Variant report

Variant	rs2299937
Chromosome Location	chr19:44457212-44457213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10407513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10411144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10414499	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10416702	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10419785	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2159622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57873846	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73933625	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][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	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

No data

Chromatin state (count:68 , 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	chr19:44455800-44459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:44455800-44459400	Weak transcription	Gastric	stomach
4	chr19:44456000-44457400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr19:44456000-44458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:44456000-44458600	Weak transcription	Colonic Mucosa	Colon
7	chr19:44456000-44459200	Weak transcription	Fetal Intestine Large	intestine
8	chr19:44456000-44459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:44456000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:44456000-44462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:44456000-44463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
13	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:44456200-44457600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:44456200-44458400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:44456200-44459800	ZNF genes & repeats	Fetal Stomach	stomach
17	chr19:44456200-44460200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
19	chr19:44456400-44457600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr19:44456400-44457800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:44456400-44458000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:44456400-44458400	Weak transcription	HMEC	breast
23	chr19:44456400-44460000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:44456400-44460000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr19:44456400-44460400	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:44456400-44460600	ZNF genes & repeats	Fetal Lung	lung
27	chr19:44456400-44461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:44456400-44462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
31	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
33	chr19:44456600-44457400	Strong transcription	Ovary	ovary
34	chr19:44456600-44457600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:44456600-44458600	Weak transcription	Brain Anterior Caudate	brain
36	chr19:44456600-44458600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:44456600-44458600	Weak transcription	Right Ventricle	heart
38	chr19:44456600-44459000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:44456600-44459200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:44456600-44459400	Weak transcription	Brain Hippocampus Middle	brain
41	chr19:44456600-44461600	Weak transcription	NHLF	lung
42	chr19:44456600-44461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:44456600-44461800	Weak transcription	HepG2	liver
44	chr19:44456600-44462600	Weak transcription	HSMMtube	muscle
45	chr19:44456600-44463200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:44456600-44464600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:44456800-44457600	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:44456800-44457600	Weak transcription	Fetal Kidney	kidney
50	chr19:44456800-44458200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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