Variant report

Variant	rs2912417
Chromosome Location	chr19:37084120-37084121
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	chr19:37079897..37081870-chr19:37083673..37086387,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10411411	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1053064	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12162275	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12973307	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385640	0.81[ASN][1000 genomes]
rs2912401	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2912402	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2912406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2912416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967424	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967455	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967470	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3096621	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3096626	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108169	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3108170	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108175	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108180	0.88[EUR][1000 genomes]
rs3108198	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108199	0.84[EUR][1000 genomes]
rs3108200	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108207	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108213	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108547	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108548	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108551	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108553	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108554	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108558	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3108561	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3108571	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108578	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108581	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108582	0.81[ASN][1000 genomes]
rs3108587	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108588	0.81[ASN][1000 genomes]
rs3108595	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108599	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3108601	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3108611	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3111543	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3111545	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3111546	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71337534	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7254978	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8112546	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826986	0.81[ASN][1000 genomes]
rs865448	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3434386	chr19:37073454-37114509	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2912417	ZNF529	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37065600-37095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:37066800-37091400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:37070000-37095400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:37077000-37085000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:37079800-37095200	Weak transcription	NH-A	brain
6	chr19:37080200-37084600	Weak transcription	Brain Substantia Nigra	brain
7	chr19:37080200-37095200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:37080400-37095000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:37080400-37095000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:37080400-37095000	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:37080600-37084800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr19:37080600-37085200	Weak transcription	Brain Angular Gyrus	brain
13	chr19:37080600-37085200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:37080600-37085600	Weak transcription	Brain Anterior Caudate	brain
15	chr19:37080600-37094600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:37080600-37095200	Weak transcription	Right Ventricle	heart
17	chr19:37080600-37095200	Weak transcription	HSMMtube	muscle
18	chr19:37080800-37084600	Weak transcription	Fetal Heart	heart
19	chr19:37080800-37088800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:37080800-37093800	Weak transcription	Fetal Brain Male	brain
21	chr19:37080800-37095000	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:37080800-37095200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:37080800-37095200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:37080800-37095200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:37081000-37084600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:37081000-37093800	Weak transcription	Dnd41	blood
27	chr19:37081200-37084800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:37081200-37085200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:37081200-37085200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr19:37081200-37085800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:37081200-37095000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:37081200-37095200	Weak transcription	Left Ventricle	heart
33	chr19:37081400-37084200	Weak transcription	Primary B cells from cord blood	blood
34	chr19:37082200-37095200	Weak transcription	Fetal Lung	lung
35	chr19:37082800-37085600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr19:37083800-37094400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:37084000-37085600	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr19:37084000-37085600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:37084000-37086800	ZNF genes & repeats	Fetal Brain Female	brain

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