Variant report

Variant	rs12066449
Chromosome Location	chr1:222142256-222142257
allele	C/T
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:16)

rs_ID	r²[population]
rs10218472	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11118906	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11118907	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11118908	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12058838	0.97[ASN][1000 genomes]
rs1416893	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2378500	0.97[ASN][1000 genomes]
rs2790743	0.80[ASN][1000 genomes]
rs2790752	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2790753	0.97[ASN][1000 genomes]
rs2790760	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2800846	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2994035	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3010843	0.97[ASN][1000 genomes]
rs3124673	0.97[ASN][1000 genomes]
rs34308781	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222136000-222142400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:222136400-222142400	Weak transcription	HSMM	muscle
3	chr1:222138200-222146000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:222139000-222142600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:222139000-222152200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:222139200-222142400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:222139200-222142400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:222139200-222143600	Weak transcription	Stomach Mucosa	stomach
9	chr1:222139200-222145000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:222139400-222142400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:222139400-222145200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:222140600-222142400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:222140600-222142600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:222141000-222145800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:222141200-222145000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:222141600-222142400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:222141600-222143800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr1:222141800-222142400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:222142200-222142600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:222142200-222143000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:222142200-222144200	Enhancers	Hela-S3	cervix

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