Variant report

Variant	rs4767757
Chromosome Location	chr12:119440825-119440826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10851060	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10851061	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851062	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11069220	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11069223	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11069224	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11069225	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11069226	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12099608	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12321836	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1405047	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1525945	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1525946	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1525947	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1525948	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1525957	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1976923	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2177838	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2393466	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4357755	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4523746	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4526826	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4767756	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767758	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4767759	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6490220	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490221	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490227	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6490228	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6490229	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66694569	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7133570	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7294812	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7298175	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7298478	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7306122	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7306928	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7308063	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7312999	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7313274	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7962190	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs869716	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs940913	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs940914	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs940915	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv438238	chr12:119435753-119441212	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3492952	chr12:119440561-119442925	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
6	esv3492974	chr12:119440612-119442895	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3492940	chr12:119440623-119442884	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases
8	esv3492963	chr12:119440633-119442844	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
9	esv3492985	chr12:119440693-119442817	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
10	nsv826526	chr12:119440794-119442757	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases
11	nsv826527	chr12:119440794-119442796	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119428000-119443000	Weak transcription	Fetal Brain Male	brain
2	chr12:119437200-119444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:119439200-119441400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:119440400-119441600	Genic enhancers	Fetal Brain Female	brain
5	chr12:119440600-119443800	Enhancers	Brain Germinal Matrix	brain
6	chr12:119440600-119444800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:119440800-119441000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr12:119440800-119441000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:119440800-119441000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:119440800-119446800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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