Variant report

Variant	nsv946495
Chromosome Location	chr1:168646258-168647441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539738415	chr1:168646268-168646269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558066545	chr1:168646275-168646276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181658351	chr1:168646277-168646278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116833886	chr1:168646280-168646281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185720245	chr1:168646302-168646303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71557638	chr1:168646330-168646331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574038119	chr1:168646334-168646335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544384029	chr1:168646336-168646337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563488296	chr1:168646341-168646342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575382900	chr1:168646384-168646385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368223204	chr1:168646407-168646408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367858817	chr1:168646431-168646432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190526500	chr1:168646483-168646484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564343801	chr1:168646554-168646555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12085048	chr1:168646584-168646585	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183066374	chr1:168646628-168646629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144854399	chr1:168646665-168646666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544139026	chr1:168646668-168646669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74349971	chr1:168646692-168646693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550446952	chr1:168646703-168646704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187933155	chr1:168646737-168646738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35985727	chr1:168646761-168646762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371307354	chr1:168646767-168646768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147510274	chr1:168646804-168646805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190741658	chr1:168646817-168646818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148596331	chr1:168647053-168647054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555687743	chr1:168647087-168647088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11808391	chr1:168647094-168647095	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142980127	chr1:168647127-168647128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556411290	chr1:168647215-168647216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533161803	chr1:168647229-168647230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374237896	chr1:168647250-168647251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182987033	chr1:168647292-168647293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552753052	chr1:168647317-168647318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545985201	chr1:168647334-168647335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56265357	chr1:168647367-168647368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542669682	chr1:168647394-168647395	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168642000-168647200	Weak transcription	Brain Angular Gyrus	brain
2	chr1:168643600-168646800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:168644800-168647400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:168646000-168646400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:168646000-168646400	Weak transcription	Brain Substantia Nigra	brain
6	chr1:168646400-168647200	Enhancers	Brain Substantia Nigra	brain
7	chr1:168646800-168647000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:168647200-168647400	Enhancers	Brain Angular Gyrus	brain

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