Variant report

Variant	rs12038209
Chromosome Location	chr1:171281129-171281130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10912718	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10912745	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10912749	0.81[ASN][1000 genomes]
rs10912756	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12022278	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12022340	0.83[EUR][1000 genomes]
rs12049309	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12118836	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12124080	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12127128	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12954	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16864339	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2076320	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3766654	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72714189	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs732005	0.87[AMR][1000 genomes];0.95[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:171266600-171288400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:171276200-171282600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:171277600-171282600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:171280000-171283400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:171280200-171282400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:171280200-171282600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:171280200-171282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:171280200-171282600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:171280400-171282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:171280400-171283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:171280400-171283200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:171280600-171282800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:171280800-171283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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