Variant report

Variant	rs2299936
Chromosome Location	chr19:44457602-44457603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10402944	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429734	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs366431	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs368492	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs376655	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs377931	0.84[EUR][1000 genomes]
rs377934	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381220	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs381872	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs385202	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs385578	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs386249	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs386747	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs387504	0.80[AMR][1000 genomes]
rs388547	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs390134	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs391961	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs394132	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs394380	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs395419	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs396188	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs400591	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs401770	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs413061	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs415468	0.90[EUR][1000 genomes]
rs415867	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs424041	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs427401	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs429611	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs437700	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs439417	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs441386	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs441742	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs442543	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs444816	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs445865	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs453682	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs454376	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[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:67 , 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	chr19:44456000-44458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:44456000-44458600	Weak transcription	Colonic Mucosa	Colon
6	chr19:44456000-44459200	Weak transcription	Fetal Intestine Large	intestine
7	chr19:44456000-44459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:44456000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:44456000-44462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:44456000-44463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
12	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:44456200-44458400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:44456200-44459800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr19:44456200-44460200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr19:44456400-44457800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:44456400-44458000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr19:44456400-44458400	Weak transcription	HMEC	breast
20	chr19:44456400-44460000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:44456400-44460000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:44456400-44460400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr19:44456400-44460600	ZNF genes & repeats	Fetal Lung	lung
24	chr19:44456400-44461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:44456400-44462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
28	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
30	chr19:44456600-44458600	Weak transcription	Brain Anterior Caudate	brain
31	chr19:44456600-44458600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:44456600-44458600	Weak transcription	Right Ventricle	heart
33	chr19:44456600-44459000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:44456600-44459200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:44456600-44459400	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:44456600-44461600	Weak transcription	NHLF	lung
37	chr19:44456600-44461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:44456600-44461800	Weak transcription	HepG2	liver
39	chr19:44456600-44462600	Weak transcription	HSMMtube	muscle
40	chr19:44456600-44463200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:44456600-44464600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:44456800-44458200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:44456800-44458600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:44456800-44458600	Weak transcription	Brain Angular Gyrus	brain
46	chr19:44456800-44458600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:44456800-44458800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:44456800-44460000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:44456800-44460400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:44456800-44461600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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