Variant report

Variant	nsv462376
Chromosome Location	chr5:106129495-106215439
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:10)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:105577079..105577846-chr5:106153949..106154767,2	MCF-7	breast:
2	chr5:106185229..106189035-chr5:106199699..106201875,3	MCF-7	breast:
3	chr5:106131520..106133910-chr5:106135475..106137782,2	MCF-7	breast:
4	chr5:106210052..106213021-chr5:107006073..107010056,3	MCF-7	breast:
5	chr5:106113493..106115491-chr5:106132534..106134120,2	MCF-7	breast:
6	chr5:106185229..106189035-chr5:106199699..106201875,3	MCF-7	breast:
7	chr17:56709318..56712109-chr5:106181952..106184880,2	MCF-7	breast:
8	chr5:105577079..105577587-chr5:106153989..106154803,2	MCF-7	breast:
9	chr5:106186315..106188102-chr5:107007477..107009162,2	MCF-7	breast:
10	chr5:106131520..106133910-chr5:106135475..106137782,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFNA5-2	chr5:106179762-106179915	XLOC_004951
2	lnc-EFNA5-7	chr5:106178797-106179146	l_2991_chr5:106178796-106374642_testes
3	lnc-EFNA5-2	chr5:106150906-106151247	XLOC_004951
4	lnc-EFNA5-2	chr5:106150903-106151247	XLOC_004951
5	lnc-EFNA5-2	chr5:106154100-106154178	XLOC_004951
6	lnc-EFNA5-7	chr5:106181999-106182077	l_2991_chr5:106178796-106374642_testes

No data

Variant related genes	Relation type
ENSG00000184349	chromatin interactions
BCL2L11	miRNA target sites

Extended variants
information (count: 1749 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1749 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141502450	chr5:106131806-106131807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534920087	chr5:106131848-106131849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539702272	chr5:106131868-106131869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146637341	chr5:106131884-106131885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193127791	chr5:106131893-106131894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74522098	chr5:106131900-106131901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73200401	chr5:106132005-106132006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574034747	chr5:106132011-106132012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182237110	chr5:106132029-106132030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147515794	chr5:106132066-106132067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs965449	chr5:106132080-106132081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576116444	chr5:106132095-106132096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186940350	chr5:106132104-106132105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541889748	chr5:106132106-106132107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555559846	chr5:106132145-106132146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563276258	chr5:106133209-106133210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34562255	chr5:106133211-106133212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573639791	chr5:106133226-106133227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542786085	chr5:106133298-106133299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144106843	chr5:106133305-106133306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17442724	chr5:106133308-106133309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148696953	chr5:106133333-106133334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565058814	chr5:106133409-106133410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77708170	chr5:106133450-106133451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530738944	chr5:106133461-106133462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113915781	chr5:106133514-106133515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569721938	chr5:106133531-106133532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535445883	chr5:106133536-106133537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140284981	chr5:106133563-106133564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144067517	chr5:106133597-106133598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111445365	chr5:106133604-106133605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140661680	chr5:106133629-106133630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150091332	chr5:106133697-106133698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138928858	chr5:106133700-106133701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537750447	chr5:106133714-106133715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371772381	chr5:106133716-106133717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557679247	chr5:106133758-106133759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573727674	chr5:106133779-106133780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75782000	chr5:106133800-106133801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs386404643	chr5:106133802-106133803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386404644	chr5:106133807-106133808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386358335	chr5:106133808-106133809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141886102	chr5:106133849-106133850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559436409	chr5:106133864-106133865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201667819	chr5:106133865-106133866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552043026	chr5:106133891-106133892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545062851	chr5:106133896-106133897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147084172	chr5:106133903-106133904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530576262	chr5:106134025-106134026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138504278	chr5:106134051-106134052	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106131800-106132200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:106131800-106132200	Enhancers	Fetal Lung	lung
3	chr5:106133200-106134200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:106133400-106133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:106133400-106134200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:106133400-106134200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:106133400-106134200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:106134200-106134400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:106134200-106135800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:106134200-106136200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:106135000-106135200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:106135200-106135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:106135800-106136400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:106135800-106137800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:106136200-106136400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:106136200-106137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:106136400-106137800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:106136600-106138200	Enhancers	Dnd41	blood
19	chr5:106136800-106137400	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:106137000-106137200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:106137200-106137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:106137400-106137600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:106137400-106137800	Enhancers	Primary T cells from cord blood	blood
24	chr5:106137600-106138200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:106144800-106145400	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:106144800-106145400	Enhancers	Brain Hippocampus Middle	brain
27	chr5:106145000-106145400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:106145000-106145400	Enhancers	Brain Substantia Nigra	brain
29	chr5:106145000-106145800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:106145400-106145800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:106145800-106146200	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:106150400-106151000	Enhancers	Brain Germinal Matrix	brain
33	chr5:106150400-106151200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:106151000-106151400	Weak transcription	Brain Germinal Matrix	brain
35	chr5:106151000-106152000	Enhancers	Dnd41	blood
36	chr5:106151400-106152800	Enhancers	Brain Germinal Matrix	brain
37	chr5:106153400-106153800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:106154200-106154400	Enhancers	Aorta	Aorta
39	chr5:106154600-106154800	ZNF genes & repeats	Aorta	Aorta
40	chr5:106157600-106157800	Enhancers	A549	lung
41	chr5:106157800-106158400	Weak transcription	A549	lung
42	chr5:106158400-106159000	Enhancers	A549	lung
43	chr5:106158600-106158800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:106159000-106160600	Weak transcription	A549	lung
45	chr5:106159800-106161000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:106160600-106160800	Enhancers	A549	lung
47	chr5:106160600-106162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:106160600-106163200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr5:106160800-106161200	Weak transcription	A549	lung
50	chr5:106160800-106161400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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