Variant report

Variant	rs10407386
Chromosome Location	chr19:37218449-37218450
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10402486	0.85[EUR][1000 genomes]
rs10409630	0.89[EUR][1000 genomes]
rs11084862	0.95[EUR][1000 genomes]
rs11669642	0.81[ASN][1000 genomes]
rs11672680	0.81[ASN][1000 genomes]
rs12610353	0.97[EUR][1000 genomes]
rs1830031	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2033077	0.84[EUR][1000 genomes]
rs2217081	0.82[EUR][1000 genomes]
rs2385564	0.82[ASN][1000 genomes]
rs2385642	0.84[EUR][1000 genomes]
rs2385643	0.84[EUR][1000 genomes]
rs3096617	0.83[EUR][1000 genomes]
rs3096618	0.83[EUR][1000 genomes]
rs3096619	0.83[EUR][1000 genomes]
rs3096622	0.84[EUR][1000 genomes]
rs3096623	0.84[EUR][1000 genomes]
rs3096627	0.84[EUR][1000 genomes]
rs3096628	0.84[EUR][1000 genomes]
rs3096630	0.84[EUR][1000 genomes]
rs3096631	0.83[EUR][1000 genomes]
rs3096632	0.84[EUR][1000 genomes]
rs3096633	0.83[EUR][1000 genomes]
rs3096636	0.85[EUR][1000 genomes]
rs3108166	0.89[EUR][1000 genomes]
rs3108167	0.86[EUR][1000 genomes]
rs3108168	0.86[EUR][1000 genomes]
rs3108171	0.85[EUR][1000 genomes]
rs3108172	0.85[EUR][1000 genomes]
rs3108174	0.86[EUR][1000 genomes]
rs3108179	0.97[EUR][1000 genomes]
rs3108181	0.95[EUR][1000 genomes]
rs3108182	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108184	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108185	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108186	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108187	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108188	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108189	0.94[EUR][1000 genomes]
rs3108190	0.95[EUR][1000 genomes]
rs3108191	0.95[EUR][1000 genomes]
rs3108193	0.89[EUR][1000 genomes]
rs3108197	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108201	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108203	0.89[EUR][1000 genomes]
rs3108205	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108206	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3108208	0.87[EUR][1000 genomes]
rs3108209	0.88[EUR][1000 genomes]
rs3108214	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108215	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3108218	0.81[ASN][1000 genomes]
rs3108219	0.81[ASN][1000 genomes]
rs3108542	0.88[EUR][1000 genomes]
rs3108543	0.88[EUR][1000 genomes]
rs3108544	0.88[EUR][1000 genomes]
rs3108545	0.89[EUR][1000 genomes]
rs3108546	0.88[EUR][1000 genomes]
rs3108550	0.89[EUR][1000 genomes]
rs3108552	0.89[EUR][1000 genomes]
rs3108555	0.95[EUR][1000 genomes]
rs3108559	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108560	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108562	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108563	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108564	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3108565	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108566	0.98[EUR][1000 genomes]
rs3108567	0.83[EUR][1000 genomes]
rs3108568	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108570	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108572	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108573	0.81[ASN][1000 genomes]
rs3108574	0.98[EUR][1000 genomes]
rs3108575	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108576	0.98[EUR][1000 genomes]
rs3108577	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108579	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108580	0.83[EUR][1000 genomes]
rs3108583	0.81[ASN][1000 genomes]
rs3108585	0.81[ASN][1000 genomes]
rs3108589	0.81[ASN][1000 genomes]
rs3108590	0.81[ASN][1000 genomes]
rs3108591	0.84[ASN][1000 genomes]
rs3108594	0.84[EUR][1000 genomes]
rs3108596	0.84[EUR][1000 genomes]
rs3108597	0.83[EUR][1000 genomes]
rs3108600	0.83[EUR][1000 genomes]
rs3108602	0.83[EUR][1000 genomes]
rs3108603	0.84[EUR][1000 genomes]
rs3108604	0.84[EUR][1000 genomes]
rs3108607	0.86[EUR][1000 genomes]
rs3108608	0.86[EUR][1000 genomes]
rs3108609	0.86[EUR][1000 genomes]
rs3108610	0.86[EUR][1000 genomes]
rs3111541	0.83[EUR][1000 genomes]
rs3111547	0.84[EUR][1000 genomes]
rs3111549	0.83[EUR][1000 genomes]
rs3111550	0.84[EUR][1000 genomes]
rs34002069	0.89[EUR][1000 genomes]
rs34395293	0.83[EUR][1000 genomes]
rs4507019	0.85[EUR][1000 genomes]
rs4572520	0.84[EUR][1000 genomes]
rs4806336	0.84[EUR][1000 genomes]
rs7245414	0.85[EUR][1000 genomes]
rs7248477	0.89[EUR][1000 genomes]
