Variant report

Variant	rs1685562
Chromosome Location	chr19:42624662-42624663
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1055512	1.00[EUR][1000 genomes]
rs1205964	1.00[EUR][1000 genomes]
rs35272495	1.00[EUR][1000 genomes]
rs61733017	1.00[EUR][1000 genomes]
rs73552843	1.00[EUR][1000 genomes]
rs73552847	1.00[EUR][1000 genomes]
rs874013	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911783	chr19:42575462-42624662	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42586600-42626600	Weak transcription	Brain Anterior Caudate	brain
2	chr19:42586600-42627600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:42586600-42631600	Weak transcription	Brain Angular Gyrus	brain
4	chr19:42596000-42625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:42603600-42625200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:42613000-42626200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:42613400-42626800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:42618000-42627000	Weak transcription	Lung	lung
9	chr19:42618400-42625400	Weak transcription	Esophagus	oesophagus
10	chr19:42618400-42626800	Weak transcription	Colonic Mucosa	Colon
11	chr19:42618800-42625000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:42618800-42625800	Weak transcription	HSMMtube	muscle
13	chr19:42618800-42636000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:42619000-42624800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:42619000-42625000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:42619000-42625200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:42619000-42625200	Weak transcription	A549	lung
18	chr19:42619000-42625200	Weak transcription	Osteobl	bone
19	chr19:42619000-42627400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:42619200-42626000	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr19:42619600-42624800	Weak transcription	HMEC	breast
22	chr19:42619800-42624800	Weak transcription	HUVEC	blood vessel
23	chr19:42619800-42625000	Weak transcription	NH-A	brain
24	chr19:42619800-42625000	Weak transcription	NHLF	lung
25	chr19:42619800-42625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:42619800-42625600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:42619800-42627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:42620200-42625000	Weak transcription	NHDF-Ad	bronchial
29	chr19:42620400-42625000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:42620400-42627200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr19:42620800-42625000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr19:42620800-42625200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:42620800-42625200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:42620800-42625600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:42621000-42624800	Weak transcription	NHEK	skin
36	chr19:42621200-42627200	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:42621400-42624800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:42621400-42625200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:42621400-42628600	Weak transcription	Fetal Brain Female	brain
40	chr19:42621600-42624800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:42621600-42626800	Weak transcription	Brain Germinal Matrix	brain
42	chr19:42621800-42625000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:42621800-42625000	Weak transcription	Primary T cells from cord blood	blood
44	chr19:42621800-42625000	Weak transcription	GM12878-XiMat	blood
45	chr19:42622000-42625000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:42623000-42625000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:42623000-42625000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr19:42623000-42625000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:42623000-42625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:42623000-42625200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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