Variant report

Variant	rs414122
Chromosome Location	chr19:44459278-44459279
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10405458	1.00[EUR][1000 genomes]
rs393737	1.00[EUR][1000 genomes]
rs407806	1.00[EUR][1000 genomes]
rs441225	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44454800-44460000	ZNF genes & repeats	Fetal Brain Male	brain
2	chr19:44455800-44459400	Weak transcription	Gastric	stomach
3	chr19:44456000-44459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:44456000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:44456000-44462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:44456000-44463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
8	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:44456200-44459800	ZNF genes & repeats	Fetal Stomach	stomach
10	chr19:44456200-44460200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr19:44456400-44460000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:44456400-44460000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr19:44456400-44460400	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:44456400-44460600	ZNF genes & repeats	Fetal Lung	lung
16	chr19:44456400-44461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:44456400-44462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
20	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
22	chr19:44456600-44459400	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:44456600-44461600	Weak transcription	NHLF	lung
24	chr19:44456600-44461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:44456600-44461800	Weak transcription	HepG2	liver
26	chr19:44456600-44462600	Weak transcription	HSMMtube	muscle
27	chr19:44456600-44463200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:44456600-44464600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:44456800-44460000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:44456800-44460400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:44456800-44461600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:44456800-44463400	Weak transcription	Fetal Heart	heart
34	chr19:44456800-44466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:44457000-44459400	Weak transcription	HSMM	muscle
36	chr19:44457000-44461000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:44457000-44463400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr19:44457200-44460000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
39	chr19:44457200-44461000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr19:44457400-44460000	ZNF genes & repeats	Ovary	ovary
41	chr19:44457600-44459400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:44457600-44459800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr19:44457600-44459800	ZNF genes & repeats	Colon Smooth Muscle	Colon
44	chr19:44457600-44459800	ZNF genes & repeats	Fetal Kidney	kidney
45	chr19:44458000-44460400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr19:44458200-44459600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr19:44458400-44460200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr19:44458600-44459600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:44458600-44459600	Strong transcription	Brain Angular Gyrus	brain
50	chr19:44458600-44459600	ZNF genes & repeats	Colonic Mucosa	Colon

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