Variant report

Variant	rs4806283
Chromosome Location	chr19:36687882-36687883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10409091	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10411031	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10416179	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10416237	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10417892	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12973781	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2070132	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2287897	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2287898	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2310856	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2432039	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2432042	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2432043	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2432045	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2432049	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2432051	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2432052	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2432054	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2438514	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2438517	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28408024	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2918375	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918378	0.91[EUR][1000 genomes]
rs2918379	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2918380	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2972321	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972537	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972539	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2972542	0.93[EUR][1000 genomes]
rs4239585	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6510527	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7251727	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8102020	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36669600-36704800	Weak transcription	Psoas Muscle	Psoas
2	chr19:36673800-36704800	Weak transcription	Fetal Kidney	kidney
3	chr19:36674000-36704800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36674400-36690000	Weak transcription	NHDF-Ad	bronchial
5	chr19:36674400-36704600	Weak transcription	Fetal Brain Male	brain
6	chr19:36674600-36704600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:36674600-36704600	Weak transcription	HMEC	breast
8	chr19:36674600-36704600	Weak transcription	NH-A	brain
9	chr19:36674600-36704600	Weak transcription	NHEK	skin
10	chr19:36674600-36704800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:36674800-36694400	Weak transcription	Fetal Heart	heart
12	chr19:36682600-36705000	Weak transcription	Small Intestine	intestine
13	chr19:36685200-36704800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:36685400-36704600	Weak transcription	HSMM	muscle
15	chr19:36685800-36699400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:36685800-36704600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:36685800-36704800	Weak transcription	Colon Smooth Muscle	Colon
18	chr19:36686000-36688000	Weak transcription	NHLF	lung
19	chr19:36686000-36688400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:36686000-36688600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:36686000-36688800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:36686000-36689800	Weak transcription	Primary T cells from cord blood	blood
23	chr19:36686000-36690400	Weak transcription	Fetal Intestine Small	intestine
24	chr19:36686000-36691600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:36686000-36692000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:36686000-36692000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:36686000-36692000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:36686000-36692000	Weak transcription	Right Ventricle	heart
29	chr19:36686000-36692200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:36686000-36692600	Weak transcription	Esophagus	oesophagus
31	chr19:36686000-36692600	Weak transcription	Lung	lung
32	chr19:36686000-36692600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr19:36686000-36695800	Weak transcription	Ovary	ovary
34	chr19:36686000-36697000	Weak transcription	Aorta	Aorta
35	chr19:36686000-36697800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:36686000-36698800	Weak transcription	Brain Anterior Caudate	brain
37	chr19:36686000-36702800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:36686000-36703800	Weak transcription	Dnd41	blood
39	chr19:36686000-36704000	Weak transcription	Pancreas	Pancrea
40	chr19:36686000-36704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:36686000-36704600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:36686000-36704600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:36686000-36704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:36686000-36704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:36686000-36704600	Weak transcription	Colonic Mucosa	Colon
46	chr19:36686000-36704600	Weak transcription	Gastric	stomach
47	chr19:36686000-36704600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:36686000-36704600	Weak transcription	Spleen	Spleen
49	chr19:36686000-36704600	Weak transcription	Osteobl	bone
50	chr19:36686000-36704800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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