]
rs4514464	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302420	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 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	chr12:57267400-57274200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:57268400-57274200	Weak transcription	Fetal Kidney	kidney
3	chr12:57271600-57273600	Enhancers	Placenta	Placenta
4	chr12:57272000-57274000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:57272000-57274000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:57272000-57274000	Weak transcription	HSMMtube	muscle
7	chr12:57272200-57274000	Weak transcription	Liver	Liver
8	chr12:57272200-57274000	Weak transcription	HSMM	muscle
9	chr12:57272400-57273400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
10	chr12:57272400-57274000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:57272400-57274000	Weak transcription	A549	lung
12	chr12:57272600-57273600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:57272600-57274000	Weak transcription	K562	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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