Variant report

Variant	nsv882781
Chromosome Location	chr5:119369334-119557828
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:1)
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	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
2	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
3	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
4	chr5:119522399..119524409-chr5:119526483..119528951,2	K562	blood:
5	chr5:119490690..119493114-chr7:5464157..5466979,2	MCF-7	breast:
6	chr14:81685904..81686476-chr5:119526721..119527705,2	NB4	blood:
7	chr5:119522399..119524409-chr5:119526483..119528951,2	K562	blood:
8	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
9	chr3:99997776..99998276-chr5:119383981..119384507,2	MCF-7	breast:
10	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
11	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
12	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
13	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM170A-2	chr5:119375212-119375297	l_3004_chr5:119198853-119375297_testes

No data

Variant related genes	Relation type
ENSG00000182095	chromatin interactions
ENSG00000272953	chromatin interactions

Extended variants
information (count: 4442 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4442 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77745258	chr5:119372454-119372455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79808548	chr5:119372506-119372507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6595205	chr5:119372533-119372534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544178565	chr5:119372602-119372603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371048990	chr5:119372623-119372624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190965293	chr5:119372624-119372625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1035406	chr5:119372737-119372738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540163773	chr5:119372741-119372742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183497458	chr5:119372823-119372824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529096862	chr5:119372834-119372835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549026307	chr5:119372860-119372861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568961032	chr5:119372865-119372866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143378758	chr5:119372881-119372882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367767796	chr5:119372896-119372897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1348476	chr5:119372962-119372963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569469623	chr5:119372965-119372966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540086570	chr5:119373052-119373053	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374912202	chr5:119373066-119373067	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112774388	chr5:119373163-119373164	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1348475	chr5:119373232-119373233	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553690579	chr5:119373252-119373253	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564409715	chr5:119373296-119373297	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535687394	chr5:119373328-119373329	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112433362	chr5:119373349-119373350	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191196373	chr5:119373354-119373355	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183109932	chr5:119373360-119373361	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs144281461	chr5:119373364-119373365	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557688170	chr5:119373371-119373372	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577960283	chr5:119373397-119373398	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs12719270	chr5:119373458-119373459	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs114079057	chr5:119373466-119373467	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147141829	chr5:119373474-119373475	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187948133	chr5:119373516-119373517	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs562722238	chr5:119373520-119373521	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs191470435	chr5:119373523-119373524	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182135622	chr5:119373562-119373563	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs571216124	chr5:119373600-119373601	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs12719271	chr5:119373617-119373618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs918468	chr5:119373635-119373636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536190341	chr5:119373675-119373676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555530965	chr5:119373679-119373680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187899051	chr5:119373680-119373681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533144994	chr5:119373682-119373683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140401813	chr5:119373686-119373687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192371643	chr5:119373711-119373712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557849573	chr5:119373713-119373714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185267145	chr5:119373750-119373751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540245578	chr5:119373770-119373771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374851175	chr5:119373789-119373790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554168322	chr5:119373801-119373802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119372400-119374000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:119372600-119373000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:119372600-119373800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:119373000-119373600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:119373600-119374000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:119373800-119375200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:119374000-119375200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:119374000-119375400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:119375200-119376000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:119375200-119376000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:119375400-119376000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:119376000-119378600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:119376000-119379200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:119377400-119377800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:119378600-119379600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:119379200-119380200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:119380200-119382600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:119382600-119383200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:119383200-119385000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:119385000-119385200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:119385600-119385800	ZNF genes & repeats	Fetal Brain Male	brain
22	chr5:119385800-119388800	Weak transcription	Fetal Brain Male	brain
23	chr5:119388400-119389800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:119388600-119388800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:119388600-119390000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:119388600-119390400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:119388800-119389200	Enhancers	Fetal Brain Male	brain
28	chr5:119388800-119389400	Enhancers	Fetal Heart	heart
29	chr5:119388800-119389600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:119389000-119389200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:119389000-119389400	Enhancers	NHDF-Ad	bronchial
32	chr5:119389000-119389800	Enhancers	HSMMtube	muscle
33	chr5:119389200-119389600	Active TSS	Aorta	Aorta
34	chr5:119389200-119389800	Enhancers	Osteobl	bone
35	chr5:119389200-119390000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:119389400-119389800	Weak transcription	NHDF-Ad	bronchial
37	chr5:119389400-119390000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:119389400-119391400	Weak transcription	Fetal Heart	heart
39	chr5:119389600-119389800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:119389600-119390200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr5:119389800-119390000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:119389800-119390000	Enhancers	NHDF-Ad	bronchial
43	chr5:119390000-119391400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:119390000-119392200	Weak transcription	NHDF-Ad	bronchial
45	chr5:119390200-119390400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:119390400-119392000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:119391400-119392600	Enhancers	Fetal Heart	heart
48	chr5:119391600-119391800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr5:119391800-119392000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:119391800-119392000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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