Variant report

Variant	nsv882637
Chromosome Location	chr5:104880515-104980355
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104886320..104887974-chr5:104890366..104891898,2	MCF-7	breast:
2	chr5:104886320..104887974-chr5:104890366..104891898,2	MCF-7	breast:
3	chr5:104733236..104736068-chr5:104886596..104888346,2	MCF-7	breast:
4	chr5:104943469..104946264-chr5:104959458..104962320,2	K562	blood:
5	chr5:104950620..104953196-chr5:104960454..104963137,2	K562	blood:
6	chr5:104952005..104953083-chr5:105576858..105577888,9	MCF-7	breast:
7	chr5:103982040..103982621-chr5:104952113..104952873,2	MCF-7	breast:
8	chr5:104928031..104930264-chr5:104952247..104955234,2	MCF-7	breast:
9	chr5:104929507..104932104-chr5:104932394..104934135,2	MCF-7	breast:
10	chr5:104952039..104952571-chr5:105577029..105577838,2	MCF-7	breast:
11	chr5:104955261..104956180-chr5:105577014..105577827,4	MCF-7	breast:
12	chr5:104926004..104928970-chr5:104930124..104932222,3	K562	blood:
13	chr5:104369743..104372595-chr5:104912590..104914639,2	K562	blood:
14	chr5:104928031..104930264-chr5:104952247..104955234,2	MCF-7	breast:
15	chr5:104950620..104953196-chr5:104960454..104963137,2	K562	blood:
16	chr5:104955524..104956144-chr5:105577134..105577974,2	MCF-7	breast:
17	chr5:104943469..104946264-chr5:104959458..104962320,2	K562	blood:
18	chr5:104952188..104952864-chr5:105577091..105577886,5	MCF-7	breast:
19	chr5:104929507..104932104-chr5:104932394..104934135,2	MCF-7	breast:
20	chr5:104927470..104929144-chr5:104929220..104932182,2	K562	blood:
21	chr5:104927470..104929144-chr5:104929220..104932182,2	K562	blood:
22	chr5:104952005..104953083-chr5:105576858..105577888,8	MCF-7	breast:
23	chr5:104524711..104526370-chr5:104889242..104892104,2	K562	blood:
24	chr5:104926004..104928970-chr5:104930124..104932222,3	K562	blood:

No data

Extended variants
information (count: 816 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144544582	chr5:104884625-104884626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541037148	chr5:104884640-104884641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560823978	chr5:104884646-104884647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7712107	chr5:104884658-104884659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566704208	chr5:104884664-104884665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532544467	chr5:104884697-104884698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551376121	chr5:104884711-104884712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571254824	chr5:104884750-104884751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146456377	chr5:104884765-104884766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184302327	chr5:104884794-104884795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556704673	chr5:104884840-104884841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567146955	chr5:104884917-104884918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116694831	chr5:104884921-104884922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553042988	chr5:104885004-104885005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572922563	chr5:104885008-104885009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572743071	chr5:104885010-104885011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545036371	chr5:104885017-104885018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368089984	chr5:104885060-104885061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559274331	chr5:104885082-104885083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7700864	chr5:104885106-104885107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544933652	chr5:104885120-104885121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111646214	chr5:104885131-104885132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139795756	chr5:104885144-104885145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574978585	chr5:104885170-104885171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540325386	chr5:104885210-104885211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560675647	chr5:104885218-104885219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376681157	chr5:104885231-104885232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555448473	chr5:104885252-104885253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4354006	chr5:104885294-104885295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs564821177	chr5:104885335-104885336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562288994	chr5:104885457-104885458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76910321	chr5:104885568-104885569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188207652	chr5:104885575-104885576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150018131	chr5:104885576-104885577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555281896	chr5:104885621-104885622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536487823	chr5:104885634-104885635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546377036	chr5:104885638-104885639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566590875	chr5:104885682-104885683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538243459	chr5:104885702-104885703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563363189	chr5:104885713-104885714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575477345	chr5:104885719-104885720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575331733	chr5:104885725-104885726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201235825	chr5:104885728-104885729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555310134	chr5:104885731-104885732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564045753	chr5:104885736-104885737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184146290	chr5:104885769-104885770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6596627	chr5:104885793-104885794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188873257	chr5:104885813-104885814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551941448	chr5:104885824-104885825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528097670	chr5:104885844-104885845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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	21293372	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104884600-104886200	Weak transcription	Aorta	Aorta
2	chr5:104886400-104887000	Enhancers	Colon Smooth Muscle	Colon
3	chr5:104889000-104890600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:104890000-104890600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:104890200-104890600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:104891000-104899400	Weak transcription	Aorta	Aorta
7	chr5:104897600-104898200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:104898200-104898600	Enhancers	Fetal Lung	lung
9	chr5:104899400-104899600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:104899400-104899600	ZNF genes & repeats	Aorta	Aorta
11	chr5:104899400-104899800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:104917600-104918000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:104918000-104918400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:104918000-104918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:104923800-104924200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:104928800-104929000	Enhancers	K562	blood
17	chr5:104929000-104929400	Flanking Active TSS	K562	blood
18	chr5:104929400-104930200	Enhancers	K562	blood
19	chr5:104952400-104954400	Enhancers	Fetal Lung	lung
20	chr5:104966400-104967000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:104974000-104974400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:104974000-104974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:104974000-104974600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:104974000-104975200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:104974000-104975400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:104974200-104975000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:104974800-104975000	ZNF genes & repeats	Pancreas	Pancrea
28	chr5:104974800-104975200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:104974800-104975200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:104974800-104975200	Enhancers	Placenta	Placenta
31	chr5:104975200-104977200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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