Variant report

Variant	rs7251805
Chromosome Location	chr19:37123004-37123005
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1035777	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10402182	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10403456	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407919	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11084861	0.93[ASN][1000 genomes]
rs11666769	0.84[ASN][1000 genomes]
rs11667894	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11668432	0.87[ASN][1000 genomes]
rs11668689	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669816	0.92[ASN][1000 genomes]
rs11670914	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11671382	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11672098	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12608459	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12608512	0.88[ASN][1000 genomes]
rs12610555	0.86[ASN][1000 genomes]
rs12610572	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1357879	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1464830	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464831	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1525133	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1673082	0.83[ASN][1000 genomes]
rs17272386	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985980	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2052728	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162296	0.94[ASN][1000 genomes]
rs2194976	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2912399	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2912400	0.88[ASN][1000 genomes]
rs2912404	0.84[ASN][1000 genomes]
rs2912408	0.90[ASN][1000 genomes]
rs2912412	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2912440	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2912442	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2912443	0.93[ASN][1000 genomes]
rs2912444	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2912446	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2945964	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945978	0.80[ASN][1000 genomes]
rs2967427	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967429	0.94[ASN][1000 genomes]
rs2967436	0.87[ASN][1000 genomes]
rs2967437	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967438	0.90[ASN][1000 genomes]
rs2967439	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967440	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967442	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967459	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967461	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967463	0.89[ASN][1000 genomes]
rs2967464	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3096620	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096637	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108593	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108605	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35299345	0.87[ASN][1000 genomes]
rs4806338	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4806339	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4806348	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4806349	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55940011	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55965207	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60213885	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60297398	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61457535	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61628442	0.84[ASN][1000 genomes]
rs6510551	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66717711	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66783290	0.92[ASN][1000 genomes]
rs67258954	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67995015	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68012004	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246216	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73609113	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7507224	0.93[ASN][1000 genomes]
rs8100381	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8108985	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826987	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7251805	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37098000-37156000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37102200-37135200	ZNF genes & repeats	Fetal Brain Female	brain
3	chr19:37104400-37125600	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr19:37106800-37151000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:37106800-37156200	ZNF genes & repeats	Liver	Liver
6	chr19:37107000-37125400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:37107000-37134800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:37107000-37152400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:37107800-37134600	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr19:37110400-37152600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:37115400-37131800	ZNF genes & repeats	Left Ventricle	heart
12	chr19:37117200-37124000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:37117400-37124000	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr19:37117800-37128400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:37121400-37127600	ZNF genes & repeats	Brain Angular Gyrus	brain
16	chr19:37121400-37134600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr19:37121600-37125400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
18	chr19:37121600-37135200	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr19:37121800-37123800	ZNF genes & repeats	Ovary	ovary
20	chr19:37121800-37124200	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr19:37121800-37125400	ZNF genes & repeats	Right Ventricle	heart
22	chr19:37122000-37123800	ZNF genes & repeats	Fetal Kidney	kidney
23	chr19:37122000-37124000	ZNF genes & repeats	Fetal Heart	heart
24	chr19:37122000-37126200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
25	chr19:37122000-37127800	ZNF genes & repeats	Fetal Brain Male	brain
26	chr19:37122600-37139800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr19:37122800-37123800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
28	chr19:37122800-37124200	ZNF genes & repeats	Aorta	Aorta
29	chr19:37122800-37124800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:37122800-37134800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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