Variant report

Variant	nsv599299
Chromosome Location	chr5:106149393-106229059
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:9)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:105577079..105577846-chr5:106153949..106154767,2	MCF-7	breast:
2	chr5:106220156..106222310-chr5:106223090..106225336,2	K562	blood:
3	chr5:106185229..106189035-chr5:106199699..106201875,3	MCF-7	breast:
4	chr17:56709318..56712109-chr5:106181952..106184880,2	MCF-7	breast:
5	chr5:106220156..106222310-chr5:106223090..106225336,2	K562	blood:
6	chr5:106210052..106213021-chr5:107006073..107010056,3	MCF-7	breast:
7	chr5:105577079..105577587-chr5:106153989..106154803,2	MCF-7	breast:
8	chr5:106186315..106188102-chr5:107007477..107009162,2	MCF-7	breast:
9	chr5:106185229..106189035-chr5:106199699..106201875,3	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-EFNA5-2	chr5:106150906-106151247	XLOC_004951
3	lnc-EFNA5-2	chr5:106150903-106151247	XLOC_004951
4	lnc-EFNA5-2	chr5:106154100-106154178	XLOC_004951
5	lnc-EFNA5-7	chr5:106181999-106182077	l_2991_chr5:106178796-106374642_testes
6	lnc-EFNA5-7	chr5:106178797-106179146	l_2991_chr5:106178796-106374642_testes

No data

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

Extended variants
information (count: 1801 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1801 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376897052	chr5:106150413-106150414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146816640	chr5:106150452-106150453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17159112	chr5:106150503-106150504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143667838	chr5:106150552-106150553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148267372	chr5:106150627-106150628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577469352	chr5:106150737-106150738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551455653	chr5:106150753-106150754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546434643	chr5:106150770-106150771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74458780	chr5:106150810-106150811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575983513	chr5:106150814-106150815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140411850	chr5:106150841-106150842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561750046	chr5:106150864-106150865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187965657	chr5:106150872-106150873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541247704	chr5:106150889-106150890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372687593	chr5:106150903-106150904	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564227435	chr5:106150914-106150915	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs533086871	chr5:106150924-106150925	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs374019302	chr5:106151062-106151063	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs180864859	chr5:106151072-106151073	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs185322788	chr5:106151073-106151074	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs146981636	chr5:106151102-106151103	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs74888591	chr5:106151104-106151105	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs569202765	chr5:106151130-106151131	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs201276937	chr5:106151167-106151168	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs114935758	chr5:106151169-106151170	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs138158383	chr5:106151175-106151176	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs61246724	chr5:106151176-106151177	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs557127457	chr5:106151190-106151191	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs191501242	chr5:106151305-106151306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533258200	chr5:106151331-106151332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569873614	chr5:106151332-106151333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553953569	chr5:106151339-106151340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529229564	chr5:106151340-106151341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571013774	chr5:106151447-106151448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143634673	chr5:106151457-106151458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34227619	chr5:106151494-106151495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114553818	chr5:106151528-106151529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575987815	chr5:106151574-106151575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386690822	chr5:106151581-106151582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115764161	chr5:106151582-106151583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138473863	chr5:106151598-106151599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149236910	chr5:106151600-106151601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73202334	chr5:106151601-106151602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533147364	chr5:106151602-106151603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144456066	chr5:106151667-106151668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77022604	chr5:106151708-106151709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563585975	chr5:106151722-106151723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113771981	chr5:106151753-106151754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183557863	chr5:106151765-106151766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377459413	chr5:106151781-106151782	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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	22037309	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106150400-106151000	Enhancers	Brain Germinal Matrix	brain
2	chr5:106150400-106151200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:106151000-106151400	Weak transcription	Brain Germinal Matrix	brain
4	chr5:106151000-106152000	Enhancers	Dnd41	blood
5	chr5:106151400-106152800	Enhancers	Brain Germinal Matrix	brain
6	chr5:106153400-106153800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:106154200-106154400	Enhancers	Aorta	Aorta
8	chr5:106154600-106154800	ZNF genes & repeats	Aorta	Aorta
9	chr5:106157600-106157800	Enhancers	A549	lung
10	chr5:106157800-106158400	Weak transcription	A549	lung
11	chr5:106158400-106159000	Enhancers	A549	lung
12	chr5:106158600-106158800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:106159000-106160600	Weak transcription	A549	lung
14	chr5:106159800-106161000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:106160600-106160800	Enhancers	A549	lung
16	chr5:106160600-106162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:106160600-106163200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:106160800-106161200	Weak transcription	A549	lung
19	chr5:106160800-106161400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:106160800-106161600	Enhancers	NHDF-Ad	bronchial
21	chr5:106161000-106161600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:106161200-106161600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:106161200-106161600	Enhancers	A549	lung
24	chr5:106161400-106162400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:106161600-106163400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:106162600-106162800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:106167200-106167400	Enhancers	Aorta	Aorta
28	chr5:106167200-106167800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:106167200-106168000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:106167400-106167600	Weak transcription	Aorta	Aorta
31	chr5:106167800-106168800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr5:106168800-106169000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:106168800-106169600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:106169000-106169400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:106169000-106169600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr5:106169200-106169600	Enhancers	Primary hematopoietic stem cells	blood
37	chr5:106169200-106169800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:106169600-106169800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr5:106169800-106170000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr5:106179600-106180200	Enhancers	Stomach Mucosa	stomach
41	chr5:106179800-106180000	Enhancers	Aorta	Aorta
42	chr5:106179800-106180000	Enhancers	Hela-S3	cervix
43	chr5:106179800-106180200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:106184200-106184800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr5:106184800-106185000	Enhancers	A549	lung
46	chr5:106184800-106185800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr5:106185000-106185400	Enhancers	Stomach Mucosa	stomach
48	chr5:106185000-106185600	Flanking Active TSS	A549	lung
49	chr5:106185000-106188200	Enhancers	Fetal Intestine Large	intestine
50	chr5:106185200-106185400	Enhancers	Liver	Liver

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