Variant report

Variant	rs28472526
Chromosome Location	chr19:37207432-37207433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10408063	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10408318	0.97[AFR][1000 genomes]
rs10410939	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10411150	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10413697	0.90[AFR][1000 genomes]
rs10413876	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10414240	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10417106	0.97[AFR][1000 genomes]
rs10417344	0.97[AFR][1000 genomes]
rs10418271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10422700	0.97[AFR][1000 genomes]
rs10425382	0.97[AFR][1000 genomes]
rs11880022	1.00[ASN][1000 genomes]
rs11880159	1.00[ASN][1000 genomes]
rs1227559	1.00[ASN][1000 genomes]
rs1227561	1.00[ASN][1000 genomes]
rs12459208	1.00[ASN][1000 genomes]
rs12459218	1.00[ASN][1000 genomes]
rs12459243	1.00[ASN][1000 genomes]
rs12459325	1.00[ASN][1000 genomes]
rs12459377	0.90[ASN][1000 genomes]
rs12459429	1.00[ASN][1000 genomes]
rs12459527	1.00[ASN][1000 genomes]
rs12459808	1.00[ASN][1000 genomes]
rs12459894	0.90[ASN][1000 genomes]
rs12459915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459923	1.00[ASN][1000 genomes]
rs12460049	1.00[ASN][1000 genomes]
rs12460354	1.00[ASN][1000 genomes]
rs12460418	1.00[ASN][1000 genomes]
rs12460420	1.00[ASN][1000 genomes]
rs12460430	1.00[ASN][1000 genomes]
rs12460455	1.00[ASN][1000 genomes]
rs12460482	1.00[ASN][1000 genomes]
rs12460729	1.00[ASN][1000 genomes]
rs12460774	1.00[ASN][1000 genomes]
rs12461023	1.00[ASN][1000 genomes]
rs12461264	1.00[ASN][1000 genomes]
rs12461265	1.00[ASN][1000 genomes]
rs12461280	1.00[ASN][1000 genomes]
rs12461436	1.00[ASN][1000 genomes]
rs12461474	1.00[ASN][1000 genomes]
rs12461707	1.00[ASN][1000 genomes]
rs12461721	1.00[ASN][1000 genomes]
rs12461723	1.00[ASN][1000 genomes]
rs12461738	1.00[ASN][1000 genomes]
rs12461954	1.00[ASN][1000 genomes]
rs12461970	1.00[ASN][1000 genomes]
rs12462037	1.00[ASN][1000 genomes]
rs12462268	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462281	1.00[ASN][1000 genomes]
rs12462325	1.00[ASN][1000 genomes]
rs12462454	1.00[ASN][1000 genomes]
rs12462471	0.90[ASN][1000 genomes]
rs12462635	1.00[ASN][1000 genomes]
rs12462921	1.00[ASN][1000 genomes]
rs12463012	0.90[ASN][1000 genomes]
rs12974130	1.00[ASN][1000 genomes]
rs12974446	1.00[ASN][1000 genomes]
rs13345382	0.97[AFR][1000 genomes]
rs1625762	1.00[ASN][1000 genomes]
rs1673083	1.00[ASN][1000 genomes]
rs16971568	1.00[ASN][1000 genomes]
rs16973489	1.00[ASN][1000 genomes]
rs17468285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1990964	0.90[ASN][1000 genomes]
rs25419	1.00[ASN][1000 genomes]
rs28398875	1.00[ASN][1000 genomes]
rs28418630	0.81[AFR][1000 genomes]
rs28465595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28645577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28742010	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28818888	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2912407	0.82[AFR][1000 genomes]
rs2967425	0.81[AFR][1000 genomes]
rs2967426	0.87[AFR][1000 genomes]
rs2967428	0.87[AFR][1000 genomes]
rs2967430	0.82[AFR][1000 genomes]
rs34051375	1.00[ASN][1000 genomes]
rs34106502	1.00[ASN][1000 genomes]
rs35621405	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35706444	1.00[ASN][1000 genomes]
rs3859520	0.90[ASN][1000 genomes]
rs491951	0.90[ASN][1000 genomes]
rs500244	0.90[ASN][1000 genomes]
rs58245911	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58880289	0.97[AFR][1000 genomes]
rs59951429	0.89[AFR][1000 genomes]
rs60268308	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60615280	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61750934	1.00[ASN][1000 genomes]
rs6510562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73607078	0.97[AFR][1000 genomes]
rs73609133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73609981	0.89[AFR][1000 genomes]
rs73612010	0.93[AFR][1000 genomes]
rs73612013	0.97[AFR][1000 genomes]
rs73612031	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73612039	0.97[AFR][1000 genomes]
rs73612043	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73612047	0.97[AFR][1000 genomes]
rs73612050	0.97[AFR][1000 genomes]
rs73612052	0.97[AFR][1000 genomes]
rs73615692	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73615693	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73617803	0.90[AFR][1000 genomes]
rs7508258	1.00[ASN][1000 genomes]
rs8104355	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8111419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37194400-37211600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
3	chr19:37194400-37213400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr19:37194400-37214400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:37194400-37214600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:37194400-37215600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37194400-37219400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:37194400-37221400	ZNF genes & repeats	Dnd41	blood
9	chr19:37194400-37253800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:37194600-37211400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr19:37194600-37211800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr19:37194600-37212000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:37194600-37213000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr19:37194600-37214400	ZNF genes & repeats	A549	lung
15	chr19:37194600-37214600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr19:37194600-37214800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr19:37194600-37215000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:37194600-37215200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:37194600-37220800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr19:37194600-37227000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
22	chr19:37194800-37214600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr19:37196000-37211600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:37196200-37214600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr19:37196400-37212600	ZNF genes & repeats	Fetal Lung	lung
26	chr19:37196400-37214200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:37196400-37214400	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr19:37196600-37214600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:37196800-37208000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:37196800-37211800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr19:37196800-37214600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:37197000-37211000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:37197000-37211400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:37197000-37212600	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr19:37197000-37215000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr19:37197000-37226400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:37197200-37212200	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr19:37198600-37211600	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr19:37199000-37211800	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr19:37199000-37214400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr19:37199000-37215000	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr19:37199400-37211400	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr19:37200000-37211400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:37200000-37211600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr19:37200000-37211800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:37200400-37212000	ZNF genes & repeats	Osteobl	bone
47	chr19:37200400-37214400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:37200600-37211400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
49	chr19:37200600-37214200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:37200600-37214600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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