Variant report

Variant	esv2505993
Chromosome Location	chr4:187213139-187215217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTNR1A-7	chr4:187213811-187213851	NONHSAT099654
2	lnc-F11-5	chr4:187214706-187215141	NONHSAT099655
3	lnc-F11-5	chr4:187213973-187214061	NONHSAT099655
4	lnc-MTNR1A-7	chr4:187213263-187213678	NONHSAT099654

Extended variants
information (count: 126 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74880016	chr4:187213199-187213200	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139201003	chr4:187213216-187213217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557128840	chr4:187213229-187213230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188795966	chr4:187213264-187213265	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs374275564	chr4:187213265-187213266	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs536210015	chr4:187213270-187213271	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs555274160	chr4:187213293-187213294	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs12502630	chr4:187213296-187213297	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116484824	chr4:187213313-187213314	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs76219688	chr4:187213320-187213321	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs6818689	chr4:187213341-187213342	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72712610	chr4:187213360-187213361	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11132386	chr4:187213366-187213367	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs13132490	chr4:187213368-187213369	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186263327	chr4:187213397-187213398	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs369030217	chr4:187213433-187213434	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs560136434	chr4:187213468-187213469	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs73013309	chr4:187213477-187213478	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs189120626	chr4:187213531-187213532	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs372669072	chr4:187213532-187213533	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs376157242	chr4:187213565-187213566	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs144019498	chr4:187213566-187213567	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs530984109	chr4:187213571-187213572	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs551446412	chr4:187213577-187213578	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs377423283	chr4:187213602-187213603	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs566640019	chr4:187213615-187213616	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs113395310	chr4:187213621-187213622	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs181919264	chr4:187213627-187213628	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs567404756	chr4:187213640-187213641	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs536273071	chr4:187213661-187213662	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs11940902	chr4:187213664-187213665	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565676292	chr4:187213676-187213677	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs146378982	chr4:187213707-187213708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187501315	chr4:187213709-187213710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558042984	chr4:187213713-187213714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577785791	chr4:187213736-187213737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139672560	chr4:187213743-187213744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372585187	chr4:187213749-187213750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557122501	chr4:187213752-187213753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529286648	chr4:187213766-187213767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190639420	chr4:187213798-187213799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559399567	chr4:187213815-187213816	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs182976991	chr4:187213850-187213851	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs541376132	chr4:187213859-187213860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4444878	chr4:187213883-187213884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6824705	chr4:187213889-187213890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13138242	chr4:187213950-187213951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13138256	chr4:187213970-187213971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531167903	chr4:187214012-187214013	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs76828452	chr4:187214040-187214041	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187205800-187217400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:187209800-187217600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:187212600-187219000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:187212800-187214000	Weak transcription	Pancreas	Pancrea
5	chr4:187213000-187213200	Flanking Active TSS	Liver	Liver
6	chr4:187213000-187213200	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr4:187213200-187213600	Enhancers	Liver	Liver
8	chr4:187213600-187217600	Weak transcription	Liver	Liver

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