Variant report

Variant	nsv880377
Chromosome Location	chr5:52967967-53028303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:53010083..53010835-chr5:53021599..53022271,2	MCF-7	breast:
2	chr5:52964952..52966941-chr5:52970691..52973643,2	K562	blood:
3	chr5:53010083..53010835-chr5:53021599..53022271,2	MCF-7	breast:
4	chr5:52943856..52946285-chr5:52969298..52971904,2	K562	blood:
5	chr5:52987183..52989116-chr5:52991763..52994234,2	K562	blood:
6	chr5:52773786..52776884-chr5:53020052..53023482,4	MCF-7	breast:
7	chr5:52772745..52773247-chr5:53021978..53022710,2	MCF-7	breast:
8	chr5:52987183..52989116-chr5:52991763..52994234,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FST-1	chr5:52967196-52968051	ENSG00000248194

No data

Variant related genes	Relation type
ENSG00000134363	chromatin interactions
CDKN1B	miRNA target sites

Extended variants
information (count: 1495 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1495 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs31308	chr5:52967967-52967968	Enhancers Weak transcription Flanking Active TSS Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567946846	chr5:52967971-52967972	Enhancers Weak transcription Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs144369738	chr5:52968043-52968044	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs556789574	chr5:52968049-52968050	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs190504703	chr5:52968069-52968070	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372858239	chr5:52968079-52968080	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545591405	chr5:52968108-52968109	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557531750	chr5:52968226-52968227	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74640840	chr5:52968263-52968264	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539826114	chr5:52968271-52968272	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561381892	chr5:52968282-52968283	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529141616	chr5:52968320-52968321	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544055332	chr5:52968343-52968344	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147824527	chr5:52968365-52968366	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532948850	chr5:52968383-52968384	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376586099	chr5:52968386-52968387	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200593647	chr5:52968436-52968437	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397997732	chr5:52968445-52968446	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566829073	chr5:52968454-52968455	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527818802	chr5:52968515-52968516	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180821884	chr5:52968529-52968530	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567707988	chr5:52968530-52968531	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528497918	chr5:52968546-52968547	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538248677	chr5:52968548-52968549	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57401636	chr5:52968571-52968572	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369414440	chr5:52968685-52968686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185222747	chr5:52968703-52968704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141407498	chr5:52968707-52968708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538830179	chr5:52968761-52968762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147013564	chr5:52968887-52968888	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80312541	chr5:52968934-52968935	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533929405	chr5:52968964-52968965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115845209	chr5:52969133-52969134	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556740441	chr5:52969169-52969170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543819941	chr5:52969173-52969174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369542271	chr5:52969174-52969175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73121132	chr5:52969187-52969188	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148068717	chr5:52969200-52969201	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28541946	chr5:52969207-52969208	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560333168	chr5:52969218-52969219	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569854169	chr5:52969272-52969273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571414495	chr5:52969332-52969333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527778567	chr5:52969355-52969356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549449533	chr5:52969388-52969389	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561379173	chr5:52969405-52969406	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73754284	chr5:52969433-52969434	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140683906	chr5:52969468-52969469	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150100202	chr5:52969483-52969484	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538747651	chr5:52969487-52969488	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539355098	chr5:52969489-52969490	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52920800-52978800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:52929000-52981800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:52935200-52978000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:52938200-52970200	Weak transcription	NH-A	brain
5	chr5:52938600-52971000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:52940000-52982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:52941400-52980200	Weak transcription	HepG2	liver
8	chr5:52941400-52985200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:52942400-52973400	Weak transcription	Fetal Heart	heart
10	chr5:52944000-52969800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:52944200-52968200	Weak transcription	K562	blood
12	chr5:52945400-52974600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:52945400-52979000	Weak transcription	HMEC	breast
14	chr5:52945400-52980200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:52945400-52980800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:52945400-52981000	Weak transcription	Psoas Muscle	Psoas
17	chr5:52945400-52985000	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:52945600-52971600	Weak transcription	Fetal Lung	lung
19	chr5:52945600-52978400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:52945600-52980800	Weak transcription	GM12878-XiMat	blood
21	chr5:52945600-52981600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:52945600-52983000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:52945600-52983600	Weak transcription	Fetal Thymus	thymus
24	chr5:52946800-52981400	Weak transcription	NHEK	skin
25	chr5:52955800-52982200	Weak transcription	Dnd41	blood
26	chr5:52956000-52982600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:52961200-52974800	Weak transcription	HSMMtube	muscle
28	chr5:52961400-52970200	Weak transcription	Placenta	Placenta
29	chr5:52961600-52975000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:52961600-52978800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:52961600-52984200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:52961800-52968800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:52961800-52978200	Weak transcription	Left Ventricle	heart
34	chr5:52961800-52978800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:52961800-52979800	Weak transcription	Aorta	Aorta
36	chr5:52961800-52979800	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:52961800-52989200	Weak transcription	Ovary	ovary
38	chr5:52962200-52978200	Weak transcription	Liver	Liver
39	chr5:52962400-52971600	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:52962400-52979000	Weak transcription	NHDF-Ad	bronchial
41	chr5:52962400-52979800	Weak transcription	Pancreas	Pancrea
42	chr5:52962600-52969200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:52962600-52974000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:52962600-52975000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:52962600-52975400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:52962600-52978400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:52962600-52980600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:52963000-52975600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:52963000-52978600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:52963600-52984400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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