Variant report

Variant	rs59924572
Chromosome Location	chr19:38562563-38562564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12386130	1.00[EUR][1000 genomes]
rs28470392	1.00[EUR][1000 genomes]
rs45589333	1.00[EUR][1000 genomes]
rs58373634	1.00[AMR][1000 genomes]
rs59656157	1.00[AMR][1000 genomes]
rs61729146	1.00[EUR][1000 genomes]
rs7249463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254333	1.00[EUR][1000 genomes]
rs73623839	1.00[AMR][1000 genomes]
rs73623842	1.00[AMR][1000 genomes]
rs73630978	1.00[AMR][1000 genomes]
rs73630984	1.00[AMR][1000 genomes]
rs73630996	1.00[AMR][1000 genomes]
rs73630998	1.00[AMR][1000 genomes]
rs73633136	1.00[AMR][1000 genomes]
rs73633141	1.00[AMR][1000 genomes]
rs73633169	1.00[AMR][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1062518	chr19:38540454-38564913	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38528200-38573200	Weak transcription	Left Ventricle	heart
2	chr19:38539000-38572000	Weak transcription	Right Ventricle	heart
3	chr19:38539200-38591200	Weak transcription	Small Intestine	intestine
4	chr19:38543800-38563200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:38546600-38572200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr19:38547000-38563600	Weak transcription	Fetal Lung	lung
7	chr19:38549200-38564800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:38549200-38572000	Weak transcription	Liver	Liver
9	chr19:38549600-38572600	Weak transcription	Thymus	Thymus
10	chr19:38550000-38570400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr19:38550800-38563400	Weak transcription	Spleen	Spleen
12	chr19:38550800-38565200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr19:38550800-38570000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:38550800-38572200	Weak transcription	Colonic Mucosa	Colon
15	chr19:38550800-38590000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:38551000-38572000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:38551200-38562600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr19:38551200-38563600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr19:38551200-38567000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr19:38551200-38613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:38551400-38567000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:38553200-38570400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:38553800-38572000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:38554200-38572600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:38554400-38564600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:38554600-38567000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:38554600-38570400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:38554600-38571800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:38554800-38563600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:38554800-38571800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:38554800-38573200	Weak transcription	Brain Angular Gyrus	brain
32	chr19:38554800-38580200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:38555000-38563400	Weak transcription	Fetal Muscle Leg	muscle
34	chr19:38555000-38570800	Weak transcription	Fetal Intestine Large	intestine
35	chr19:38559400-38563400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:38560200-38562600	Weak transcription	GM12878-XiMat	blood
37	chr19:38560200-38563400	Weak transcription	Gastric	stomach
38	chr19:38561200-38570800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr19:38561400-38562800	Strong transcription	HSMM	muscle
40	chr19:38561400-38564600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:38561400-38570400	Weak transcription	Hela-S3	cervix
42	chr19:38561600-38563400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:38561600-38564600	Weak transcription	HepG2	liver
44	chr19:38561600-38565400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:38561600-38567200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:38561600-38570000	Weak transcription	NHLF	lung
47	chr19:38561600-38570000	Weak transcription	Osteobl	bone
48	chr19:38561600-38570600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:38561800-38562600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:38561800-38563400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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