Variant report

Variant	rs2571052
Chromosome Location	chr19:44977566-44977567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1897820	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1897823	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1897824	0.83[AFR][1000 genomes]
rs1996823	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2253210	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2253563	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2571042	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2571043	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2571045	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2571047	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2571051	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2686760	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2686763	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2686764	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2686765	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28410042	0.94[ASN][1000 genomes]
rs6509162	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv524201	chr19:44955927-44978183	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv525472	chr19:44955927-44978183	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv912115	chr19:44957508-44995990	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv960853	chr19:44958445-44982821	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv978867	chr19:44963452-44982821	ZNF genes & repeats Strong transcription Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44966800-44992400	ZNF genes & repeats	Liver	Liver
2	chr19:44967200-44992800	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44969800-44992200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:44971600-44992200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:44972400-44977600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:44972600-44992200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:44975200-44992200	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:44975400-44992200	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:44975600-44990000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:44975600-44992200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr19:44975800-44992200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
12	chr19:44975800-44992200	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr19:44976000-44992400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr19:44976400-44992000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:44976400-44992000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
16	chr19:44976600-44992000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
17	chr19:44976600-44992200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr19:44976600-44992200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr19:44976600-44992400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
20	chr19:44977000-44989800	ZNF genes & repeats	Brain Angular Gyrus	brain
21	chr19:44977000-44990200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
22	chr19:44977000-44992000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:44977000-44992200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
24	chr19:44977000-44992200	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr19:44977000-44992400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr19:44977000-44992400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
27	chr19:44977200-44978400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:44977200-44979200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:44977200-44979800	ZNF genes & repeats	Colonic Mucosa	Colon
30	chr19:44977200-44987600	ZNF genes & repeats	Left Ventricle	heart
31	chr19:44977200-44991800	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr19:44977200-44992000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
33	chr19:44977200-44992000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr19:44977200-44992200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr19:44977200-44992800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:44977400-44979200	ZNF genes & repeats	Gastric	stomach
37	chr19:44977400-44979600	ZNF genes & repeats	Aorta	Aorta
38	chr19:44977400-44979600	ZNF genes & repeats	Pancreas	Pancrea
39	chr19:44977400-44987600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:44977400-44989600	ZNF genes & repeats	Right Ventricle	heart
41	chr19:44977400-44990000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:44977400-44992000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr19:44977400-44992200	ZNF genes & repeats	Fetal Lung	lung
44	chr19:44977400-44992400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
45	chr19:44977400-44992400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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