Variant report

Variant	nsv1016480
Chromosome Location	chr5:152261713-152313172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMUR2-1	chr5:152264987-152265188	XLOC_005056

Extended variants
information (count: 556 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191571019	chr5:152261756-152261757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527756200	chr5:152261764-152261765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544939294	chr5:152261773-152261774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142055312	chr5:152261792-152261793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112304815	chr5:152261863-152261864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80350780	chr5:152261926-152261927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181702129	chr5:152261933-152261934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199742243	chr5:152261952-152261953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557328316	chr5:152261979-152261980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75983152	chr5:152261980-152261981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376015284	chr5:152262033-152262034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151132739	chr5:152262127-152262128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139098873	chr5:152262136-152262137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187166418	chr5:152262142-152262143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191806344	chr5:152262171-152262172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557463678	chr5:152262205-152262206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183406410	chr5:152262222-152262223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186661397	chr5:152262355-152262356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556348740	chr5:152262398-152262399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144027581	chr5:152262408-152262409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542533260	chr5:152262427-152262428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35433876	chr5:152262446-152262447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60620453	chr5:152262480-152262481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs80258307	chr5:152262484-152262485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189935883	chr5:152262500-152262501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564620251	chr5:152262502-152262503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146458553	chr5:152262542-152262543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543599256	chr5:152262543-152262544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182419745	chr5:152262571-152262572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376623377	chr5:152262636-152262637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561397930	chr5:152262670-152262671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369941672	chr5:152262718-152262719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547683991	chr5:152262733-152262734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528613560	chr5:152262751-152262752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79460323	chr5:152262766-152262767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546995895	chr5:152262769-152262770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140995592	chr5:152262854-152262855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35729824	chr5:152262861-152262862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551057877	chr5:152262889-152262890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569452576	chr5:152262898-152262899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536752803	chr5:152262905-152262906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145623796	chr5:152262909-152262910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76373017	chr5:152262942-152262943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148914071	chr5:152262962-152262963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554478897	chr5:152263009-152263010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572348078	chr5:152263018-152263019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187124091	chr5:152263039-152263040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193003793	chr5:152263063-152263064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576555765	chr5:152263073-152263074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577262131	chr5:152263086-152263087	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152261400-152262800	Enhancers	Fetal Brain Male	brain
2	chr5:152262000-152263200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:152262200-152264800	Enhancers	Brain Germinal Matrix	brain
4	chr5:152262400-152263200	Enhancers	Fetal Brain Female	brain
5	chr5:152279800-152280200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:152279800-152280600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:152279800-152280800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:152280000-152280600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:152280000-152280800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:152281200-152282200	Enhancers	Liver	Liver
11	chr5:152282200-152287000	Weak transcription	Liver	Liver
12	chr5:152287000-152287400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:152287000-152287600	Active TSS	Liver	Liver
14	chr5:152287400-152287600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:152287600-152287800	Flanking Active TSS	Liver	Liver
16	chr5:152287800-152288000	Enhancers	Liver	Liver
17	chr5:152289600-152289800	Enhancers	Liver	Liver
18	chr5:152304600-152306000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:152305600-152305800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:152306400-152306800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:152307600-152308000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:152308000-152309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:152309400-152310000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:152312400-152313000	Enhancers	Cortex derived primary cultured neurospheres	brain

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