Variant report

Variant	esv2576756
Chromosome Location	chr17:59916415-59917840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59485300..59495746-chr17:59906301..59920408,36	MCF-7	breast:
2	chr17:59718287..59720917-chr17:59914782..59916629,2	MCF-7	breast:
3	chr17:59910616..59917582-chr17:59936691..59943102,15	MCF-7	breast:
4	chr17:59915399..59917132-chr9:100865983..100868318,2	MCF-7	breast:
5	chr17:59494436..59494956-chr17:59915499..59916446,2	MCF-7	breast:
6	chr17:59496517..59498736-chr17:59916457..59918359,2	MCF-7	breast:
7	chr17:59800588..59801107-chr17:59916679..59917311,2	MCF-7	breast:
8	chr17:59754587..59756738-chr17:59917430..59920080,2	MCF-7	breast:
9	chr17:59913331..59919987-chr20:55836222..55842888,9	MCF-7	breast:
10	chr17:59711578..59716020-chr17:59910074..59916640,13	MCF-7	breast:
11	chr17:59914601..59917042-chr17:59925140..59928901,4	MCF-7	breast:
12	chr17:59498730..59500384-chr17:59914987..59917975,2	MCF-7	breast:
13	chr17:59915226..59916976-chr17:59918935..59921817,2	K562	blood:
14	chr17:59916411..59918258-chr17:60141460..60143783,2	K562	blood:
15	chr17:59706671..59708284-chr17:59915327..59917234,2	MCF-7	breast:
16	chr17:59800134..59800926-chr17:59916489..59917039,2	MCF-7	breast:
17	chr17:59800201..59801052-chr17:59916636..59917359,3	MCF-7	breast:
18	chr17:59800583..59801312-chr17:59916811..59917454,4	MCF-7	breast:
19	chr17:59916325..59916973-chr20:55689296..55689915,2	MCF-7	breast:
20	chr17:59486004..59494842-chr17:59908668..59916445,28	MCF-7	breast:
21	chr17:59713017..59714080-chr17:59915673..59916986,6	MCF-7	breast:
22	chr17:59911641..59916436-chr20:55839275..55842881,5	MCF-7	breast:
23	chr17:59800153..59801027-chr17:59916762..59917391,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000121068	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000108510	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561718727	chr17:59916421-59916422	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs145385282	chr17:59916504-59916505	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs76378314	chr17:59916509-59916510	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs2066962	chr17:59916524-59916525	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs80220241	chr17:59916568-59916569	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs551253571	chr17:59916636-59916637	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs542693215	chr17:59916669-59916670	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs566781785	chr17:59916690-59916691	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs559212363	chr17:59916759-59916760	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs528667494	chr17:59916760-59916761	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs545631986	chr17:59916768-59916769	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs565537946	chr17:59916807-59916808	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs531233248	chr17:59916812-59916813	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs527564507	chr17:59916847-59916848	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs16945670	chr17:59916877-59916878	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183586995	chr17:59916938-59916939	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs530071643	chr17:59916952-59916953	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs369009407	chr17:59916979-59916980	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs529263821	chr17:59917027-59917028	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs146600597	chr17:59917034-59917035	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs534472061	chr17:59917041-59917042	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs371491307	chr17:59917077-59917078	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs557537035	chr17:59917082-59917083	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs568110394	chr17:59917087-59917088	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs539071481	chr17:59917139-59917140	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs571157662	chr17:59917140-59917141	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs62068840	chr17:59917200-59917201	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs536938963	chr17:59917235-59917236	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs557434101	chr17:59917250-59917251	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs79131417	chr17:59917276-59917277	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs61169879	chr17:59917366-59917367	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143389449	chr17:59917371-59917372	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs72843728	chr17:59917389-59917390	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572982291	chr17:59917412-59917413	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs148379195	chr17:59917447-59917448	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs565474823	chr17:59917449-59917450	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs531167517	chr17:59917457-59917458	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs573615517	chr17:59917458-59917459	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs141390678	chr17:59917501-59917502	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs540920739	chr17:59917522-59917523	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs561449805	chr17:59917545-59917546	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs57902513	chr17:59917604-59917605	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11334899	chr17:59917717-59917718	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs76355474	chr17:59917720-59917721	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs74337060	chr17:59917732-59917733	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs398031271	chr17:59917736-59917737	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs150408764	chr17:59917750-59917751	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs372585939	chr17:59917776-59917777	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs573682783	chr17:59917781-59917782	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
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
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
intellectual deficit	22052739	CNVD
no characteristic dysmorphism	22052739	CNVD
speech delay	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59863600-59925000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:59870400-59933400	Weak transcription	Fetal Intestine Large	intestine
3	chr17:59884200-59933200	Weak transcription	K562	blood
4	chr17:59894000-59922400	Weak transcription	Osteobl	bone
5	chr17:59894800-59922000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr17:59898800-59920800	Weak transcription	Thymus	Thymus
7	chr17:59898800-59939600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr17:59898800-59939800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:59899200-59919000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr17:59899400-59920600	Weak transcription	Fetal Thymus	thymus
11	chr17:59899400-59924200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:59904200-59927000	Weak transcription	Fetal Kidney	kidney
13	chr17:59904800-59933200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:59905400-59923800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr17:59905400-59931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:59905600-59923800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:59905800-59919000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:59905800-59920600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:59905800-59923600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:59905800-59939000	Weak transcription	Primary T cells from cord blood	blood
21	chr17:59906000-59919200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:59906200-59921400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:59906200-59940200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:59906400-59919000	Weak transcription	GM12878-XiMat	blood
25	chr17:59906400-59919200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr17:59907800-59920200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:59910000-59921200	Weak transcription	Fetal Muscle Leg	muscle
28	chr17:59910200-59918800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:59911200-59921000	Weak transcription	Fetal Stomach	stomach
30	chr17:59911600-59937800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr17:59911800-59939000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:59912000-59919200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:59912000-59919400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:59912000-59925600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:59912000-59938400	Weak transcription	HUVEC	blood vessel
36	chr17:59912200-59921600	Weak transcription	NH-A	brain
37	chr17:59912200-59939200	Weak transcription	HSMM	muscle
38	chr17:59912200-59939800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr17:59912400-59918400	Weak transcription	Hela-S3	cervix
40	chr17:59912400-59918800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:59912400-59919200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:59912400-59919400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:59912400-59920400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:59912400-59921400	Weak transcription	HMEC	breast
45	chr17:59912400-59923600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr17:59912400-59931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:59912400-59931400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:59912400-59938600	Weak transcription	NHDF-Ad	bronchial
49	chr17:59912400-59938600	Weak transcription	NHEK	skin
50	chr17:59912400-59939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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