Variant report

Variant	rs539222058
Chromosome Location	chr17:45232972-45232973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45230921..45233018-chr17:45247997..45250625,2	K562	blood:
2	chr17:45230921..45233379-chr17:45247997..45250446,2	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	esv4896	chr17:45223249-45233036	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	esv3351071	chr17:45232092-45233118	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	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
15	esv3392601	chr17:45232107-45233099	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3444158	chr17:45232112-45233088	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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
21	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

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	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:45221400-45233000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:45221400-45233000	Strong transcription	NH-A	brain
7	chr17:45221400-45233200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr17:45221400-45233200	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr17:45221400-45233400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:45221400-45233400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:45221400-45233400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:45221400-45233400	Strong transcription	Liver	Liver
13	chr17:45221400-45233400	Strong transcription	Fetal Thymus	thymus
14	chr17:45221400-45233600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:45221400-45233600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:45221400-45234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:45221400-45234200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:45221400-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:45221400-45234200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:45221400-45234200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:45221400-45234200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:45221400-45234200	Weak transcription	Aorta	Aorta
23	chr17:45221400-45234200	Weak transcription	Colonic Mucosa	Colon
24	chr17:45221400-45234200	Weak transcription	Esophagus	oesophagus
25	chr17:45221400-45234200	Weak transcription	Fetal Brain Male	brain
26	chr17:45221400-45234200	Weak transcription	Fetal Heart	heart
27	chr17:45221400-45234200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr17:45221400-45234200	Weak transcription	Pancreas	Pancrea
29	chr17:45221400-45234200	Weak transcription	Right Ventricle	heart
30	chr17:45221400-45234200	Weak transcription	Small Intestine	intestine
31	chr17:45221400-45234200	Weak transcription	Stomach Mucosa	stomach
32	chr17:45221400-45234200	Strong transcription	Dnd41	blood
33	chr17:45221600-45233000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:45221800-45233400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:45222200-45233600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:45222400-45233200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:45222400-45233200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr17:45222400-45233200	Strong transcription	GM12878-XiMat	blood
39	chr17:45222400-45233400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:45222400-45233400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr17:45222400-45233400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr17:45222400-45233400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr17:45222400-45233400	Strong transcription	Fetal Muscle Leg	muscle
44	chr17:45222400-45233400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr17:45222400-45233800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr17:45222600-45233200	Strong transcription	Placenta	Placenta
47	chr17:45222600-45234200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:45222600-45234200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr17:45224800-45234200	Weak transcription	Lung	lung
50	chr17:45225000-45233400	Strong transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links