Variant report

Variant	rs3108611
Chromosome Location	chr19:37134884-37134885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10411411	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1053064	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12162275	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12973307	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12981751	0.95[AFR][1000 genomes]
rs2385640	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2462576	0.86[ASN][1000 genomes]
rs2912401	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2912402	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2912406	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2912416	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2912417	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967424	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967455	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967470	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3096621	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3096626	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3108169	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108170	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108175	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108180	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108198	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108199	0.88[EUR][1000 genomes]
rs3108200	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108207	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108213	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108220	0.83[ASN][1000 genomes]
rs3108547	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3108548	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108551	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3108553	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3108554	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3108558	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108561	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108571	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108578	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108581	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108582	0.87[ASN][1000 genomes]
rs3108587	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108588	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3108595	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3108599	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108601	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3111543	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3111545	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3111546	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71337534	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7254978	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8112546	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826979	0.82[ASN][1000 genomes]
rs826980	0.83[ASN][1000 genomes]
rs826986	0.87[ASN][1000 genomes]
rs865448	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3108611	ZNF529	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

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	chr19:37106800-37151000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:37106800-37156200	ZNF genes & repeats	Liver	Liver
5	chr19:37107000-37152400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37110400-37152600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:37121600-37135200	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr19:37122600-37139800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
9	chr19:37124800-37155600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:37126200-37156200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:37126400-37136200	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr19:37127000-37140000	ZNF genes & repeats	Ovary	ovary
13	chr19:37127200-37141000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:37127200-37151000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:37127400-37135400	ZNF genes & repeats	Dnd41	blood
16	chr19:37128200-37150600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:37128600-37149600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr19:37128800-37135200	ZNF genes & repeats	Fetal Lung	lung
19	chr19:37128800-37156200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:37129600-37140400	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr19:37131000-37137200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:37132000-37141000	ZNF genes & repeats	Fetal Stomach	stomach
23	chr19:37132200-37142200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:37132600-37140200	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr19:37132800-37135000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr19:37132800-37137400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:37132800-37139400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
28	chr19:37132800-37139800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:37132800-37141000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr19:37132800-37142200	ZNF genes & repeats	Placenta	Placenta
31	chr19:37133000-37140200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:37133400-37136000	Weak transcription	Fetal Heart	heart
33	chr19:37133400-37140000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:37133600-37137200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:37134000-37135200	Weak transcription	Left Ventricle	heart
36	chr19:37134000-37135600	Weak transcription	Pancreas	Pancrea
37	chr19:37134400-37136000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:37134400-37136000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:37134400-37136000	Weak transcription	Osteobl	bone
40	chr19:37134400-37143400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:37134600-37135200	Weak transcription	Brain Anterior Caudate	brain
42	chr19:37134600-37135400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:37134600-37135400	Weak transcription	HSMM	muscle
44	chr19:37134600-37135600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:37134600-37135600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:37134600-37135800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:37134600-37136000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:37134600-37136000	Weak transcription	Fetal Brain Male	brain
49	chr19:37134600-37136000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:37134600-37136000	Weak transcription	Right Ventricle	heart

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