Variant report

Variant	nsv4969
Chromosome Location	chr5:115753919-115767853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115763956..115765472-chr5:115766076..115768967,2	K562	blood:
2	chr5:115763956..115765472-chr5:115766076..115768967,2	K562	blood:
3	chr5:115762949..115765718-chr5:115769908..115771638,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-6	chr5:115763078-115763230	l_3000_chr5:115661715-115668338_thyroid

Extended variants
information (count: 603 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:603 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143544230	chr5:115753926-115753927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550956473	chr5:115753979-115753980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114083775	chr5:115753981-115753982	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543780599	chr5:115754052-115754053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552977856	chr5:115754095-115754096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150995245	chr5:115754119-115754120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75308582	chr5:115754175-115754176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78129843	chr5:115754190-115754191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534532270	chr5:115754232-115754233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs33071	chr5:115754261-115754262	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574391649	chr5:115754278-115754279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140830109	chr5:115754311-115754312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191302804	chr5:115754343-115754344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563284036	chr5:115754362-115754363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576796918	chr5:115754364-115754365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546429836	chr5:115754380-115754381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545861235	chr5:115754381-115754382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559940548	chr5:115754386-115754387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182872459	chr5:115754406-115754407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188795351	chr5:115754429-115754430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562323125	chr5:115754487-115754488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531228970	chr5:115754493-115754494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191541152	chr5:115754528-115754529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573810877	chr5:115754550-115754551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55944619	chr5:115754565-115754566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539480347	chr5:115754582-115754583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528685862	chr5:115754620-115754621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566642389	chr5:115754627-115754628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115169446	chr5:115754698-115754699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147051076	chr5:115754703-115754704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574330232	chr5:115754733-115754734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183554627	chr5:115754742-115754743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557000893	chr5:115754800-115754801	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576744127	chr5:115754818-115754819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545496267	chr5:115754819-115754820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73268942	chr5:115754834-115754835	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187695416	chr5:115754851-115754852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114691856	chr5:115754860-115754861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115150415	chr5:115754895-115754896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138404877	chr5:115754919-115754920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575807335	chr5:115754956-115754957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531165420	chr5:115754987-115754988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191471127	chr5:115754995-115754996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564650187	chr5:115755025-115755026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143804388	chr5:115755044-115755045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146421850	chr5:115755047-115755048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73268944	chr5:115755054-115755055	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529335105	chr5:115755079-115755080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549097768	chr5:115755123-115755124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183669120	chr5:115755143-115755144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:115723000-115776000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:115723600-115784800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:115730400-115769600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:115731000-115757000	Weak transcription	Gastric	stomach
6	chr5:115732600-115760200	Weak transcription	Liver	Liver
7	chr5:115733800-115754400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:115734200-115755200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:115746800-115756600	Strong transcription	Primary T cells from cord blood	blood
10	chr5:115747200-115760000	Weak transcription	Right Ventricle	heart
11	chr5:115747400-115755000	Weak transcription	Right Atrium	heart
12	chr5:115747400-115760800	Weak transcription	Left Ventricle	heart
13	chr5:115747400-115760800	Weak transcription	Pancreas	Pancrea
14	chr5:115747600-115756000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:115747800-115757600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:115747800-115764200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:115747800-115765600	Weak transcription	Lung	lung
18	chr5:115748000-115754800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:115748400-115756000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:115748600-115783000	Weak transcription	Thymus	Thymus
21	chr5:115749400-115782000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:115750200-115779400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:115751200-115758800	Strong transcription	Primary B cells from cord blood	blood
24	chr5:115751600-115756400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:115751600-115757800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:115751600-115774800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:115752000-115757000	Weak transcription	Spleen	Spleen
28	chr5:115752400-115754600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:115752400-115756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:115752800-115779400	Weak transcription	Fetal Intestine Large	intestine
31	chr5:115753600-115754000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:115753600-115754000	Enhancers	Psoas Muscle	Psoas
33	chr5:115753600-115754000	Enhancers	HSMMtube	muscle
34	chr5:115754000-115758400	Weak transcription	Psoas Muscle	Psoas
35	chr5:115754000-115759600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr5:115754600-115755800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr5:115754800-115755000	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:115754800-115755200	Enhancers	Brain Anterior Caudate	brain
39	chr5:115754800-115755400	Enhancers	Fetal Heart	heart
40	chr5:115755000-115755200	Enhancers	Right Atrium	heart
41	chr5:115755000-115757200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:115755200-115755600	Weak transcription	Right Atrium	heart
43	chr5:115755400-115757400	Enhancers	Adipose Nuclei	Adipose
44	chr5:115755600-115757200	Enhancers	Right Atrium	heart
45	chr5:115755600-115757200	Enhancers	K562	blood
46	chr5:115755800-115756600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr5:115756000-115756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:115756000-115756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:115756400-115757400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr5:115756600-115756800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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