Variant report

Variant	nsv962312
Chromosome Location	chr17:33767638-33769198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146669399	chr17:33767639-33767640	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556427786	chr17:33767667-33767668	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116487923	chr17:33767677-33767678	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140062622	chr17:33767692-33767693	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555505924	chr17:33767693-33767694	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs150489784	chr17:33767696-33767697	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375056334	chr17:33767729-33767730	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371744448	chr17:33767745-33767746	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186998726	chr17:33767783-33767784	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376409901	chr17:33767801-33767802	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs115306180	chr17:33767838-33767839	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs115555886	chr17:33767844-33767845	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369680515	chr17:33767859-33767860	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115182021	chr17:33767871-33767872	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374453179	chr17:33767894-33767895	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369932734	chr17:33767897-33767898	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372271389	chr17:33767923-33767924	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs138317636	chr17:33767943-33767944	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376617129	chr17:33767950-33767951	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200009593	chr17:33768035-33768036	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528985270	chr17:33768053-33768054	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183591689	chr17:33768080-33768081	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529408632	chr17:33768086-33768087	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs114737688	chr17:33768087-33768088	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146777094	chr17:33768093-33768094	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs9896086	chr17:33768094-33768095	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370000011	chr17:33768128-33768129	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs35203474	chr17:33768162-33768163	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs1822403	chr17:33768199-33768200	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs571498810	chr17:33768251-33768252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116756555	chr17:33768258-33768259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147476419	chr17:33768264-33768265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9896552	chr17:33768284-33768285	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141832654	chr17:33768303-33768304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150808922	chr17:33768304-33768305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377450905	chr17:33768312-33768313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139197818	chr17:33768330-33768331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75812929	chr17:33768334-33768335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3744371	chr17:33768354-33768355	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs191787340	chr17:33768356-33768357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116180460	chr17:33768357-33768358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558193921	chr17:33768365-33768366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139899726	chr17:33768368-33768369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115704442	chr17:33768369-33768370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563252370	chr17:33768373-33768374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115402160	chr17:33768381-33768382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11657183	chr17:33768383-33768384	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542621430	chr17:33768388-33768389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34467641	chr17:33768404-33768405	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368533950	chr17:33768421-33768422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	17603634	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
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Cervical cancer	21062161	CNVD
Colorectal cancer	22860045	CNVD
Ductal carcinoma	18381933	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Renal cysts	20603712	CNVD
Epilepsy	21858020	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Autism	20587423	CNVD
Renal cysts	20587423	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Mayer-Rokitansky-Kuster-Hauser syndrome	19889212	CNVD
Endometrial cancer	23636398	CNVD
Urothelial cell carcinoma	18451213	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
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33760600-33774400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:33761000-33773400	Weak transcription	Primary T cells from cord blood	blood
3	chr17:33761000-33774200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:33761000-33774400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:33761000-33774400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:33761000-33774400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:33761000-33775200	Weak transcription	Spleen	Spleen
8	chr17:33761200-33767800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr17:33761200-33767800	Weak transcription	GM12878-XiMat	blood
10	chr17:33761200-33771000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr17:33761200-33774000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:33761200-33774400	Weak transcription	Primary B cells from cord blood	blood
13	chr17:33761200-33774400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:33761200-33774400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:33761200-33774400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:33761200-33774400	Weak transcription	Fetal Thymus	thymus
17	chr17:33761200-33774400	Weak transcription	HMEC	breast
18	chr17:33761200-33774600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr17:33761400-33770600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr17:33761400-33770600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:33761400-33771000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:33761400-33775200	Weak transcription	Lung	lung
23	chr17:33761800-33770400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr17:33762000-33774800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:33762600-33767800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:33763200-33774400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:33763400-33772200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr17:33763800-33773800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr17:33764600-33771800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr17:33765200-33775000	Weak transcription	Esophagus	oesophagus
31	chr17:33766000-33772600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:33766400-33768000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr17:33766400-33771600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:33767200-33769400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:33767400-33773200	Strong transcription	Dnd41	blood
36	chr17:33767600-33768200	Active TSS	Brain Substantia Nigra	brain
37	chr17:33767600-33768400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:33767800-33768200	Strong transcription	GM12878-XiMat	blood
39	chr17:33767800-33768400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr17:33767800-33768600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:33768000-33768200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr17:33768200-33768400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr17:33768200-33769200	Weak transcription	GM12878-XiMat	blood
44	chr17:33768200-33775200	Weak transcription	Gastric	stomach
45	chr17:33768400-33774400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:33768400-33774600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr17:33768600-33773600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:33769000-33769200	Enhancers	H9 Cell Line	embryonic stem cell

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