Variant report

Variant	esv3440957
Chromosome Location	chr4:91815823-91840336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-7	chr4:91832406-91832508	NONHSAT097412

Extended variants
information (count: 200 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562067734	chr4:91820807-91820808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533286799	chr4:91820812-91820813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183100075	chr4:91820863-91820864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555615785	chr4:91820890-91820891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551475901	chr4:91820917-91820918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376800707	chr4:91820977-91820978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533661992	chr4:91821006-91821007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566930793	chr4:91821014-91821015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546919301	chr4:91821089-91821090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188133891	chr4:91821137-91821138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534132973	chr4:91821157-91821158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144510619	chr4:91821166-91821167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35686734	chr4:91823219-91823220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558883164	chr4:91823240-91823241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540579260	chr4:91823288-91823289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143110391	chr4:91823289-91823290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181606613	chr4:91823403-91823404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145140412	chr4:91823421-91823422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184519424	chr4:91823438-91823439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563048859	chr4:91823530-91823531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114182607	chr4:91823585-91823586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189601415	chr4:91823724-91823725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181859848	chr4:91823725-91823726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533044134	chr4:91823800-91823801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138893104	chr4:91823834-91823835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187263968	chr4:91823853-91823854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528939132	chr4:91823870-91823871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6829825	chr4:91823871-91823872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569062885	chr4:91823874-91823875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1377917	chr4:91823910-91823911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6830366	chr4:91823937-91823938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571134830	chr4:91823951-91823952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115150065	chr4:91823954-91823955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6829855	chr4:91823958-91823959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374457674	chr4:91823971-91823972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374767031	chr4:91823982-91823983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571920267	chr4:91824111-91824112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573657140	chr4:91824134-91824135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371222353	chr4:91824191-91824192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374068584	chr4:91824210-91824211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149396308	chr4:91824211-91824212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545718510	chr4:91824246-91824247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190846500	chr4:91824275-91824276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201325979	chr4:91824295-91824296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11938241	chr4:91824328-91824329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540323519	chr4:91824372-91824373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116404078	chr4:91824377-91824378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180719300	chr4:91824417-91824418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542282490	chr4:91824426-91824427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562535234	chr4:91824433-91824434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	21272361	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91820800-91821200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:91823200-91826000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:91824800-91826000	Enhancers	HUVEC	blood vessel
4	chr4:91824800-91826400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:91825200-91825800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:91825200-91826200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:91825200-91826400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:91825200-91826800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:91825200-91826800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:91825400-91825800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:91825400-91825800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:91825400-91826600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:91825600-91826000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:91826000-91827000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:91826200-91826800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:91826800-91827000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:91832600-91833400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr4:91833000-91833400	ZNF genes & repeats	Fetal Intestine Small	intestine

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