Variant report

Variant	rs9783944
Chromosome Location	chr19:40549903-40549904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10403646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883159	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13382054	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28832070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs337795	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs57554707	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs61424085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7250945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258111	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258718	1.00[AMR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40548400-40552400	Weak transcription	Hela-S3	cervix
2	chr19:40549000-40550000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:40549000-40550000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:40549000-40550000	ZNF genes & repeats	Aorta	Aorta
5	chr19:40549000-40550000	ZNF genes & repeats	Fetal Muscle Leg	muscle
6	chr19:40549000-40550200	Strong transcription	Right Ventricle	heart
7	chr19:40549000-40550600	ZNF genes & repeats	Ovary	ovary
8	chr19:40549000-40551200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr19:40549000-40551800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:40549000-40553200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr19:40549000-40553200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr19:40549000-40553400	ZNF genes & repeats	Fetal Lung	lung
13	chr19:40549000-40554200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:40549000-40554800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr19:40549000-40556800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr19:40549000-40556800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:40549000-40559800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:40549200-40550000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:40549200-40550000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:40549200-40550000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
21	chr19:40549200-40550000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:40549200-40550000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:40549200-40550000	ZNF genes & repeats	Esophagus	oesophagus
24	chr19:40549200-40550000	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr19:40549200-40550000	ZNF genes & repeats	Fetal Stomach	stomach
26	chr19:40549200-40550000	ZNF genes & repeats	Gastric	stomach
27	chr19:40549200-40550000	ZNF genes & repeats	Left Ventricle	heart
28	chr19:40549200-40550000	ZNF genes & repeats	Lung	lung
29	chr19:40549200-40550000	ZNF genes & repeats	Pancreas	Pancrea
30	chr19:40549200-40550000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr19:40549200-40550000	ZNF genes & repeats	Spleen	Spleen
32	chr19:40549200-40550200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:40549200-40550200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr19:40549200-40550600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:40549200-40550600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:40549200-40550600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr19:40549200-40550600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:40549200-40550600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:40549200-40550600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr19:40549200-40550600	ZNF genes & repeats	Thymus	Thymus
41	chr19:40549200-40551000	Strong transcription	Psoas Muscle	Psoas
42	chr19:40549200-40551200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:40549200-40551200	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr19:40549200-40551400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:40549200-40551400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
46	chr19:40549200-40551600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr19:40549200-40552000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:40549200-40552600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
49	chr19:40549200-40552800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr19:40549200-40552800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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