Variant report

Variant	rs3111553
Chromosome Location	chr19:36946529-36946530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36944101..36946636-chr19:36951837..36953729,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11665865	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11670917	0.84[AMR][1000 genomes]
rs11672024	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11673325	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12971760	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12985198	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17206393	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2385797	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2912415	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2912423	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2912435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2912439	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2912441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2945953	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2945976	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967443	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967444	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967445	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967446	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967453	0.92[AMR][1000 genomes]
rs2967528	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2967530	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2967531	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2967534	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2967535	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2967537	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967539	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967540	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3107235	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3107236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34550124	0.84[AMR][1000 genomes]
rs34664029	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34830781	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35408779	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62113910	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62113945	0.85[AMR][1000 genomes]
rs8104181	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][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	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1066026	chr19:36878441-36947928	ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1067101	chr19:36901010-36956251	ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	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
5	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3111553	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36931800-36946800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:36934200-36950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:36934400-36946600	ZNF genes & repeats	Liver	Liver
4	chr19:36936000-36950000	ZNF genes & repeats	Fetal Brain Female	brain
5	chr19:36936200-36949600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:36936400-36946600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:36938000-36946600	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr19:36938200-36947200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr19:36938200-36952200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:36938400-36946600	ZNF genes & repeats	Fetal Lung	lung
12	chr19:36938400-36951200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:36938600-36946600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr19:36939200-36948600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr19:36939200-36949000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:36939800-36948200	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr19:36940000-36946600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:36940000-36946600	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr19:36940000-36948000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
20	chr19:36940800-36959400	Weak transcription	Brain Angular Gyrus	brain
21	chr19:36941000-36959400	Weak transcription	Placenta	Placenta
22	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
23	chr19:36941200-36947800	Weak transcription	Brain Anterior Caudate	brain
24	chr19:36942400-36962400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:36942600-36947400	ZNF genes & repeats	Fetal Stomach	stomach
26	chr19:36942600-36951800	Weak transcription	HSMM	muscle
27	chr19:36942600-36957200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:36942600-36963000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:36942600-36966200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:36942800-36962200	Weak transcription	Right Ventricle	heart
31	chr19:36943000-36954600	Weak transcription	Fetal Muscle Leg	muscle
32	chr19:36943200-36951000	Weak transcription	Osteobl	bone
33	chr19:36943600-36947400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:36943600-36959200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:36944200-36947800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:36944400-36961200	Weak transcription	Left Ventricle	heart
37	chr19:36944600-36946600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:36944600-36946600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr19:36944600-36947000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
40	chr19:36944600-36947200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:36944800-36946600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:36944800-36946600	ZNF genes & repeats	A549	lung
43	chr19:36944800-36969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr19:36945000-36947200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr19:36945000-36948400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:36945200-36946600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:36945400-36946600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr19:36945400-36947600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr19:36945400-36955000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:36945400-36959400	Weak transcription	Aorta	Aorta

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