Variant report

Variant	rs416001
Chromosome Location	chr19:21361417-21361418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10406253	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10407190	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11668640	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12980860	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2115498	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2358807	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2358808	0.99[ASN][1000 genomes]
rs29703	0.90[ASN][1000 genomes]
rs29705	0.90[ASN][1000 genomes]
rs29715	0.88[ASN][1000 genomes]
rs29720	0.88[ASN][1000 genomes]
rs29722	0.92[ASN][1000 genomes]
rs29725	0.94[ASN][1000 genomes]
rs29728	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs29729	0.96[ASN][1000 genomes]
rs30109	0.83[ASN][1000 genomes]
rs30111	0.83[ASN][1000 genomes]
rs388229	0.98[ASN][1000 genomes]
rs57941450	0.83[AFR][1000 genomes]
rs6511202	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6511204	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6511205	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7248419	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7257196	0.81[ASN][1000 genomes]
rs7259368	0.82[ASN][1000 genomes]
rs8101918	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8108314	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911414	chr19:21355473-21454672	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21325400-21361800	Weak transcription	Small Intestine	intestine
2	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
3	chr19:21326800-21361800	Weak transcription	Stomach Mucosa	stomach
4	chr19:21331000-21371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:21333000-21373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21333400-21364800	Weak transcription	HUVEC	blood vessel
7	chr19:21335000-21365000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:21335800-21362800	Weak transcription	Psoas Muscle	Psoas
9	chr19:21336000-21362000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:21336200-21361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:21336200-21361800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr19:21341800-21361600	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:21342800-21362600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:21345600-21363000	Weak transcription	HepG2	liver
15	chr19:21348600-21366400	Weak transcription	Brain Substantia Nigra	brain
16	chr19:21349600-21370600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:21349800-21363200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:21350200-21362000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:21351400-21363800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr19:21352200-21363800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:21353000-21362800	Weak transcription	Hela-S3	cervix
22	chr19:21353200-21362800	Weak transcription	NHLF	lung
23	chr19:21353200-21363000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:21353200-21364800	Weak transcription	Brain Anterior Caudate	brain
25	chr19:21353200-21364800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:21353400-21363400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:21353800-21364800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:21354200-21361600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:21355000-21369600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:21355200-21362000	Strong transcription	Fetal Intestine Large	intestine
31	chr19:21355200-21369400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:21355200-21370800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:21355200-21371000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:21356400-21361600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:21356400-21364400	Strong transcription	Ovary	ovary
36	chr19:21356600-21368600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr19:21357400-21366000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:21357400-21369000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr19:21358000-21362800	Weak transcription	Gastric	stomach
40	chr19:21358000-21366000	Weak transcription	Right Ventricle	heart
41	chr19:21358200-21368600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
42	chr19:21358400-21362800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:21358400-21363400	Weak transcription	Pancreas	Pancrea
44	chr19:21358600-21361600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr19:21358600-21369000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:21358800-21361800	Weak transcription	Fetal Brain Male	brain
47	chr19:21358800-21363000	Weak transcription	Colonic Mucosa	Colon
48	chr19:21358800-21363400	Weak transcription	Esophagus	oesophagus
49	chr19:21358800-21365000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:21359200-21364000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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