Variant report

Variant	rs12981277
Chromosome Location	chr19:21787387-21787388
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10854054	0.96[ASN][1000 genomes]
rs11085469	0.91[ASN][1000 genomes]
rs11667151	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11673280	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11879044	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11881160	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11881176	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11881813	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12150968	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12459011	0.92[ASN][1000 genomes]
rs12459715	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463354	0.88[ASN][1000 genomes]
rs12463384	0.92[ASN][1000 genomes]
rs12608625	0.86[ASN][1000 genomes]
rs12610221	0.85[ASN][1000 genomes]
rs12972148	0.93[ASN][1000 genomes]
rs12973203	0.91[ASN][1000 genomes]
rs12973209	0.98[ASN][1000 genomes]
rs12974817	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12979255	0.91[ASN][1000 genomes]
rs1520068	0.91[ASN][1000 genomes]
rs1520069	0.91[ASN][1000 genomes]
rs1520070	0.91[ASN][1000 genomes]
rs1533674	0.89[ASN][1000 genomes]
rs1850937	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2102920	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2102922	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2139530	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2359157	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34015922	0.89[ASN][1000 genomes]
rs34692125	0.91[ASN][1000 genomes]
rs34835488	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35092215	0.95[ASN][1000 genomes]
rs35229762	0.91[ASN][1000 genomes]
rs35465051	0.89[ASN][1000 genomes]
rs35998933	0.85[ASN][1000 genomes]
rs3817397	0.89[ASN][1000 genomes]
rs4435389	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4809146	0.87[ASN][1000 genomes]
rs4809147	0.86[ASN][1000 genomes]
rs4809148	0.87[ASN][1000 genomes]
rs4809151	0.91[ASN][1000 genomes]
rs4809152	0.91[ASN][1000 genomes]
rs4809153	0.87[ASN][1000 genomes]
rs4809154	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55778393	0.87[ASN][1000 genomes]
rs57229007	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57235280	0.87[ASN][1000 genomes]
rs59054166	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59803919	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61137407	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61461318	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62108370	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62108372	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62110244	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62110249	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511273	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511275	0.89[ASN][1000 genomes]
rs67854708	0.91[ASN][1000 genomes]
rs71333832	0.92[ASN][1000 genomes]
rs7246154	0.98[ASN][1000 genomes]
rs7248367	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7249639	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249775	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7250457	0.91[ASN][1000 genomes]
rs7250470	0.91[ASN][1000 genomes]
rs7250663	0.91[ASN][1000 genomes]
rs7250960	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7251076	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7251111	0.91[ASN][1000 genomes]
rs7252080	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7252081	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7252104	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7252205	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7252706	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7254018	0.91[ASN][1000 genomes]
rs7254378	0.91[ASN][1000 genomes]
rs7255081	0.91[ASN][1000 genomes]
rs7255395	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7255521	0.92[ASN][1000 genomes]
rs7256982	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7257246	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7259763	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7259888	0.92[ASN][1000 genomes]
rs7260016	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7260175	0.85[ASN][1000 genomes]
rs7260391	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7260514	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8100536	0.90[ASN][1000 genomes]
rs8101255	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8101857	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8109757	0.87[ASN][1000 genomes]
rs8110320	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111076	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111313	0.89[ASN][1000 genomes]
rs8112158	0.98[ASN][1000 genomes]
rs8112960	0.89[ASN][1000 genomes]
rs9749033	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9749043	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9749067	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9749163	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9749167	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv911423	chr19:21783995-21858994	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs12981277	RP11-420K14.2	cis	Whole Blood	GTEx
rs12981277	ZNF429	cis	lung	GTEx
rs12981277	ZNF429	cis	Whole Blood	GTEx
rs12981277	CTD-2561J22.5	cis	Esophagus Mucosa	GTEx
rs12981277	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs12981277	RP11-678G14.3	cis	lung	GTEx
rs12981277	CTD-2561J22.5	cis	Artery Tibial	GTEx
rs12981277	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs12981277	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs12981277	RP11-678G14.3	cis	Esophagus Mucosa	GTEx
rs12981277	ZNF429	cis	Esophagus Mucosa	GTEx
rs12981277	RP11-678G14.3	cis	Whole Blood	GTEx
rs12981277	RP11-420K14.2	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21784800-21788400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:21785400-21788200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:21786000-21788000	Flanking Active TSS	K562	blood
4	chr19:21786000-21788200	Flanking Active TSS	Dnd41	blood
5	chr19:21786200-21787800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21786200-21787800	Enhancers	Spleen	Spleen
7	chr19:21786200-21788000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:21786200-21788200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr19:21786200-21788400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:21786400-21787400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr19:21786400-21788200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:21786600-21787400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:21786600-21787400	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr19:21786600-21787400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr19:21786600-21787400	Flanking Active TSS	Fetal Kidney	kidney
16	chr19:21786600-21787600	Active TSS	NHEK	skin
17	chr19:21786600-21787800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:21786600-21788200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:21786600-21788200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr19:21786600-21788200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr19:21786800-21787400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:21786800-21787400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr19:21786800-21787400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr19:21786800-21787400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr19:21786800-21787400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:21786800-21787600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:21786800-21787600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:21786800-21787600	Bivalent/Poised TSS	HepG2	liver
29	chr19:21786800-21787800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:21786800-21787800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:21786800-21787800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr19:21786800-21787800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr19:21786800-21787800	Active TSS	Osteobl	bone
34	chr19:21786800-21788000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr19:21786800-21788000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:21786800-21788000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr19:21786800-21788200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:21786800-21788200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr19:21786800-21788200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr19:21786800-21788200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:21786800-21788200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr19:21786800-21788200	Flanking Active TSS	Fetal Lung	lung
43	chr19:21786800-21788200	Active TSS	Hela-S3	cervix
44	chr19:21786800-21788200	Active TSS	NHLF	lung
45	chr19:21786800-21788400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr19:21786800-21788400	Active TSS	Colonic Mucosa	Colon
47	chr19:21786800-21788400	Active TSS	NHDF-Ad	bronchial
48	chr19:21787000-21787400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr19:21787000-21787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:21787000-21787400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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