Variant report

Variant	rs11668689
Chromosome Location	chr19:37119944-37119945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37019171..37020688-chr19:37117854..37120209,2	K562	blood:

Variant related genes	Relation type
ENSG00000228629	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1035777	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10402182	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10403456	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407919	0.95[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	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11668432	0.87[ASN][1000 genomes]
rs11669816	0.92[ASN][1000 genomes]
rs11670914	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11671382	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11672098	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12608459	1.00[AFR][1000 genomes];1.00[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	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1357879	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1464830	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464831	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1525133	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1673082	0.83[ASN][1000 genomes]
rs17272386	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985980	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2052728	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162296	0.94[ASN][1000 genomes]
rs2194976	0.90[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	0.90[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	0.84[AFR][1000 genomes];0.92[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	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967438	0.90[ASN][1000 genomes]
rs2967439	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967440	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967442	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967459	0.97[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	0.90[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	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35299345	0.87[ASN][1000 genomes]
rs4806338	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4806339	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4806348	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4806349	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55940011	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55965207	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60213885	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60297398	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61457535	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61628442	0.84[ASN][1000 genomes]
rs6510551	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66717711	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66783290	0.92[ASN][1000 genomes]
rs67258954	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67995015	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68012004	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246216	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7251805	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73609113	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7507224	0.93[ASN][1000 genomes]
rs8100381	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8108985	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826987	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11668689	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 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	chr19:37098200-37120400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:37102200-37135200	ZNF genes & repeats	Fetal Brain Female	brain
4	chr19:37104400-37125600	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr19:37106800-37151000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:37106800-37156200	ZNF genes & repeats	Liver	Liver
7	chr19:37107000-37120400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr19:37107000-37120400	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:37107000-37125400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:37107000-37134800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:37107000-37152400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:37107800-37134600	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr19:37109200-37120400	ZNF genes & repeats	Dnd41	blood
14	chr19:37110400-37152600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:37112400-37120800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
16	chr19:37112400-37122200	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr19:37115400-37131800	ZNF genes & repeats	Left Ventricle	heart
18	chr19:37116200-37120200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:37116800-37120400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:37116800-37120400	ZNF genes & repeats	Brain Angular Gyrus	brain
21	chr19:37117000-37120000	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr19:37117200-37124000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:37117400-37120400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr19:37117400-37124000	ZNF genes & repeats	Colon Smooth Muscle	Colon
25	chr19:37117800-37128400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:37119800-37120800	ZNF genes & repeats	Fetal Stomach	stomach
27	chr19:37119800-37122000	Weak transcription	Fetal Heart	heart
28	chr19:37119800-37122000	Weak transcription	Fetal Kidney	kidney

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