Variant report

Variant	rs12042044
Chromosome Location	chr1:169503650-169503651
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12022009	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12040141	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13306334	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16862176	0.82[EUR][1000 genomes]
rs16862180	0.82[EUR][1000 genomes]
rs2301517	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6008	0.95[EUR][1000 genomes]
rs66737090	0.95[EUR][1000 genomes]
rs7551623	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9332623	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9332624	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9332628	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9332647	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9332658	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332678	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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 target site	56 gene(s)	inside rSNPs	diseases
2	nsv872533	chr1:169490401-169508576	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169485400-169510600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:169496000-169515200	Strong transcription	Liver	Liver
3	chr1:169498400-169524000	Weak transcription	Placenta	Placenta
4	chr1:169498600-169506200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:169498600-169507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:169499000-169504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:169499000-169508400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:169499000-169519000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:169500000-169504600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:169500200-169526800	Weak transcription	Left Ventricle	heart
11	chr1:169501600-169504000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:169501800-169504000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:169502800-169504000	Weak transcription	HepG2	liver
14	chr1:169503400-169507400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:169503600-169505200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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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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