Variant report

Variant	esv3502717
Chromosome Location	chr17:45636053-45640951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112062176	chr17:45636088-45636089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113261221	chr17:45636121-45636122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188485426	chr17:45636140-45636141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111610306	chr17:45636210-45636211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201561104	chr17:45636227-45636228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192879300	chr17:45636261-45636262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199546313	chr17:45636268-45636269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531218724	chr17:45636309-45636310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551240585	chr17:45636328-45636329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571018681	chr17:45636339-45636340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538757326	chr17:45636360-45636361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551960439	chr17:45636373-45636374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565748090	chr17:45636399-45636400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534357019	chr17:45636403-45636404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200447312	chr17:45636414-45636415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554542082	chr17:45636415-45636416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113126884	chr17:45636432-45636433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574439504	chr17:45636475-45636476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536900403	chr17:45636492-45636493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2611974	chr17:45636504-45636505	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556745911	chr17:45636520-45636521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200094776	chr17:45636549-45636550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115317493	chr17:45636564-45636565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2611973	chr17:45636565-45636566	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564029723	chr17:45636587-45636588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546299673	chr17:45636627-45636628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572856000	chr17:45636646-45636647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113963756	chr17:45636697-45636698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373058052	chr17:45636777-45636778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184930733	chr17:45636831-45636832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541897545	chr17:45636834-45636835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562107338	chr17:45636835-45636836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376463874	chr17:45636926-45636927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112571735	chr17:45636977-45636978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531231208	chr17:45637077-45637078	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551264973	chr17:45637083-45637084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2644371	chr17:45637109-45637110	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560180833	chr17:45637110-45637111	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376510192	chr17:45637115-45637116	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371473182	chr17:45637125-45637126	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372840900	chr17:45637195-45637196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547158307	chr17:45637226-45637227	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565679878	chr17:45637232-45637233	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534714388	chr17:45637249-45637250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200523850	chr17:45637263-45637264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547879939	chr17:45637294-45637295	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189435975	chr17:45637307-45637308	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536963853	chr17:45637336-45637337	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111966940	chr17:45637339-45637340	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556807268	chr17:45637349-45637350	Weak transcription Enhancers 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:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45638600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr17:45610000-45639000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr17:45610000-45670600	Weak transcription	Lung	lung
4	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
5	chr17:45610000-45676800	Weak transcription	Ovary	ovary
6	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:45610400-45637600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:45610400-45637800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:45610400-45639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr17:45610400-45647600	Weak transcription	Osteobl	bone
14	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
15	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:45610600-45637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:45610600-45647000	Weak transcription	Dnd41	blood
19	chr17:45610600-45662200	Weak transcription	HSMM	muscle
20	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:45610800-45669000	Weak transcription	NH-A	brain
23	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
25	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
26	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:45617000-45647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:45617000-45647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:45617600-45637200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:45617600-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:45618000-45649200	Weak transcription	Right Ventricle	heart
32	chr17:45618600-45637600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:45618600-45639000	Weak transcription	Brain Anterior Caudate	brain
34	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
35	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
36	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:45621800-45647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr17:45622000-45637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:45622000-45647600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
42	chr17:45622600-45637200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
45	chr17:45624200-45647000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:45625000-45637200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr17:45625000-45637200	Weak transcription	HepG2	liver
48	chr17:45625000-45641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:45625000-45647000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr17:45625000-45647000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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