Variant report

Variant	esv3511960
Chromosome Location	chr17:45661253-45665051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr17:45662911-45663083	T-47D	breast:	n/a	n/a
2	FOXA1	chr17:45665043-45665586	HepG2	liver:	n/a	chr17:45665190-45665202 chr17:45665317-45665329
3	POLR2A	chr17:45661668-45661793	MCF-7	breast:	n/a	n/a
4	POLR2A	chr17:45663443-45663517	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:45662275-45662298	MCF-7	breast:	n/a	n/a
6	POLR2A	chr17:45664227-45664379	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 142 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58468752	chr17:45661289-45661290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113389337	chr17:45661325-45661326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191882248	chr17:45661335-45661336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551367101	chr17:45661441-45661442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564900500	chr17:45661491-45661492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527997902	chr17:45661500-45661501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111771119	chr17:45661518-45661519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367578972	chr17:45661519-45661520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567931870	chr17:45661534-45661535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112170321	chr17:45661552-45661553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146874360	chr17:45661586-45661587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557048993	chr17:45661592-45661593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536485307	chr17:45661593-45661594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550345525	chr17:45661625-45661626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568869722	chr17:45661633-45661634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111896450	chr17:45661637-45661638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111940151	chr17:45661655-45661656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537911505	chr17:45661660-45661661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111609175	chr17:45661676-45661677	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557810091	chr17:45661684-45661685	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs112147115	chr17:45661696-45661697	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs577743484	chr17:45661765-45661766	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112409200	chr17:45661834-45661835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113025709	chr17:45661861-45661862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181467591	chr17:45661873-45661874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113865409	chr17:45661901-45661902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113781128	chr17:45661930-45661931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534722224	chr17:45661979-45661980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184296326	chr17:45661982-45661983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542462410	chr17:45661983-45661984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562659640	chr17:45662025-45662026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576472476	chr17:45662044-45662045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545069019	chr17:45662048-45662049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565014321	chr17:45662089-45662090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62074009	chr17:45662117-45662118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527712465	chr17:45662149-45662150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112585393	chr17:45662202-45662203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547376891	chr17:45662223-45662224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561472886	chr17:45662225-45662226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530371849	chr17:45662233-45662234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189630522	chr17:45662268-45662269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182103737	chr17:45662313-45662314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186294172	chr17:45662340-45662341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551536607	chr17:45662381-45662382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10445374	chr17:45662383-45662384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs2935169	chr17:45662439-45662440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533820192	chr17:45662468-45662469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191078660	chr17:45662472-45662473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567460467	chr17:45662473-45662474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372499287	chr17:45662484-45662485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Urothelial carcinoma	21177765	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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45670600	Weak transcription	Lung	lung
2	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
3	chr17:45610000-45676800	Weak transcription	Ovary	ovary
4	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
6	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr17:45610600-45662200	Weak transcription	HSMM	muscle
8	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45610800-45669000	Weak transcription	NH-A	brain
11	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
12	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
14	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
15	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
19	chr17:45625000-45668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:45625200-45667200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr17:45629600-45667400	Weak transcription	Left Ventricle	heart
23	chr17:45629800-45673400	Weak transcription	K562	blood
24	chr17:45635400-45670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:45637400-45667200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr17:45637400-45669000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:45637400-45670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:45638000-45667400	Weak transcription	Primary T cells from cord blood	blood
30	chr17:45638000-45667400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:45638200-45667400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:45638800-45669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain
34	chr17:45639800-45676800	Weak transcription	Brain Anterior Caudate	brain
35	chr17:45641000-45678000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr17:45641400-45675000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr17:45644200-45675200	Weak transcription	GM12878-XiMat	blood
38	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
39	chr17:45644600-45673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:45644600-45673600	Weak transcription	Hela-S3	cervix
41	chr17:45645000-45673800	Weak transcription	HMEC	breast
42	chr17:45645600-45678200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:45647800-45662800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:45647800-45662800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr17:45647800-45663000	Weak transcription	Thymus	Thymus
46	chr17:45647800-45663800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:45647800-45667400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:45647800-45667400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr17:45647800-45669200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr17:45647800-45677000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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