Variant report

Variant	rs62108930
Chromosome Location	chr19:40553024-40553025
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40552393..40554137-chr19:40562191..40564319,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs577722	0.81[EUR][1000 genomes]
rs593990	0.81[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40549000-40553200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr19:40549000-40553200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr19:40549000-40553400	ZNF genes & repeats	Fetal Lung	lung
4	chr19:40549000-40554200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:40549000-40554800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr19:40549000-40556800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr19:40549000-40556800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:40549000-40559800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:40549200-40553200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:40549200-40553400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
11	chr19:40549200-40553800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:40549200-40555200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr19:40549200-40555800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:40549200-40556400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:40549200-40556800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:40549200-40556800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:40549200-40556800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr19:40549200-40556800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:40549200-40556800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:40549200-40556800	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr19:40549200-40556800	ZNF genes & repeats	Fetal Brain Female	brain
22	chr19:40549200-40556800	ZNF genes & repeats	Fetal Kidney	kidney
23	chr19:40549200-40556800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr19:40549200-40557800	ZNF genes & repeats	Liver	Liver
25	chr19:40549400-40554400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr19:40549400-40556800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr19:40549400-40556800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr19:40549400-40556800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr19:40549400-40556800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:40549600-40556800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:40549600-40556800	Strong transcription	Rectal Smooth Muscle	rectum
32	chr19:40549800-40556800	ZNF genes & repeats	A549	lung
33	chr19:40549800-40557000	ZNF genes & repeats	GM12878-XiMat	blood
34	chr19:40550000-40554800	Strong transcription	Placenta	Placenta
35	chr19:40550000-40556000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:40550000-40556000	Strong transcription	Fetal Thymus	thymus
37	chr19:40550000-40556800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:40550000-40561200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:40550200-40553200	ZNF genes & repeats	Fetal Heart	heart
40	chr19:40550400-40557000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:40550600-40554600	Strong transcription	NH-A	brain
42	chr19:40550600-40556800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:40550600-40556800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:40550600-40556800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:40550600-40560600	Weak transcription	Stomach Mucosa	stomach
46	chr19:40551000-40555000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr19:40551000-40556600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:40551200-40553600	Strong transcription	Psoas Muscle	Psoas
49	chr19:40551200-40555000	Strong transcription	Brain Cingulate Gyrus	brain
50	chr19:40551200-40555800	Strong transcription	Brain Angular Gyrus	brain

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