Variant report

Variant	rs12044669
Chromosome Location	chr1:169517385-169517386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12026997	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13306331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420374	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58875232	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67790508	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7537742	1.00[ASN][1000 genomes]
rs9332592	0.90[AMR][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	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169498400-169524000	Weak transcription	Placenta	Placenta
2	chr1:169499000-169519000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:169500200-169526800	Weak transcription	Left Ventricle	heart
4	chr1:169505800-169534800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:169506200-169542800	Weak transcription	Right Ventricle	heart
6	chr1:169507000-169530800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:169511000-169520000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:169513600-169525800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:169515800-169518000	Weak transcription	HepG2	liver
10	chr1:169516000-169531400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:169516400-169517600	Strong transcription	Liver	Liver
12	chr1:169517000-169518000	Enhancers	Fetal Intestine Large	intestine
13	chr1:169517200-169517400	Enhancers	Fetal Intestine Small	intestine
14	chr1:169517200-169517600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:169517200-169517600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:169517200-169519200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:169517200-169519400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:169517200-169530400	Strong transcription	Primary monocytes fromperipheralblood	blood

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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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