Variant report

Variant	rs3111542
Chromosome Location	chr19:37054120-37054121
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	chr19:37053248..37055445-chr19:37061969..37063522,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10402486	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11084862	0.82[EUR][1000 genomes]
rs2033077	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385642	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2385643	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967453	0.86[ASN][1000 genomes]
rs3096617	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3096618	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096619	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096622	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096623	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096627	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096628	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096629	0.96[ASN][1000 genomes]
rs3096630	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096631	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096632	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096633	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3096636	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108166	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108167	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108168	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108171	0.87[EUR][1000 genomes]
rs3108172	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108174	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108181	0.82[EUR][1000 genomes]
rs3108182	0.82[EUR][1000 genomes]
rs3108184	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108185	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108186	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108187	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108188	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108189	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108190	0.82[EUR][1000 genomes]
rs3108191	0.82[EUR][1000 genomes]
rs3108193	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108196	0.85[ASN][1000 genomes]
rs3108203	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108205	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108208	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108209	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108542	0.85[EUR][1000 genomes]
rs3108543	0.85[EUR][1000 genomes]
rs3108544	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108545	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108546	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108549	0.85[ASN][1000 genomes]
rs3108550	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108552	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108555	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108559	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108560	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108562	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108563	0.82[EUR][1000 genomes]
rs3108564	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108567	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108580	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108594	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108596	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108597	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108598	0.99[ASN][1000 genomes]
rs3108600	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108602	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108603	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108604	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3108607	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108608	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108609	0.86[EUR][1000 genomes]
rs3108610	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3111541	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3111547	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3111549	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3111550	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34002069	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34395293	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4572520	0.84[EUR][1000 genomes]
rs4806336	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62113945	0.86[ASN][1000 genomes]
rs7245414	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7248477	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7259195	0.84[EUR][1000 genomes]
rs7259256	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1056134	chr19:37022039-37056943	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
8	esv3334779	chr19:37050161-37076919	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3111542	ZNF567	Cis_1M	lymphoblastoid	RTeQTL
rs3111542	AC092295.7	cis	Esophagus Muscularis	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37021400-37061600	ZNF genes & repeats	Liver	Liver
2	chr19:37022800-37061200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37023000-37061800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37023200-37060200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr19:37023200-37061600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37023400-37060000	ZNF genes & repeats	Fetal Lung	lung
7	chr19:37023400-37062000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:37023400-37063000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:37023600-37061000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr19:37023800-37057800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:37023800-37058200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:37023800-37058200	ZNF genes & repeats	Dnd41	blood
13	chr19:37023800-37061600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:37025600-37061000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr19:37025600-37062800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:37025800-37060200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr19:37027400-37054400	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr19:37028600-37055000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr19:37028600-37061800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr19:37028800-37054400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr19:37029000-37060000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr19:37031400-37056800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr19:37031400-37057800	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr19:37034000-37063000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:37034200-37059600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
26	chr19:37034800-37057200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr19:37036200-37059400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:37045600-37054400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
29	chr19:37047000-37058800	Weak transcription	K562	blood
30	chr19:37048400-37062800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:37049800-37058000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
32	chr19:37049800-37061800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr19:37050000-37054200	ZNF genes & repeats	Ovary	ovary
34	chr19:37050000-37054400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:37050000-37055800	ZNF genes & repeats	Fetal Muscle Leg	muscle
36	chr19:37050000-37056000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:37050200-37054200	ZNF genes & repeats	Colonic Mucosa	Colon
38	chr19:37050200-37054200	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr19:37050200-37054400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:37050200-37054400	ZNF genes & repeats	Pancreas	Pancrea
41	chr19:37050200-37055600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:37050200-37058200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr19:37050400-37058000	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr19:37050400-37062600	Weak transcription	Fetal Heart	heart
45	chr19:37050600-37054400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chr19:37050800-37054400	ZNF genes & repeats	Placenta	Placenta
47	chr19:37050800-37056200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:37051400-37060800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:37051600-37057200	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr19:37051800-37054200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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