Variant report

Variant	rs3096623
Chromosome Location	chr19:37078516-37078517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10402486	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10407386	0.84[EUR][1000 genomes]
rs11084862	0.89[EUR][1000 genomes]
rs11669642	0.80[ASN][1000 genomes]
rs11672680	0.80[ASN][1000 genomes]
rs12610353	0.86[EUR][1000 genomes]
rs1830031	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2033077	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217081	0.90[EUR][1000 genomes]
rs2385642	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385643	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967453	0.84[ASN][1000 genomes]
rs3096617	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3096618	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096619	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096622	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096627	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096628	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096629	0.99[ASN][1000 genomes]
rs3096630	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096631	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096632	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096633	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3096635	0.85[EUR][1000 genomes]
rs3096636	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108166	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108167	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108168	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108171	0.99[EUR][1000 genomes]
rs3108172	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108174	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108179	0.86[EUR][1000 genomes]
rs3108181	0.89[EUR][1000 genomes]
rs3108182	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3108184	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108185	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108186	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108187	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108188	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108189	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108190	0.89[EUR][1000 genomes]
rs3108191	0.89[EUR][1000 genomes]
rs3108192	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3108193	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108196	0.87[ASN][1000 genomes]
rs3108197	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108201	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108203	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108205	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108206	0.83[AMR][1000 genomes]
rs3108208	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108209	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108214	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108215	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3108218	0.80[ASN][1000 genomes]
rs3108219	0.80[ASN][1000 genomes]
rs3108542	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3108543	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3108544	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108545	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108546	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108549	0.87[ASN][1000 genomes]
rs3108550	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108552	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108555	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108559	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108560	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108562	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108563	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108564	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108565	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108566	0.86[EUR][1000 genomes]
rs3108567	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108568	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108570	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108572	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108573	0.80[ASN][1000 genomes]
rs3108574	0.86[EUR][1000 genomes]
rs3108575	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108576	0.86[EUR][1000 genomes]
rs3108577	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108579	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108580	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108583	0.80[ASN][1000 genomes]
rs3108585	0.80[ASN][1000 genomes]
rs3108589	0.80[ASN][1000 genomes]
rs3108590	0.80[ASN][1000 genomes]
rs3108594	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108596	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108597	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108598	0.96[ASN][1000 genomes]
rs3108600	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108602	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108603	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108604	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3108607	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108608	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108609	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3108610	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3111541	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3111542	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3111547	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3111549	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3111550	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34002069	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34395293	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572520	0.96[EUR][1000 genomes]
rs4806336	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113945	0.84[ASN][1000 genomes]
rs7245414	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7248477	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7250376	0.80[ASN][1000 genomes]
rs7252957	0.83[EUR][1000 genomes]
rs7259195	0.96[EUR][1000 genomes]
rs7259256	0.86[EUR][1000 genomes]
rs8105197	0.84[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3096623	AC092295.7	cis	Esophagus Muscularis	GTEx
rs3096623	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37065600-37081200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37065600-37095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:37066000-37081200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:37066000-37081200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:37066600-37080600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:37066800-37081000	Strong transcription	Dnd41	blood
7	chr19:37066800-37091400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:37067000-37080800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:37067000-37081200	ZNF genes & repeats	Liver	Liver
10	chr19:37067000-37081200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr19:37068800-37083000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:37070000-37095400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:37071400-37079000	Weak transcription	NH-A	brain
14	chr19:37072000-37081800	Weak transcription	HUVEC	blood vessel
15	chr19:37072200-37079400	Weak transcription	NHDF-Ad	bronchial
16	chr19:37072400-37079200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:37072600-37079000	Weak transcription	Brain Substantia Nigra	brain
18	chr19:37072600-37079400	Weak transcription	Fetal Brain Male	brain
19	chr19:37072600-37080600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:37072600-37080600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:37072600-37081200	Weak transcription	NHLF	lung
22	chr19:37072600-37082000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:37072800-37079800	Weak transcription	Pancreas	Pancrea
24	chr19:37072800-37080800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:37073000-37081800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:37073200-37079800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:37074000-37080600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:37074400-37080000	Weak transcription	HSMMtube	muscle
29	chr19:37075000-37080600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:37075200-37081400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:37075400-37080000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:37075400-37080400	ZNF genes & repeats	Aorta	Aorta
33	chr19:37075400-37080400	Strong transcription	Fetal Muscle Leg	muscle
34	chr19:37075400-37080600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:37075400-37080600	ZNF genes & repeats	Ovary	ovary
36	chr19:37075400-37081200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr19:37075400-37081200	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr19:37075600-37079200	Strong transcription	Primary T cells from cord blood	blood
39	chr19:37075600-37081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:37075600-37081400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
41	chr19:37075800-37078600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr19:37075800-37079200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:37075800-37080800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr19:37075800-37081000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr19:37075800-37081200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:37076000-37080200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr19:37076000-37080400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr19:37076000-37080600	Strong transcription	Brain Anterior Caudate	brain
49	chr19:37076000-37080600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr19:37076000-37080800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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