Variant report

Variant	nsv1030294
Chromosome Location	chr5:100719864-100757488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100726516..100727169-chr5:101014073..101014596,2	MCF-7	breast:
2	chr5:100726013..100726646-chr5:100925875..100926725,2	MCF-7	breast:
3	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
4	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:

Extended variants
information (count: 277 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73777782	chr5:100725840-100725841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76981435	chr5:100725883-100725884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531754371	chr5:100725885-100725886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377067617	chr5:100725890-100725891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561550805	chr5:100725909-100725910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529108444	chr5:100725968-100725969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547302779	chr5:100725978-100725979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192122265	chr5:100725994-100725995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77557202	chr5:100726076-100726077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551122726	chr5:100726093-100726094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146334065	chr5:100726118-100726119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536792234	chr5:100726120-100726121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75734181	chr5:100726121-100726122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530835110	chr5:100726128-100726129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552186253	chr5:100726228-100726229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557974070	chr5:100726263-100726264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139551469	chr5:100726285-100726286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58433388	chr5:100726331-100726332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368185204	chr5:100726332-100726333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568687030	chr5:100726347-100726348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139097970	chr5:100726351-100726352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570747552	chr5:100726354-100726355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71620638	chr5:100726374-100726375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397942137	chr5:100726375-100726376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373702091	chr5:100726376-100726377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377622669	chr5:100726377-100726378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369990380	chr5:100726384-100726385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374327988	chr5:100726385-100726386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536129192	chr5:100726386-100726387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139064869	chr5:100726391-100726392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564815629	chr5:100729203-100729204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114334666	chr5:100729231-100729232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145400378	chr5:100729248-100729249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531070125	chr5:100729292-100729293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75645998	chr5:100729331-100729332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141471360	chr5:100729351-100729352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115233669	chr5:100729356-100729357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370233361	chr5:100729357-100729358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116224341	chr5:100729364-100729365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571646063	chr5:100729398-100729399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539124479	chr5:100729399-100729400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550461272	chr5:100729408-100729409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553055032	chr5:100729424-100729425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375455552	chr5:100729432-100729433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545243999	chr5:100729437-100729438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144985556	chr5:100729469-100729470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138787480	chr5:100729487-100729488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376023555	chr5:100729534-100729535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113774499	chr5:100729556-100729557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187754879	chr5:100729570-100729571	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	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
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100725800-100726200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:100725800-100726200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:100725800-100726200	Enhancers	Brain Anterior Caudate	brain
4	chr5:100725800-100726400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:100725800-100726400	Enhancers	A549	lung
6	chr5:100726000-100726400	Enhancers	Fetal Brain Male	brain
7	chr5:100729200-100729600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:100729200-100729600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:100729400-100730200	Enhancers	Brain Germinal Matrix	brain
10	chr5:100729600-100730000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:100729600-100730400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:100730000-100730600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:100730400-100730800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:100738800-100739600	Enhancers	Fetal Brain Male	brain
15	chr5:100753800-100754800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:100754000-100754200	Enhancers	Fetal Lung	lung
17	chr5:100754000-100754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:100754200-100754600	Enhancers	Rectal Smooth Muscle	rectum
19	chr5:100754200-100754800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:100754200-100754800	Enhancers	Fetal Kidney	kidney
21	chr5:100754200-100754800	Flanking Active TSS	Fetal Lung	lung
22	chr5:100754200-100755000	Enhancers	NHDF-Ad	bronchial
23	chr5:100754400-100754800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:100754400-100754800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:100754400-100754800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:100754400-100754800	Enhancers	Fetal Stomach	stomach
27	chr5:100754400-100755000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:100754400-100755200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:100754800-100755200	Enhancers	Fetal Lung	lung
30	chr5:100754800-100758600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:100754800-100759400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:100755000-100759200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:100755000-100759400	Weak transcription	NHDF-Ad	bronchial
34	chr5:100755200-100760400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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