Variant report

Variant	rs533022716
Chromosome Location	chr17:45233650-45233651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
3	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3365602	chr17:45214397-45234526	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3399918	chr17:45229197-45234362	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3387028	chr17:45231973-45234392	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3401650	chr17:45231984-45234386	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3529690	chr17:45232034-45234339	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3529691	chr17:45232034-45234339	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3414065	chr17:45232062-45234377	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3325942	chr17:45232094-45234328	Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3409783	chr17:45232114-45234298	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3368008	chr17:45232630-45234329	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv3323744	chr17:45232650-45234299	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3381721	chr17:45232697-45234329	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3331250	chr17:45232717-45234299	Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3394883	chr17:45233015-45234332	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3335570	chr17:45233035-45234302	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3429315	chr17:45233047-45234298	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:45221400-45234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:45221400-45234200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:45221400-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr17:45221400-45234200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:45221400-45234200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:45221400-45234200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:45221400-45234200	Weak transcription	Aorta	Aorta
11	chr17:45221400-45234200	Weak transcription	Colonic Mucosa	Colon
12	chr17:45221400-45234200	Weak transcription	Esophagus	oesophagus
13	chr17:45221400-45234200	Weak transcription	Fetal Brain Male	brain
14	chr17:45221400-45234200	Weak transcription	Fetal Heart	heart
15	chr17:45221400-45234200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr17:45221400-45234200	Weak transcription	Pancreas	Pancrea
17	chr17:45221400-45234200	Weak transcription	Right Ventricle	heart
18	chr17:45221400-45234200	Weak transcription	Small Intestine	intestine
19	chr17:45221400-45234200	Weak transcription	Stomach Mucosa	stomach
20	chr17:45221400-45234200	Strong transcription	Dnd41	blood
21	chr17:45222400-45233800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr17:45222600-45234200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:45222600-45234200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:45224800-45234200	Weak transcription	Lung	lung
25	chr17:45225800-45233800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:45225800-45233800	Strong transcription	Fetal Intestine Large	intestine
27	chr17:45226600-45234400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:45228600-45234200	Weak transcription	Ovary	ovary
29	chr17:45229200-45234200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:45229400-45234200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:45229400-45234200	Weak transcription	Brain Angular Gyrus	brain
32	chr17:45229400-45234200	Weak transcription	Brain Anterior Caudate	brain
33	chr17:45229400-45234200	Weak transcription	Brain Substantia Nigra	brain
34	chr17:45230000-45234600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:45230600-45234200	Strong transcription	Fetal Stomach	stomach
36	chr17:45230800-45234200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:45230800-45234200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:45230800-45234200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:45230800-45234200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr17:45230800-45234200	Weak transcription	Fetal Kidney	kidney
41	chr17:45231400-45234200	Weak transcription	Spleen	Spleen
42	chr17:45231600-45236200	Weak transcription	Brain Germinal Matrix	brain
43	chr17:45232000-45234200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:45232000-45234200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:45232200-45234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr17:45232200-45234200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:45232200-45234200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr17:45232200-45234200	Weak transcription	Primary B cells from cord blood	blood
49	chr17:45232200-45234200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr17:45232200-45234200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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