Variant report

Variant	rs10422193
Chromosome Location	chr19:21226142-21226143
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10401931	0.81[ASN][1000 genomes]
rs10405218	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10405406	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10406661	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409844	0.83[ASN][1000 genomes]
rs10409877	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411038	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10412267	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10412688	0.97[ASN][1000 genomes]
rs10413175	0.81[ASN][1000 genomes]
rs10413692	0.97[ASN][1000 genomes]
rs10413983	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10414134	0.81[ASN][1000 genomes]
rs10417165	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10418706	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10421819	0.82[ASN][1000 genomes]
rs10423541	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10424283	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10425969	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10454116	0.84[AFR][1000 genomes]
rs11085424	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11666640	0.83[ASN][1000 genomes]
rs11667674	0.81[ASN][1000 genomes]
rs11668795	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11668952	0.81[ASN][1000 genomes]
rs11670162	0.81[ASN][1000 genomes]
rs11671397	0.81[ASN][1000 genomes]
rs11671894	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11672142	0.83[ASN][1000 genomes]
rs11672727	0.81[ASN][1000 genomes]
rs11672747	0.81[ASN][1000 genomes]
rs11878599	0.81[ASN][1000 genomes]
rs12104220	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12104387	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12608931	0.83[ASN][1000 genomes]
rs12609005	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12609167	0.89[ASN][1000 genomes]
rs12609510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12609831	0.95[ASN][1000 genomes]
rs12611115	0.97[ASN][1000 genomes]
rs12973640	0.81[ASN][1000 genomes]
rs12973921	0.81[ASN][1000 genomes]
rs12974016	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12975789	0.95[ASN][1000 genomes]
rs12976796	0.91[ASN][1000 genomes]
rs12981855	0.82[ASN][1000 genomes]
rs1609441	0.81[ASN][1000 genomes]
rs1968523	0.81[ASN][1000 genomes]
rs2013048	0.81[ASN][1000 genomes]
rs2081050	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081052	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2081054	0.89[ASN][1000 genomes]
rs2081055	0.83[ASN][1000 genomes]
rs2081056	0.83[ASN][1000 genomes]
rs2081057	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2082003	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2098681	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099648	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2112803	0.83[ASN][1000 genomes]
rs2115493	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2115494	0.81[ASN][1000 genomes]
rs2115495	0.81[ASN][1000 genomes]
rs2164987	0.88[AMR][1000 genomes]
rs2164988	0.85[ASN][1000 genomes]
rs2164989	0.83[ASN][1000 genomes]
rs2195453	0.81[ASN][1000 genomes]
rs2195454	0.81[ASN][1000 genomes]
rs2358792	0.94[ASN][1000 genomes]
rs2358795	0.95[ASN][1000 genomes]
rs2358803	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2358804	0.81[ASN][1000 genomes]
rs2884548	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35137761	1.00[EUR][1000 genomes]
rs4255903	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4292035	0.92[ASN][1000 genomes]
rs4365405	0.97[ASN][1000 genomes]
rs4488591	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4808275	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808276	0.81[ASN][1000 genomes]
rs4809119	0.81[ASN][1000 genomes]
rs4809122	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62122564	0.83[ASN][1000 genomes]
rs62122565	0.83[ASN][1000 genomes]
rs6511179	0.81[ASN][1000 genomes]
rs6511181	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511183	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511184	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511185	0.81[AMR][1000 genomes]
rs6511186	0.81[ASN][1000 genomes]
rs6511188	0.81[ASN][1000 genomes]
rs6511190	0.89[EUR][1000 genomes]
rs6511192	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511194	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511196	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511198	0.81[ASN][1000 genomes]
rs6511199	0.81[ASN][1000 genomes]
rs6511200	0.81[ASN][1000 genomes]
rs6511201	0.81[ASN][1000 genomes]
rs7246723	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7247413	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7247553	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7248087	0.94[ASN][1000 genomes]
rs7248410	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7249283	0.83[ASN][1000 genomes]
rs7249736	0.81[ASN][1000 genomes]
rs7250169	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7252277	0.95[ASN][1000 genomes]
rs7253530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7253950	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7254047	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7254053	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7254722	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7254768	0.88[ASN][1000 genomes]
rs7254982	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7257481	0.81[ASN][1000 genomes]
rs7258195	0.81[ASN][1000 genomes]
rs7258409	0.81[ASN][1000 genomes]
rs7258477	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7258831	0.90[ASN][1000 genomes]
rs7259653	0.89[ASN][1000 genomes]
rs7260268	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7260600	0.81[ASN][1000 genomes]
rs741674	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs741676	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100599	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8101222	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101412	0.81[ASN][1000 genomes]
rs8102966	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8103696	0.95[ASN][1000 genomes]
rs8103825	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106801	0.81[ASN][1000 genomes]
rs8106923	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107982	0.83[ASN][1000 genomes]
rs8111827	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112054	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8112216	0.83[ASN][1000 genomes]
rs8112500	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8182465	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304980	0.83[ASN][1000 genomes]
rs9304982	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941463	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204200-21230400	Weak transcription	Gastric	stomach
2	chr19:21204400-21227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:21204400-21229200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:21204400-21231600	Weak transcription	Colonic Mucosa	Colon
5	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
6	chr19:21204600-21227800	Weak transcription	Brain Angular Gyrus	brain
7	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:21206200-21226600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
11	chr19:21207400-21226600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:21208600-21230000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:21209200-21235600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:21210200-21232200	Weak transcription	K562	blood
15	chr19:21211400-21235400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:21211800-21228800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:21212000-21227400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:21212000-21228000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:21212000-21228200	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
21	chr19:21213400-21227000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:21214000-21230200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:21216000-21229800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:21217200-21226600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:21217400-21227200	Weak transcription	HepG2	liver
26	chr19:21217400-21230200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr19:21217400-21230400	Weak transcription	NHEK	skin
28	chr19:21218000-21227600	Weak transcription	Brain Anterior Caudate	brain
29	chr19:21218600-21227200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:21218800-21226200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr19:21218800-21226200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:21218800-21230400	Weak transcription	NHLF	lung
33	chr19:21219600-21226200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:21219600-21226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:21220400-21235200	Weak transcription	NHDF-Ad	bronchial
36	chr19:21221400-21242000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:21221600-21226600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:21222400-21230800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr19:21222400-21242200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:21222800-21227200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:21222800-21228800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:21223200-21230000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:21223400-21226800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr19:21223400-21227200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr19:21223400-21230000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:21223400-21230200	Weak transcription	HSMMtube	muscle
48	chr19:21223400-21231400	Weak transcription	Placenta	Placenta
49	chr19:21223400-21235600	Weak transcription	NH-A	brain
50	chr19:21223600-21226600	Weak transcription	Small Intestine	intestine

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