Variant report

Variant	esv3352710
Chromosome Location	chr5:52227995-52232293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOCS2-1	chr5:52228306-52228366	ENSG00000249899.1
2	lnc-MOCS2-1	chr5:52228249-52228366	ENSG00000249899.1

Extended variants
information (count: 145 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376344959	chr5:52228004-52228005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373899393	chr5:52228010-52228011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201511615	chr5:52228013-52228014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558231134	chr5:52228022-52228023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10043218	chr5:52228025-52228026	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540816052	chr5:52228036-52228037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111812102	chr5:52228053-52228054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142664191	chr5:52228056-52228057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146903504	chr5:52228101-52228102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116173842	chr5:52228111-52228112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530516975	chr5:52228120-52228121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77592849	chr5:52228169-52228170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139297367	chr5:52228220-52228221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528302097	chr5:52228341-52228342	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs184683233	chr5:52228346-52228347	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs547474457	chr5:52228376-52228377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56711741	chr5:52228379-52228380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10513003	chr5:52228442-52228443	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550845965	chr5:52228489-52228490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569204228	chr5:52228543-52228544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34471898	chr5:52228623-52228624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369230041	chr5:52228683-52228684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370839196	chr5:52228689-52228690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558006640	chr5:52228732-52228733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66556395	chr5:52228769-52228770	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79057401	chr5:52228804-52228805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79635310	chr5:52228805-52228806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534416018	chr5:52228810-52228811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9687460	chr5:52228812-52228813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147079476	chr5:52228872-52228873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189127523	chr5:52228882-52228883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148226392	chr5:52228899-52228900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112162674	chr5:52228951-52228952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367960988	chr5:52228963-52228964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34498543	chr5:52228974-52228975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544619066	chr5:52228991-52228992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574203505	chr5:52228994-52228995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192118086	chr5:52228998-52228999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575158467	chr5:52229006-52229007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141192489	chr5:52229090-52229091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7723398	chr5:52229105-52229106	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184213493	chr5:52229128-52229129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546390135	chr5:52229141-52229142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561591319	chr5:52229179-52229180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529052723	chr5:52229252-52229253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550631059	chr5:52229262-52229263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7728585	chr5:52229277-52229278	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565878991	chr5:52229291-52229292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534988514	chr5:52229381-52229382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200511152	chr5:52229384-52229385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:52202200-52252200	Weak transcription	Small Intestine	intestine
3	chr5:52206400-52240800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:52211400-52239400	Weak transcription	Right Ventricle	heart
5	chr5:52211400-52240200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:52211600-52244400	Weak transcription	HepG2	liver
7	chr5:52212200-52237400	Strong transcription	Liver	Liver
8	chr5:52215200-52228200	Weak transcription	Placenta	Placenta
9	chr5:52218400-52229200	Weak transcription	Pancreas	Pancrea
10	chr5:52218600-52237000	Weak transcription	Psoas Muscle	Psoas
11	chr5:52218600-52239400	Weak transcription	Ovary	ovary
12	chr5:52218600-52242200	Weak transcription	Fetal Kidney	kidney
13	chr5:52218800-52240800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:52219000-52230400	Weak transcription	HSMMtube	muscle
15	chr5:52219200-52235200	Weak transcription	NHDF-Ad	bronchial
16	chr5:52219200-52240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:52219200-52240800	Weak transcription	NHLF	lung
18	chr5:52220000-52243000	Weak transcription	Gastric	stomach
19	chr5:52220400-52239400	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:52220600-52228600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr5:52220600-52232200	Weak transcription	Spleen	Spleen
22	chr5:52220600-52235600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:52220600-52236600	Weak transcription	Lung	lung
24	chr5:52220600-52252000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:52221400-52240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:52221400-52251800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:52222400-52228000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:52222600-52228600	Strong transcription	Adipose Nuclei	Adipose
29	chr5:52223000-52228400	Strong transcription	Fetal Lung	lung
30	chr5:52223800-52231800	Strong transcription	Colon Smooth Muscle	Colon
31	chr5:52224000-52235200	Weak transcription	Fetal Intestine Large	intestine
32	chr5:52224000-52236800	Weak transcription	Aorta	Aorta
33	chr5:52224000-52239400	Weak transcription	Fetal Stomach	stomach
34	chr5:52224200-52244600	Weak transcription	Primary T cells from cord blood	blood
35	chr5:52225200-52232200	Weak transcription	Left Ventricle	heart
36	chr5:52225200-52239800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:52225400-52228000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:52226000-52229600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:52226200-52228600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:52227000-52240800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:52227400-52228400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:52227800-52228400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr5:52227800-52228600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:52227800-52229200	Strong transcription	Dnd41	blood
45	chr5:52228000-52228600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:52228000-52229200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:52228200-52228600	Strong transcription	Placenta	Placenta
48	chr5:52228200-52229000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr5:52228400-52232200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:52228400-52235200	Weak transcription	Fetal Lung	lung

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