Variant report

Variant	rs12512583
Chromosome Location	chr4:87005970-87005971
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10001162	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10002407	0.85[ASN][1000 genomes]
rs10023731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10027225	0.96[ASN][1000 genomes]
rs10028075	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10031752	0.88[ASN][1000 genomes]
rs1010778	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11097091	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11097092	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11929863	0.89[ASN][1000 genomes]
rs11934691	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1201	0.84[ASN][1000 genomes]
rs12502902	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12502934	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12644938	0.89[EUR][1000 genomes]
rs13103374	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13112959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13353771	0.91[ASN][1000 genomes]
rs1436521	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1436527	0.80[EUR][1000 genomes]
rs1469869	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1898248	0.96[ASN][1000 genomes]
rs1898249	0.89[ASN][1000 genomes]
rs1946733	0.89[ASN][1000 genomes]
rs2118044	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282596	0.92[ASN][1000 genomes]
rs2282597	0.85[ASN][1000 genomes]
rs2282598	0.85[ASN][1000 genomes]
rs2589506	0.89[ASN][1000 genomes]
rs2589515	0.89[ASN][1000 genomes]
rs2589516	0.89[ASN][1000 genomes]
rs28485608	0.95[ASN][1000 genomes]
rs28865277	0.85[ASN][1000 genomes]
rs34998174	0.96[ASN][1000 genomes]
rs35823399	0.92[ASN][1000 genomes]
rs3775167	0.85[ASN][1000 genomes]
rs3775170	0.85[ASN][1000 genomes]
rs3775181	0.82[EUR][1000 genomes]
rs3775183	0.82[EUR][1000 genomes]
rs3775184	0.91[ASN][1000 genomes]
rs3775187	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4364253	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4482754	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4487330	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4501213	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6531896	0.89[EUR][1000 genomes]
rs6810413	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6822410	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6840318	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9307015	0.89[ASN][1000 genomes]
rs958	0.85[ASN][1000 genomes]
rs9884282	0.95[ASN][1000 genomes]
rs9884770	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9995879	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009622	chr4:86893536-87119153	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003585	chr4:86957967-87250436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv594761	chr4:86976413-87018488	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2754254	chr4:86979147-87108510	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879521	chr4:86979927-87165758	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:87004000-87028400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:87004200-87006400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:87005000-87007600	Weak transcription	Small Intestine	intestine
4	chr4:87005000-87011000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:87005000-87050400	Weak transcription	Brain Angular Gyrus	brain
6	chr4:87005200-87007200	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:87005400-87006200	Weak transcription	Fetal Lung	lung
8	chr4:87005400-87010200	Weak transcription	Brain Germinal Matrix	brain
9	chr4:87005400-87010400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:87005400-87011000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:87005400-87011000	Weak transcription	Pancreas	Pancrea
12	chr4:87005400-87011200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:87005400-87028200	Weak transcription	Ovary	ovary
14	chr4:87005400-87028400	Weak transcription	Fetal Stomach	stomach
15	chr4:87005600-87007000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:87005600-87010800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:87005600-87023000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:87005600-87026200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:87005600-87031200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:87005600-87035200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:87005800-87006600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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