Variant report

Variant	nsv599178
Chromosome Location	chr5:100609923-100665557
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	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
3	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
4	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:

Extended variants
information (count: 1175 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1175 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566048314	chr5:100613425-100613426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530080327	chr5:100613430-100613431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551328937	chr5:100613452-100613453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562425786	chr5:100613454-100613455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558139920	chr5:100613476-100613477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529223312	chr5:100613502-100613503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547777058	chr5:100613519-100613520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188514428	chr5:100613567-100613568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138873790	chr5:100613573-100613574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551487765	chr5:100613594-100613595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576405363	chr5:100613606-100613607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149298637	chr5:100613652-100613653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534114255	chr5:100613660-100613661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11952877	chr5:100613678-100613679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555196542	chr5:100613728-100613729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548437517	chr5:100613772-100613773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114672479	chr5:100613799-100613800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552932691	chr5:100613810-100613811	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115063285	chr5:100613861-100613862	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570124487	chr5:100613905-100613906	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192871171	chr5:100613921-100613922	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557110150	chr5:100613925-100613926	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576680172	chr5:100613993-100613994	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544031941	chr5:100613999-100614000	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs562200305	chr5:100614042-100614043	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144579823	chr5:100614066-100614067	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541407462	chr5:100614070-100614071	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148486286	chr5:100614079-100614080	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184064910	chr5:100614104-100614105	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551426288	chr5:100614119-100614120	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111498727	chr5:100614181-100614182	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs373334032	chr5:100614297-100614298	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563446718	chr5:100614352-100614353	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs374839395	chr5:100614362-100614363	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs141613612	chr5:100614398-100614399	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188749683	chr5:100614416-100614417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537255970	chr5:100614438-100614439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537389400	chr5:100614450-100614451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558677812	chr5:100614454-100614455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570830090	chr5:100614545-100614546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114113425	chr5:100614567-100614568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150516818	chr5:100614663-100614664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546614126	chr5:100614706-100614707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571737311	chr5:100614757-100614758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201735044	chr5:100614776-100614777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536603360	chr5:100614801-100614802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371088303	chr5:100614847-100614848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571190961	chr5:100614873-100614874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139857281	chr5:100614904-100614905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557046738	chr5:100614969-100614970	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100613400-100615000	Enhancers	HMEC	breast
2	chr5:100613800-100614000	Active TSS	A549	lung
3	chr5:100613800-100614200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:100613800-100614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:100613800-100614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:100614000-100614400	Flanking Active TSS	A549	lung
7	chr5:100614400-100615000	Enhancers	A549	lung
8	chr5:100614800-100615400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:100620600-100621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:100624800-100625200	Enhancers	Hela-S3	cervix
11	chr5:100627400-100640200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:100628000-100629000	Enhancers	Dnd41	blood
13	chr5:100640200-100640600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:100640600-100641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:100641200-100641400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:100641200-100642000	Enhancers	A549	lung
17	chr5:100642000-100642200	Flanking Active TSS	A549	lung
18	chr5:100642200-100642600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:100642200-100642600	Active TSS	A549	lung
20	chr5:100642200-100642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:100642600-100643000	Flanking Active TSS	A549	lung
22	chr5:100643000-100643600	Enhancers	A549	lung
23	chr5:100647400-100650800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:100647600-100648400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:100647600-100648400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:100650600-100651000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:100650800-100651000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:100651000-100652400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:100651000-100652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:100652400-100653400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:100652800-100653200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:100653200-100656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:100656200-100657000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:100656400-100657000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:100665200-100665800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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