Variant report

Variant	esv3315282
Chromosome Location	chr17:37480076-37480729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37478446..37480205-chr17:37480429..37483200,2	K562	blood:
2	chr17:37479901..37481702-chr17:37484726..37486933,2	K562	blood:
3	chr17:37478446..37480205-chr17:37480429..37483200,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533152182	chr17:37480094-37480095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190054616	chr17:37480143-37480144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7225911	chr17:37480166-37480167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554592513	chr17:37480175-37480176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185957446	chr17:37480176-37480177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191516256	chr17:37480179-37480180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368520122	chr17:37480185-37480186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371940040	chr17:37480199-37480200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375165143	chr17:37480208-37480209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560346928	chr17:37480227-37480228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376122615	chr17:37480234-37480235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549323334	chr17:37480239-37480240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138382317	chr17:37480261-37480262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61326352	chr17:37480266-37480267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547028148	chr17:37480272-37480273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs8082430	chr17:37480273-37480274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs55938401	chr17:37480276-37480277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11655048	chr17:37480277-37480278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188740353	chr17:37480313-37480314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193263673	chr17:37480320-37480321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182057092	chr17:37480393-37480394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554191799	chr17:37480422-37480423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186735433	chr17:37480464-37480465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536530111	chr17:37480470-37480471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191548758	chr17:37480513-37480514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548367444	chr17:37480550-37480551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573676751	chr17:37480558-37480559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556298708	chr17:37480568-37480569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77014370	chr17:37480573-37480574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78176345	chr17:37480575-37480576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75461954	chr17:37480581-37480582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79601629	chr17:37480584-37480585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79563371	chr17:37480618-37480619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78578998	chr17:37480619-37480620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78317663	chr17:37480645-37480646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374399964	chr17:37480651-37480652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80150606	chr17:37480667-37480668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562527778	chr17:37480724-37480725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
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
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	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
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37436000-37496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:37436800-37497800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr17:37453400-37507800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:37454000-37511600	Weak transcription	Hela-S3	cervix
5	chr17:37455200-37499800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:37455400-37485200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:37455400-37495600	Weak transcription	Right Ventricle	heart
8	chr17:37455600-37484800	Weak transcription	Fetal Kidney	kidney
9	chr17:37455800-37495600	Weak transcription	Brain Germinal Matrix	brain
10	chr17:37456200-37499400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr17:37457600-37497800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:37458000-37495000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:37459400-37491000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:37459400-37495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:37460200-37486800	Weak transcription	Fetal Intestine Large	intestine
16	chr17:37460200-37497600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:37460400-37498400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:37461000-37497400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:37461000-37497600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:37461200-37480600	Weak transcription	Liver	Liver
21	chr17:37461200-37481800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr17:37461200-37485000	Weak transcription	HepG2	liver
23	chr17:37461200-37495200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:37461200-37495400	Weak transcription	Thymus	Thymus
25	chr17:37461200-37515400	Weak transcription	Lung	lung
26	chr17:37461400-37522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:37461800-37485200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:37463800-37482000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:37463800-37485000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr17:37463800-37490800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:37463800-37495000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:37463800-37528200	Weak transcription	HSMMtube	muscle
33	chr17:37464000-37481800	Weak transcription	Primary B cells from cord blood	blood
34	chr17:37467000-37489000	Weak transcription	Fetal Intestine Small	intestine
35	chr17:37472400-37485000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr17:37472400-37497600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:37472600-37481600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:37472800-37487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr17:37472800-37495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:37472800-37497600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr17:37472800-37499400	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:37473000-37481000	Weak transcription	Fetal Thymus	thymus
43	chr17:37473200-37488400	Weak transcription	Primary T cells from cord blood	blood
44	chr17:37473200-37488600	Weak transcription	Fetal Stomach	stomach
45	chr17:37473400-37481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:37478200-37490600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:37478400-37481600	Weak transcription	K562	blood
48	chr17:37479800-37480200	Enhancers	Primary B cells from peripheral blood	blood
49	chr17:37479800-37482000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr17:37479800-37482800	Enhancers	Primary monocytes fromperipheralblood	blood

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