Variant report

Variant	esv17214
Chromosome Location	chr4:90562958-90563578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-2	chr4:90563568-90563671	ENSG00000251095.1
2	lnc-MMRN1-2	chr4:90563568-90563671	ENSG00000251095.1

Extended variants
information (count: 29 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192855050	chr4:90562984-90562985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544737571	chr4:90563031-90563032	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560096069	chr4:90563054-90563055	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577757979	chr4:90563057-90563058	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527262438	chr4:90563108-90563109	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547329750	chr4:90563109-90563110	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80306518	chr4:90563157-90563158	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537563560	chr4:90563165-90563166	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529588956	chr4:90563206-90563207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557227150	chr4:90563209-90563210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574198493	chr4:90563267-90563268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369653490	chr4:90563276-90563277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116261917	chr4:90563290-90563291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533478566	chr4:90563306-90563307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542920622	chr4:90563312-90563313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185761846	chr4:90563348-90563349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560126032	chr4:90563394-90563395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17015961	chr4:90563398-90563399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571207924	chr4:90563427-90563428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113759979	chr4:90563445-90563446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190246679	chr4:90563450-90563451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564078581	chr4:90563456-90563457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566464580	chr4:90563457-90563458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537737191	chr4:90563481-90563482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555948532	chr4:90563498-90563499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150474521	chr4:90563521-90563522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545109454	chr4:90563534-90563535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553549477	chr4:90563564-90563565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17015966	chr4:90563568-90563569	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90562600-90563000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:90562600-90566200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:90562800-90563000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:90562800-90563000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:90562800-90563200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:90562800-90563200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:90562800-90566000	Weak transcription	HepG2	liver
8	chr4:90563000-90563200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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