Variant report

Variant	rs12453422
Chromosome Location	chr17:66804453-66804454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1107769	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11653085	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12451027	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12453866	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16967220	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28690290	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55734961	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57913837	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59686015	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60787647	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62085642	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62085659	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501738	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7213475	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv575927	chr17:66787428-66817866	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66788000-66805800	Weak transcription	Right Atrium	heart
2	chr17:66800000-66805600	Weak transcription	Fetal Heart	heart
3	chr17:66802600-66805600	Enhancers	Fetal Stomach	stomach
4	chr17:66803200-66804800	Enhancers	Fetal Muscle Leg	muscle
5	chr17:66803200-66806000	Enhancers	Adipose Nuclei	Adipose
6	chr17:66803400-66804600	Enhancers	Fetal Lung	lung
7	chr17:66803600-66804600	Enhancers	NHDF-Ad	bronchial
8	chr17:66803600-66805000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:66804000-66805400	Weak transcription	Fetal Brain Male	brain
10	chr17:66804200-66804600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:66804200-66804800	Enhancers	Psoas Muscle	Psoas
12	chr17:66804200-66805200	Enhancers	HSMMtube	muscle
13	chr17:66804400-66805400	Weak transcription	Ovary	ovary
14	chr17:66804400-66807000	Weak transcription	Liver	Liver
15	chr17:66804400-66809200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:66804400-66809200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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