Variant report

Variant	rs7569047
Chromosome Location	chr2:142256217-142256218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10169644	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10169745	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10173806	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10204321	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10204413	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10204727	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10928105	0.96[ASN][1000 genomes]
rs11895715	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12053264	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053266	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12053452	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053570	0.96[ASN][1000 genomes]
rs12053574	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12151429	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12151669	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12472514	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12611851	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12622205	0.82[ASN][1000 genomes]
rs13007713	0.96[ASN][1000 genomes]
rs13013202	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13023434	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411666	0.85[ASN][1000 genomes]
rs13418036	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13418422	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16846151	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34333390	0.80[EUR][1000 genomes]
rs4245858	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4271710	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4296374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4327189	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4338922	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4340449	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4384715	0.86[ASN][1000 genomes]
rs4430882	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4476293	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4507040	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4544370	0.84[ASN][1000 genomes]
rs4583399	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4599051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4644970	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4954910	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4954912	0.81[EUR][1000 genomes]
rs60118950	0.81[ASN][1000 genomes]
rs62166338	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62167876	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6429887	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6429889	0.81[ASN][1000 genomes]
rs6429890	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6429891	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6429892	0.93[ASN][1000 genomes]
rs6429894	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6725282	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6729073	0.96[ASN][1000 genomes]
rs6729618	0.96[ASN][1000 genomes]
rs6729691	0.94[ASN][1000 genomes]
rs6738081	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6759197	0.80[EUR][1000 genomes]
rs68142404	0.86[ASN][1000 genomes]
rs72849086	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7340298	0.95[ASN][1000 genomes]
rs7340300	0.89[ASN][1000 genomes]
rs7340384	0.94[ASN][1000 genomes]
rs7583765	0.86[ASN][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	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv875243	chr2:142219033-142259592	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv459607	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv583207	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv459618	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv583209	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv470491	chr2:142254119-142299923	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv821740	chr2:142255019-142259467	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv441788	chr2:142255282-142257002	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142239400-142256400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:142249600-142257600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:142254800-142257800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:142255000-142256800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:142255400-142256400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:142255400-142256600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:142255600-142257000	Enhancers	NH-A	brain
9	chr2:142256000-142257000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:142256000-142257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:142256000-142257800	Enhancers	Fetal Heart	heart
12	chr2:142256000-142258800	Weak transcription	Dnd41	blood
13	chr2:142256200-142256400	Enhancers	Brain Hippocampus Middle	brain

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