Variant report

Variant	esv3323698
Chromosome Location	chr17:45229910-45232061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45229552..45231900-chr17:45241796..45244433,2	K562	blood:
2	chr1:25269703..25270473-chr17:45231357..45232201,2	MCF-7	breast:
3	chr17:45229066..45231948-chr17:45400564..45402346,2	K562	blood:
4	chr17:45230921..45233379-chr17:45247997..45250446,2	K562	blood:
5	chr17:45230921..45233018-chr17:45247997..45250625,2	K562	blood:
6	chr17:45230648..45232405-chr17:45259040..45262576,3	K562	blood:
7	chr17:45231539..45232062-chr2:133019343..133019865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178852	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000263293	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11570500	chr17:45229925-45229926	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537694519	chr17:45229926-45229927	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11570499	chr17:45229929-45229930	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569767264	chr17:45229970-45229971	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs180955998	chr17:45229975-45229976	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538616382	chr17:45230000-45230001	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373086500	chr17:45230024-45230025	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs150451511	chr17:45230111-45230112	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs74905672	chr17:45230176-45230177	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572086187	chr17:45230193-45230194	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11570498	chr17:45230284-45230285	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554895856	chr17:45230288-45230289	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11570497	chr17:45230298-45230299	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs221596	chr17:45230311-45230312	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563611199	chr17:45230340-45230341	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11570496	chr17:45230368-45230369	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141428277	chr17:45230413-45230414	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545910047	chr17:45230422-45230423	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs11079760	chr17:45230427-45230428	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528468043	chr17:45230455-45230456	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566269092	chr17:45230522-45230523	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs190431885	chr17:45230523-45230524	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147022277	chr17:45230560-45230561	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138027159	chr17:45230569-45230570	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149076670	chr17:45230588-45230589	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs538701837	chr17:45230592-45230593	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558689729	chr17:45230624-45230625	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181578061	chr17:45230676-45230677	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534646408	chr17:45230694-45230695	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11570495	chr17:45230964-45230965	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs574706979	chr17:45231099-45231100	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs565858655	chr17:45231190-45231191	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs543376537	chr17:45231198-45231199	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs530100609	chr17:45231229-45231230	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs377323844	chr17:45231259-45231260	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs557086462	chr17:45231275-45231276	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs576638495	chr17:45231289-45231290	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs11570494	chr17:45231314-45231315	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs548015932	chr17:45231365-45231366	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs11570493	chr17:45231374-45231375	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs572889658	chr17:45231377-45231378	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs541853068	chr17:45231413-45231414	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs536994001	chr17:45231415-45231416	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs375339300	chr17:45231454-45231455	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs536543231	chr17:45231456-45231457	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs573255825	chr17:45231488-45231489	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs12453390	chr17:45231489-45231490	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs186283814	chr17:45231692-45231693	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs551005940	chr17:45231762-45231763	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs564660961	chr17:45231769-45231770	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

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	chr17:45216400-45232600	Strong transcription	Osteobl	bone
5	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:45220000-45232800	Strong transcription	A549	lung
7	chr17:45221400-45230400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr17:45221400-45230400	Weak transcription	Spleen	Spleen
9	chr17:45221400-45231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:45221400-45231800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:45221400-45231800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:45221400-45232600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:45221400-45232800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr17:45221400-45232800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:45221400-45233000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:45221400-45233000	Strong transcription	NH-A	brain
17	chr17:45221400-45233200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr17:45221400-45233200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr17:45221400-45233400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:45221400-45233400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:45221400-45233400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:45221400-45233400	Strong transcription	Liver	Liver
23	chr17:45221400-45233400	Strong transcription	Fetal Thymus	thymus
24	chr17:45221400-45233600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:45221400-45233600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:45221400-45234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr17:45221400-45234200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:45221400-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:45221400-45234200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:45221400-45234200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:45221400-45234200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr17:45221400-45234200	Weak transcription	Aorta	Aorta
33	chr17:45221400-45234200	Weak transcription	Colonic Mucosa	Colon
34	chr17:45221400-45234200	Weak transcription	Esophagus	oesophagus
35	chr17:45221400-45234200	Weak transcription	Fetal Brain Male	brain
36	chr17:45221400-45234200	Weak transcription	Fetal Heart	heart
37	chr17:45221400-45234200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr17:45221400-45234200	Weak transcription	Pancreas	Pancrea
39	chr17:45221400-45234200	Weak transcription	Right Ventricle	heart
40	chr17:45221400-45234200	Weak transcription	Small Intestine	intestine
41	chr17:45221400-45234200	Weak transcription	Stomach Mucosa	stomach
42	chr17:45221400-45234200	Strong transcription	Dnd41	blood
43	chr17:45221600-45233000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr17:45221800-45233400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:45222200-45233600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:45222400-45230800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:45222400-45233200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:45222400-45233200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr17:45222400-45233200	Strong transcription	GM12878-XiMat	blood
50	chr17:45222400-45233400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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