rs7250376	0.81[ASN][1000 genomes]
rs7252957	0.95[EUR][1000 genomes]
rs7256786	0.90[EUR][1000 genomes]
rs7259195	0.86[EUR][1000 genomes]
rs7259256	0.91[EUR][1000 genomes]
rs8105197	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
6	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
7	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
8	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
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
11	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv911649	chr19:37203249-37257192	ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
15	esv3508979	chr19:37208161-37252433	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
16	esv3508980	chr19:37208161-37252433	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10407386	ZNF567	Cis_1M	lymphoblastoid	RTeQTL
rs10407386	AC092295.7	cis	Esophagus Muscularis	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37194400-37219400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:37194400-37221400	ZNF genes & repeats	Dnd41	blood
4	chr19:37194400-37253800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:37194600-37220800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr19:37194600-37227000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
8	chr19:37197000-37226400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:37212800-37219000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:37212800-37219000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:37212800-37219000	ZNF genes & repeats	Left Ventricle	heart
12	chr19:37214600-37219200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:37215000-37219000	Weak transcription	Fetal Heart	heart
14	chr19:37215800-37219200	ZNF genes & repeats	Fetal Brain Female	brain
15	chr19:37216200-37219000	ZNF genes & repeats	Right Ventricle	heart
16	chr19:37216200-37219200	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr19:37216200-37220800	ZNF genes & repeats	Brain Anterior Caudate	brain
18	chr19:37216200-37221000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:37216200-37222000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr19:37216200-37226600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr19:37216200-37228600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
22	chr19:37216400-37219000	ZNF genes & repeats	Aorta	Aorta
23	chr19:37216400-37219000	ZNF genes & repeats	Placenta	Placenta
24	chr19:37216400-37219400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:37216400-37221000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:37216400-37221400	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr19:37216600-37219400	ZNF genes & repeats	Colon Smooth Muscle	Colon
28	chr19:37216600-37219600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr19:37216800-37225200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr19:37216800-37232400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:37217000-37219200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr19:37217000-37219400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr19:37217000-37219400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
34	chr19:37217000-37220800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr19:37217000-37220800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr19:37217200-37219000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr19:37217200-37219000	ZNF genes & repeats	Ovary	ovary
38	chr19:37217200-37219000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr19:37217200-37219200	ZNF genes & repeats	Colonic Mucosa	Colon
40	chr19:37217200-37219400	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr19:37217200-37220800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr19:37217200-37221400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr19:37217200-37221400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
44	chr19:37217200-37221400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:37217200-37229000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:37217400-37218800	ZNF genes & repeats	Thymus	Thymus
47	chr19:37217400-37219000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:37217400-37219000	ZNF genes & repeats	Esophagus	oesophagus
49	chr19:37217400-37219000	ZNF genes & repeats	Fetal Stomach	stomach
50	chr19:37217400-37219200	ZNF genes & repeats	Primary B cells from cord blood	blood

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