Variant report

Variant	rs1464830
Chromosome Location	chr19:37132880-37132881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1035777	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10402182	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10403456	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10407919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11084861	0.95[ASN][1000 genomes]
rs11666769	0.86[ASN][1000 genomes]
rs11667894	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11668432	0.89[ASN][1000 genomes]
rs11668689	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11669816	0.94[ASN][1000 genomes]
rs11670914	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11671382	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11672098	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12608459	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12608512	0.90[ASN][1000 genomes]
rs12610555	0.88[ASN][1000 genomes]
rs12610572	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1357879	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1464831	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525133	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1673082	0.85[ASN][1000 genomes]
rs17272386	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1985980	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2052728	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2162296	0.92[ASN][1000 genomes]
rs2194976	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2912399	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2912400	0.86[ASN][1000 genomes]
rs2912404	0.82[ASN][1000 genomes]
rs2912408	0.88[ASN][1000 genomes]
rs2912412	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2912440	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2912442	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2912443	0.91[ASN][1000 genomes]
rs2912444	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2912446	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2945964	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967427	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967429	0.92[ASN][1000 genomes]
rs2967436	0.85[ASN][1000 genomes]
rs2967437	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967438	0.88[ASN][1000 genomes]
rs2967439	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967440	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967442	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967459	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967461	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2967463	0.87[ASN][1000 genomes]
rs2967464	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3096620	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3096637	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108593	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3108605	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35299345	0.89[ASN][1000 genomes]
rs4806338	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806339	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4806348	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4806349	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55940011	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55965207	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60213885	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60297398	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61457535	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61628442	0.86[ASN][1000 genomes]
rs6510551	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66717711	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66783290	0.94[ASN][1000 genomes]
rs67258954	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67995015	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68012004	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7246216	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7251805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73609113	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7507224	0.95[ASN][1000 genomes]
rs8100381	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8108985	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826987	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1464830	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 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	chr19:37107000-37134800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:37107000-37152400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:37107800-37134600	ZNF genes & repeats	Brain Anterior Caudate	brain
8	chr19:37110400-37152600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:37121400-37134600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr19:37121600-37135200	ZNF genes & repeats	Brain Hippocampus Middle	brain
11	chr19:37122600-37139800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr19:37122800-37134800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr19:37124600-37134600	ZNF genes & repeats	Brain Substantia Nigra	brain
14	chr19:37124800-37155600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr19:37125000-37134600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr19:37125000-37134600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr19:37126000-37134600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:37126200-37134600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
19	chr19:37126200-37156200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:37126400-37136200	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr19:37127000-37134400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:37127000-37140000	ZNF genes & repeats	Ovary	ovary
23	chr19:37127200-37134600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
24	chr19:37127200-37134600	ZNF genes & repeats	A549	lung
25	chr19:37127200-37134800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:37127200-37141000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:37127200-37151000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:37127400-37135400	ZNF genes & repeats	Dnd41	blood
29	chr19:37128000-37134600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
30	chr19:37128200-37150600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:37128400-37134800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr19:37128600-37134800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr19:37128600-37149600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr19:37128800-37135200	ZNF genes & repeats	Fetal Lung	lung
35	chr19:37128800-37156200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:37129000-37134200	ZNF genes & repeats	Aorta	Aorta
37	chr19:37129000-37134600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:37129000-37134800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:37129200-37134800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr19:37129600-37133400	ZNF genes & repeats	Psoas Muscle	Psoas
41	chr19:37129600-37134400	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr19:37129600-37134600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:37129600-37134600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
44	chr19:37129600-37134600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr19:37129600-37134800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr19:37129600-37140400	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr19:37130000-37134400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:37131000-37137200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:37131600-37133000	Weak transcription	HSMM	muscle
50	chr19:37132000-37141000	ZNF genes & repeats	Fetal Stomach	stomach

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