Variant report

Variant	nsv882534
Chromosome Location	chr5:103634138-103828340
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:25)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103662029..103663844-chr5:103689569..103691158,2	MCF-7	breast:
2	chr5:103755525..103757594-chr5:103760680..103762734,2	K562	blood:
3	chr5:103755525..103757594-chr5:103760680..103762734,2	K562	blood:
4	chr5:103764530..103765315-chr5:105577184..105577701,2	MCF-7	breast:
5	chr5:103812785..103815361-chr5:104049597..104051659,2	K562	blood:
6	chr5:103633936..103636203-chr5:103642524..103644574,2	K562	blood:
7	chr5:103633936..103636203-chr5:103642524..103644574,2	K562	blood:
8	chr5:103662029..103663844-chr5:103689569..103691158,2	MCF-7	breast:
9	chr5:103747998..103750504-chr5:103755568..103757533,2	MCF-7	breast:
10	chr5:102891327..102893155-chr5:103823232..103825009,2	K562	blood:
11	chr5:103575723..103577605-chr5:103642604..103644571,2	K562	blood:
12	chr5:103808557..103811668-chr5:103812642..103816209,3	MCF-7	breast:
13	chr5:103677480..103679978-chr5:103685994..103688346,2	K562	blood:
14	chr5:103720063..103721767-chr5:103728887..103730529,2	MCF-7	breast:
15	chr5:103630146..103633049-chr5:103637946..103640879,3	K562	blood:
16	chr5:103794931..103796667-chr5:103798124..103800738,2	K562	blood:
17	chr5:75897144..75897771-chr5:103707251..103707772,2	MCF-7	breast:
18	chr5:103794931..103796667-chr5:103798124..103800738,2	K562	blood:
19	chr5:103747998..103750504-chr5:103755568..103757533,2	MCF-7	breast:
20	chr5:103144212..103144806-chr5:103748305..103749025,2	MCF-7	breast:
21	chr5:103808557..103811668-chr5:103812642..103816209,3	MCF-7	breast:
22	chr5:103541472..103544045-chr5:103667629..103669884,2	K562	blood:
23	chr5:103720063..103721767-chr5:103728887..103730529,2	MCF-7	breast:
24	chr5:103761403..103764401-chr5:103998452..104000157,2	MCF-7	breast:
25	chr5:103677480..103679978-chr5:103685994..103688346,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-6	chr5:103718999-103719083	ENSG00000251574
2	lnc-NUDT12-4	chr5:103716257-103716480	XLOC_004946
3	lnc-NUDT12-4	chr5:103716610-103716740	XLOC_004946
4	lnc-NUDT12-6	chr5:103819905-103820353	ENSG00000251574

No data

Variant related genes	Relation type
ENSG00000112874	chromatin interactions

Extended variants
information (count: 2443 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2443 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577473181	chr5:103636879-103636880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369645550	chr5:103636894-103636895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147547469	chr5:103636895-103636896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546436696	chr5:103636939-103636940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562956453	chr5:103636945-103636946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138467883	chr5:103636946-103636947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578025382	chr5:103636964-103636965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181720408	chr5:103637012-103637013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529733496	chr5:103637025-103637026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546279063	chr5:103637035-103637036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373268275	chr5:103637053-103637054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545392763	chr5:103637095-103637096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376780939	chr5:103637117-103637118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199660123	chr5:103637159-103637160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371135238	chr5:103637167-103637168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538569067	chr5:103637200-103637201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552417340	chr5:103637221-103637222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374582024	chr5:103637231-103637232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144024924	chr5:103637232-103637233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527998092	chr5:103637259-103637260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74859348	chr5:103637264-103637265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147264996	chr5:103637324-103637325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34450833	chr5:103637414-103637415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139792576	chr5:103637446-103637447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186734242	chr5:103637453-103637454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149761556	chr5:103637509-103637510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144680861	chr5:103637576-103637577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188587471	chr5:103637615-103637616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181041800	chr5:103637644-103637645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550637569	chr5:103637742-103637743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544925589	chr5:103637747-103637748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148520446	chr5:103637767-103637768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549230562	chr5:103637768-103637769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561897562	chr5:103637778-103637779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529758997	chr5:103637851-103637852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143472315	chr5:103637895-103637896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559911598	chr5:103637917-103637918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146766364	chr5:103637938-103637939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185165656	chr5:103638026-103638027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6873252	chr5:103638031-103638032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189580367	chr5:103638039-103638040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531960404	chr5:103638047-103638048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548409508	chr5:103638070-103638071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140328963	chr5:103638075-103638076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11409852	chr5:103638127-103638128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs398109251	chr5:103638136-103638137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114985930	chr5:103638172-103638173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554211308	chr5:103638180-103638181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539122681	chr5:103638228-103638229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539859496	chr5:103638232-103638233	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
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	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Obesity	20622171	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103636800-103637200	Enhancers	HepG2	liver
2	chr5:103636800-103638400	Enhancers	HUVEC	blood vessel
3	chr5:103637600-103638000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:103653600-103654000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:103654000-103658400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:103661200-103661400	Enhancers	Fetal Brain Male	brain
7	chr5:103662800-103663200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:103662800-103664400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:103663200-103663600	Enhancers	Fetal Brain Male	brain
10	chr5:103663400-103664200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:103663600-103667600	Weak transcription	Fetal Brain Male	brain
12	chr5:103674200-103675000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:103674600-103674800	Enhancers	Fetal Lung	lung
14	chr5:103674800-103675800	Weak transcription	Fetal Lung	lung
15	chr5:103675000-103676600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:103675000-103678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:103675200-103676200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:103675200-103676400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:103675200-103676600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:103675600-103676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:103675600-103676400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:103675600-103676600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:103675800-103676200	Enhancers	Fetal Lung	lung
24	chr5:103675800-103676600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:103676000-103676600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:103676200-103680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:103676200-103681000	Weak transcription	Fetal Lung	lung
28	chr5:103676600-103680600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:103676600-103680800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:103676600-103684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:103677600-103677800	Enhancers	Gastric	stomach
32	chr5:103678600-103679400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:103679400-103680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:103680000-103680800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:103680200-103680800	Enhancers	NH-A	brain
36	chr5:103680400-103681000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:103680600-103680800	Enhancers	HMEC	breast
38	chr5:103680600-103680800	Active TSS	HUVEC	blood vessel
39	chr5:103680600-103681000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:103680600-103681600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:103680600-103681600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:103680600-103681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:103680800-103681000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:103680800-103681000	Enhancers	HUVEC	blood vessel
45	chr5:103680800-103681000	Active TSS	Osteobl	bone
46	chr5:103680800-103681200	Flanking Active TSS	HMEC	breast
47	chr5:103680800-103681600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:103680800-103681600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:103680800-103681600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:103680800-103681600	Flanking Active TSS	NH-A	brain

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