Variant report

Variant	nsv432803
Chromosome Location	chr5:119419101-119659101
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119522399..119524409-chr5:119526483..119528951,2	K562	blood:
2	chr5:119611234..119613467-chr5:119620898..119622860,2	K562	blood:
3	chr5:119611234..119613467-chr5:119620898..119622860,2	K562	blood:
4	chr5:119644924..119647255-chr5:119650755..119652269,2	MCF-7	breast:
5	chr14:81685904..81686476-chr5:119526721..119527705,2	NB4	blood:
6	chr5:119605903..119607846-chr5:119609534..119611047,2	K562	blood:
7	chr5:119522399..119524409-chr5:119526483..119528951,2	K562	blood:
8	chr5:119644924..119647255-chr5:119650755..119652269,2	MCF-7	breast:
9	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
10	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
11	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
12	chr5:119490690..119493114-chr7:5464157..5466979,2	MCF-7	breast:
13	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
14	chr5:119605903..119607846-chr5:119609534..119611047,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-4	chr5:119581143-119581328	XLOC_004969

No data

Variant related genes	Relation type
ENSG00000272953	chromatin interactions
ENSG00000182095	chromatin interactions

Extended variants
information (count: 5688 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:5688 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386691718	chr5:119419800-119419801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560159616	chr5:119419801-119419802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528978237	chr5:119419802-119419803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148377078	chr5:119419877-119419878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568502527	chr5:119419886-119419887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531253263	chr5:119419922-119419923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149590142	chr5:119419928-119419929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185097154	chr5:119419931-119419932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535517752	chr5:119419971-119419972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13436319	chr5:119420011-119420012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190590222	chr5:119420033-119420034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141391736	chr5:119420081-119420082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115266472	chr5:119420144-119420145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147467240	chr5:119420191-119420192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181747062	chr5:119420262-119420263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186766768	chr5:119420278-119420279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80269737	chr5:119420319-119420320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371060937	chr5:119420326-119420327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557993575	chr5:119420389-119420390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189659023	chr5:119420392-119420393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376182738	chr5:119420409-119420410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373159354	chr5:119420420-119420421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111371414	chr5:119420430-119420431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76119805	chr5:119420431-119420432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376475455	chr5:119420440-119420441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557058887	chr5:119420442-119420443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575431384	chr5:119420447-119420448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77983458	chr5:119420455-119420456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564080734	chr5:119420457-119420458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs768059	chr5:119420461-119420462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560067381	chr5:119420465-119420466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573535126	chr5:119420499-119420500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs255792	chr5:119420550-119420551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562246918	chr5:119420551-119420552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541407661	chr5:119420552-119420553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551104416	chr5:119420625-119420626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181315583	chr5:119420642-119420643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533434526	chr5:119420670-119420671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547302161	chr5:119420686-119420687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566940959	chr5:119420692-119420693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145487525	chr5:119420693-119420694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549453804	chr5:119420724-119420725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147277143	chr5:119420813-119420814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538209589	chr5:119420825-119420826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557891142	chr5:119420848-119420849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185392098	chr5:119420863-119420864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530268493	chr5:119420897-119420898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369648489	chr5:119420924-119420925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548783174	chr5:119420937-119420938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62375298	chr5:119420945-119420946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119419800-119420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:119420000-119420400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:119420000-119420400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:119420000-119420600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:119420000-119420800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:119420000-119420800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:119420200-119420600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:119420800-119424200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:119422000-119422400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:119423000-119425200	Enhancers	Dnd41	blood
11	chr5:119423200-119424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:119423200-119428800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:119423600-119424800	Enhancers	Primary T cells from cord blood	blood
14	chr5:119423800-119425000	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:119423800-119425000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:119423800-119425200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:119424000-119424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:119424000-119426800	Enhancers	Fetal Heart	heart
19	chr5:119424200-119424400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:119424200-119424600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:119424200-119424600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:119424200-119424800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:119424400-119428600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:119424600-119428600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:119424800-119428600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:119425000-119428600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:119425000-119428800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:119425200-119428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:119425200-119432000	Weak transcription	Dnd41	blood
30	chr5:119426400-119426800	Enhancers	Fetal Brain Male	brain
31	chr5:119426800-119431000	Weak transcription	Fetal Heart	heart
32	chr5:119428600-119429000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:119428600-119429400	Enhancers	Primary hematopoietic stem cells	blood
34	chr5:119428600-119429400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:119428600-119429600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:119428800-119429000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:119428800-119429000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr5:119428800-119429200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr5:119429000-119429200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:119429000-119429400	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr5:119429200-119429400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:119429400-119430000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:119429400-119431600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:119429400-119431800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:119429400-119432200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr5:119429600-119431600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr5:119430000-119439200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:119430800-119431200	Enhancers	Fetal Muscle Leg	muscle
49	chr5:119431000-119431200	Enhancers	Psoas Muscle	Psoas
50	chr5:119431000-119431400	Enhancers	Fetal Heart	heart

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