Variant report

Variant	nsv599301
Chromosome Location	chr5:106162197-106293263
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:3)
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	chr5:105577057..105577825-chr5:106276409..106277049,3	MCF-7	breast:
2	chr5:106210052..106213021-chr5:107006073..107010056,3	MCF-7	breast:
3	chr17:56709318..56712109-chr5:106181952..106184880,2	MCF-7	breast:
4	chr5:105577109..105578026-chr5:106276409..106277185,3	MCF-7	breast:
5	chr5:106220156..106222310-chr5:106223090..106225336,2	K562	blood:
6	chr5:106186315..106188102-chr5:107007477..107009162,2	MCF-7	breast:
7	chr5:106220156..106222310-chr5:106223090..106225336,2	K562	blood:
8	chr5:106185229..106189035-chr5:106199699..106201875,3	MCF-7	breast:
9	chr5:106185229..106189035-chr5:106199699..106201875,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFNA5-7	chr5:106178797-106179146	l_2991_chr5:106178796-106374642_testes
2	lnc-EFNA5-7	chr5:106181999-106182077	l_2991_chr5:106178796-106374642_testes
3	lnc-EFNA5-2	chr5:106179762-106179915	XLOC_004951

No data

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

Extended variants
information (count: 3046 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3046 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1821883	chr5:106162197-106162198	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532320460	chr5:106162198-106162199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552368407	chr5:106162227-106162228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371394712	chr5:106162229-106162230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569198765	chr5:106162231-106162232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192602552	chr5:106162235-106162236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376142351	chr5:106162286-106162287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112872081	chr5:106162312-106162313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184443652	chr5:106162321-106162322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536395578	chr5:106162340-106162341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144599312	chr5:106162407-106162408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566813093	chr5:106162410-106162411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115479616	chr5:106162422-106162423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558699385	chr5:106162443-106162444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144416503	chr5:106162448-106162449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188599033	chr5:106162458-106162459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542203798	chr5:106162460-106162461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554171732	chr5:106162463-106162464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147466904	chr5:106162490-106162491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs296216	chr5:106162513-106162514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191896571	chr5:106162517-106162518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73202347	chr5:106162557-106162558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371266010	chr5:106162563-106162564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs389647	chr5:106162591-106162592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs439610	chr5:106162597-106162598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186119	chr5:106162603-106162604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184515161	chr5:106162604-106162605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374599392	chr5:106162638-106162639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546040268	chr5:106162640-106162641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs403466	chr5:106162644-106162645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372314111	chr5:106162661-106162662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377292332	chr5:106162685-106162686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368552710	chr5:106162688-106162689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371858735	chr5:106162696-106162697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs211950	chr5:106162717-106162718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562636364	chr5:106162734-106162735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140602430	chr5:106162736-106162737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369676013	chr5:106162737-106162738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34600646	chr5:106162818-106162819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564517272	chr5:106162823-106162824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs809595	chr5:106162904-106162905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114067385	chr5:106162910-106162911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142245982	chr5:106162953-106162954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188878111	chr5:106162980-106162981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554146983	chr5:106162996-106162997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181745445	chr5:106163026-106163027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536399248	chr5:106163028-106163029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7732272	chr5:106163044-106163045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552388478	chr5:106163051-106163052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116426966	chr5:106163052-106163053	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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106160600-106162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:106160600-106163200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:106161400-106162400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:106161600-106163400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:106162600-106162800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:106167200-106167400	Enhancers	Aorta	Aorta
7	chr5:106167200-106167800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:106167200-106168000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:106167400-106167600	Weak transcription	Aorta	Aorta
10	chr5:106167800-106168800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:106168800-106169000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:106168800-106169600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:106169000-106169400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:106169000-106169600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:106169200-106169600	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:106169200-106169800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:106169600-106169800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr5:106169800-106170000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:106179600-106180200	Enhancers	Stomach Mucosa	stomach
20	chr5:106179800-106180000	Enhancers	Aorta	Aorta
21	chr5:106179800-106180000	Enhancers	Hela-S3	cervix
22	chr5:106179800-106180200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:106184200-106184800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:106184800-106185000	Enhancers	A549	lung
25	chr5:106184800-106185800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr5:106185000-106185400	Enhancers	Stomach Mucosa	stomach
27	chr5:106185000-106185600	Flanking Active TSS	A549	lung
28	chr5:106185000-106188200	Enhancers	Fetal Intestine Large	intestine
29	chr5:106185200-106185400	Enhancers	Liver	Liver
30	chr5:106185200-106185400	Enhancers	Fetal Lung	lung
31	chr5:106185600-106187200	Weak transcription	A549	lung
32	chr5:106187200-106187800	Enhancers	Fetal Lung	lung
33	chr5:106187200-106188200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:106187200-106188200	Enhancers	A549	lung
35	chr5:106187400-106187800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:106189600-106194200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:106190000-106190200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:106190200-106190600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:106190600-106191200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr5:106191200-106198600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:106194000-106194800	Enhancers	Brain Germinal Matrix	brain
42	chr5:106194200-106194400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:106194200-106194800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:106194400-106194800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:106195000-106198600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:106196000-106199600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:106196200-106196800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr5:106196200-106199400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:106196400-106196600	Enhancers	GM12878-XiMat	blood
50	chr5:106196400-106199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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