Variant report

Variant	rs4508536
Chromosome Location	chr19:21244956-21244957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10409844	0.80[ASN][1000 genomes]
rs10425969	0.80[ASN][1000 genomes]
rs10454116	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11666640	0.80[ASN][1000 genomes]
rs11672142	0.80[ASN][1000 genomes]
rs12609005	0.80[ASN][1000 genomes]
rs2164989	0.80[ASN][1000 genomes]
rs4490110	0.91[ASN][1000 genomes]
rs6511183	0.80[ASN][1000 genomes]
rs6511184	0.80[ASN][1000 genomes]
rs7249283	0.80[ASN][1000 genomes]
rs8107982	0.80[ASN][1000 genomes]
rs8112054	0.80[ASN][1000 genomes]
rs8112216	0.80[ASN][1000 genomes]
rs9304980	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	esv1805898	chr19:21233245-21256249	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
11	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21227800-21247200	Weak transcription	HepG2	liver
3	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:21236000-21247000	Weak transcription	Pancreas	Pancrea
5	chr19:21236400-21264800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr19:21238400-21248400	Weak transcription	Psoas Muscle	Psoas
7	chr19:21239200-21245400	Weak transcription	Esophagus	oesophagus
8	chr19:21239200-21246800	Weak transcription	Aorta	Aorta
9	chr19:21239800-21249400	Weak transcription	Hela-S3	cervix
10	chr19:21240000-21247400	Weak transcription	Brain Substantia Nigra	brain
11	chr19:21240000-21264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:21240000-21264800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:21240200-21245400	Weak transcription	Ovary	ovary
14	chr19:21240200-21246200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:21240200-21247600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr19:21240200-21264800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:21240800-21246800	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:21240800-21250000	Weak transcription	Fetal Thymus	thymus
19	chr19:21240800-21256800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:21241000-21245400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:21241000-21245400	Weak transcription	Brain Germinal Matrix	brain
22	chr19:21241000-21246800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:21241000-21246800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:21241000-21246800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:21241000-21246800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr19:21241000-21247000	Weak transcription	Osteobl	bone
27	chr19:21241000-21248200	Weak transcription	Brain Angular Gyrus	brain
28	chr19:21241000-21248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:21241000-21248200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr19:21241000-21264800	Weak transcription	Gastric	stomach
31	chr19:21241200-21245200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:21241200-21245200	Weak transcription	Fetal Stomach	stomach
33	chr19:21241200-21245400	Weak transcription	Left Ventricle	heart
34	chr19:21241200-21245400	Weak transcription	Thymus	Thymus
35	chr19:21241200-21245600	Weak transcription	Fetal Muscle Leg	muscle
36	chr19:21241200-21246000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:21241200-21247200	Weak transcription	Adipose Nuclei	Adipose
38	chr19:21241200-21248000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr19:21241200-21251000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:21241200-21251000	Weak transcription	NH-A	brain
41	chr19:21241200-21264800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:21241400-21246800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:21241400-21249600	Weak transcription	Placenta	Placenta
44	chr19:21241400-21251000	Weak transcription	Fetal Kidney	kidney
45	chr19:21241400-21251800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:21241400-21252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:21241400-21253600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:21241400-21264800	Weak transcription	HSMMtube	muscle
49	chr19:21241600-21246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:21241600-21246600	Weak transcription	NHDF-Ad	bronchial

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