Variant report

Variant	nsv599210
Chromosome Location	chr5:103679255-103788551
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103720063..103721767-chr5:103728887..103730529,2	MCF-7	breast:
2	chr5:103747998..103750504-chr5:103755568..103757533,2	MCF-7	breast:
3	chr5:103662029..103663844-chr5:103689569..103691158,2	MCF-7	breast:
4	chr5:75897144..75897771-chr5:103707251..103707772,2	MCF-7	breast:
5	chr5:103764530..103765315-chr5:105577184..105577701,2	MCF-7	breast:
6	chr5:103755525..103757594-chr5:103760680..103762734,2	K562	blood:
7	chr5:103677480..103679978-chr5:103685994..103688346,2	K562	blood:
8	chr5:103720063..103721767-chr5:103728887..103730529,2	MCF-7	breast:
9	chr5:103761403..103764401-chr5:103998452..104000157,2	MCF-7	breast:
10	chr5:103677480..103679978-chr5:103685994..103688346,2	K562	blood:
11	chr5:103747998..103750504-chr5:103755568..103757533,2	MCF-7	breast:
12	chr5:103755525..103757594-chr5:103760680..103762734,2	K562	blood:
13	chr5:103144212..103144806-chr5:103748305..103749025,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-4	chr5:103716257-103716480	XLOC_004946
2	lnc-NUDT12-4	chr5:103716610-103716740	XLOC_004946
3	lnc-NUDT12-6	chr5:103718999-103719083	ENSG00000251574

No data

Extended variants
information (count: 1399 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1399 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs168388	chr5:103679255-103679256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7707738	chr5:103679283-103679284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552223225	chr5:103679291-103679292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374793360	chr5:103679292-103679293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531288824	chr5:103679337-103679338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548125971	chr5:103679359-103679360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568004954	chr5:103679365-103679366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74728326	chr5:103679372-103679373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189387513	chr5:103679401-103679402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182227064	chr5:103679461-103679462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560563920	chr5:103679503-103679504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539563016	chr5:103679511-103679512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556582646	chr5:103679521-103679522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77481409	chr5:103679542-103679543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573303385	chr5:103679638-103679639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535841789	chr5:103679639-103679640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35636188	chr5:103679737-103679738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139758458	chr5:103679757-103679758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200919817	chr5:103679783-103679784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386690706	chr5:103679784-103679785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575289601	chr5:103679785-103679786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572762342	chr5:103679786-103679787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140979824	chr5:103679818-103679819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143395423	chr5:103679820-103679821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187373504	chr5:103679850-103679851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190786982	chr5:103679944-103679945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35320800	chr5:103679965-103679966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562598777	chr5:103680023-103680024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146683322	chr5:103680041-103680042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140290456	chr5:103680054-103680055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181618650	chr5:103680087-103680088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17156455	chr5:103680131-103680132	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547253238	chr5:103680139-103680140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570560814	chr5:103680142-103680143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533105584	chr5:103680154-103680155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369538622	chr5:103680156-103680157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144888349	chr5:103680158-103680159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17156457	chr5:103680171-103680172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573982690	chr5:103680174-103680175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149041938	chr5:103680179-103680180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185902230	chr5:103680194-103680195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202110796	chr5:103680217-103680218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529625220	chr5:103680254-103680255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116747975	chr5:103680264-103680265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535355471	chr5:103680298-103680299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558445539	chr5:103680320-103680321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578143473	chr5:103680461-103680462	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2963226	chr5:103680467-103680468	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190323985	chr5:103680468-103680469	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576063952	chr5:103680517-103680518	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	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
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103676200-103680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:103676200-103681000	Weak transcription	Fetal Lung	lung
3	chr5:103676600-103680600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:103676600-103680800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:103676600-103684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:103678600-103679400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:103679400-103680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:103680000-103680800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:103680200-103680800	Enhancers	NH-A	brain
10	chr5:103680400-103681000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:103680600-103680800	Enhancers	HMEC	breast
12	chr5:103680600-103680800	Active TSS	HUVEC	blood vessel
13	chr5:103680600-103681000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:103680600-103681600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:103680600-103681600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:103680600-103681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:103680800-103681000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:103680800-103681000	Enhancers	HUVEC	blood vessel
19	chr5:103680800-103681000	Active TSS	Osteobl	bone
20	chr5:103680800-103681200	Flanking Active TSS	HMEC	breast
21	chr5:103680800-103681600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:103680800-103681600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:103680800-103681600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:103680800-103681600	Flanking Active TSS	NH-A	brain
25	chr5:103681000-103681200	Flanking Active TSS	HUVEC	blood vessel
26	chr5:103681000-103681400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:103681000-103681400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:103681000-103681400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:103681000-103681400	Active TSS	Brain Anterior Caudate	brain
30	chr5:103681000-103681600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:103681000-103681600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:103681000-103681600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:103681000-103681600	Enhancers	Brain Hippocampus Middle	brain
34	chr5:103681000-103681600	Enhancers	Fetal Lung	lung
35	chr5:103681000-103681600	Enhancers	HSMMtube	muscle
36	chr5:103681000-103681600	Flanking Active TSS	Osteobl	bone
37	chr5:103681000-103681800	Enhancers	HSMM	muscle
38	chr5:103681200-103681400	Enhancers	HUVEC	blood vessel
39	chr5:103681200-103681600	Enhancers	HMEC	breast
40	chr5:103681400-103681800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:103681600-103681800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:103681600-103681800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:103681600-103682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:103681600-103682000	Enhancers	Osteobl	bone
45	chr5:103681600-103683000	Weak transcription	Fetal Lung	lung
46	chr5:103681600-103683400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:103681600-103685400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:103681800-103682800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:103681800-103683000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:103682800-103683000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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