Variant report

Variant	nsv882489
Chromosome Location	chr5:100640721-100710312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
2	chr5:99959582..99960217-chr5:100683267..100683815,2	MCF-7	breast:
3	chr5:99983058..99983589-chr5:100699944..100700904,2	MCF-7	breast:
4	chr11:45378931..45379643-chr5:100700753..100701279,2	MCF-7	breast:
5	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
6	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:

Extended variants
information (count: 1444 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1444 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10075922	chr5:100640721-100640722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565703343	chr5:100640727-100640728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544597507	chr5:100640750-100640751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570392720	chr5:100640755-100640756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189590416	chr5:100640778-100640779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548414997	chr5:100640807-100640808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374915875	chr5:100640809-100640810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10055325	chr5:100640817-100640818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532020637	chr5:100640856-100640857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527506225	chr5:100640865-100640866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552391424	chr5:100640947-100640948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116401235	chr5:100640994-100640995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572145662	chr5:100641211-100641212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540465844	chr5:100641220-100641221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192407646	chr5:100641226-100641227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76619689	chr5:100641292-100641293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375899111	chr5:100641295-100641296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371703235	chr5:100641321-100641322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562843355	chr5:100641341-100641342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530120583	chr5:100641376-100641377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542271622	chr5:100641398-100641399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558748700	chr5:100641400-100641401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577093500	chr5:100641417-100641418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527835239	chr5:100641423-100641424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142502561	chr5:100641425-100641426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570327333	chr5:100641432-100641433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143352737	chr5:100641433-100641434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111862248	chr5:100641465-100641466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185550117	chr5:100641481-100641482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535095177	chr5:100641528-100641529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79709211	chr5:100641530-100641531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565615847	chr5:100641579-100641580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62384891	chr5:100641585-100641586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559160428	chr5:100641660-100641661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541811928	chr5:100641678-100641679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190430059	chr5:100641688-100641689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544873063	chr5:100641696-100641697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556908187	chr5:100641710-100641711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148370724	chr5:100641717-100641718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34086225	chr5:100641721-100641722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541856778	chr5:100641734-100641735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181376638	chr5:100641751-100641752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560564474	chr5:100641759-100641760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572413412	chr5:100641818-100641819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386690521	chr5:100641829-100641830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116744913	chr5:100641831-100641832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184511380	chr5:100641838-100641839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549605840	chr5:100641847-100641848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561644264	chr5:100641882-100641883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79172487	chr5:100641969-100641970	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100640600-100641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100641200-100641400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:100641200-100642000	Enhancers	A549	lung
4	chr5:100642000-100642200	Flanking Active TSS	A549	lung
5	chr5:100642200-100642600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:100642200-100642600	Active TSS	A549	lung
7	chr5:100642200-100642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:100642600-100643000	Flanking Active TSS	A549	lung
9	chr5:100643000-100643600	Enhancers	A549	lung
10	chr5:100647400-100650800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:100647600-100648400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:100647600-100648400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:100650600-100651000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:100650800-100651000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:100651000-100652400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100651000-100652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:100652400-100653400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:100652800-100653200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:100653200-100656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:100656200-100657000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:100656400-100657000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:100665200-100665800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:100666800-100667000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:100673000-100674200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:100673200-100674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:100673200-100674000	Enhancers	Fetal Lung	lung
27	chr5:100673800-100674000	Enhancers	Fetal Brain Male	brain
28	chr5:100674200-100674400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:100674400-100674800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:100674800-100675000	Enhancers	Fetal Brain Male	brain
31	chr5:100674800-100675800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:100675800-100676600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:100676200-100676600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:100676600-100683200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:100683000-100683400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:100683200-100683600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:100683400-100683800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:100691800-100692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:100695000-100696000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:100695400-100696000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:100696000-100699000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:100696000-100699400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:100696600-100696800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:100697200-100697600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:100697600-100699800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:100699000-100700000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:100699400-100700800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:100699800-100700000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:100700000-100700200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:100700000-100700400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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