Variant report

Variant	nsv981025
Chromosome Location	chr5:100438355-100459026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100420424..100422680-chr5:100454065..100456337,2	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73169331	chr5:100438372-100438373	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557697879	chr5:100438494-100438495	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575963026	chr5:100438510-100438511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186925761	chr5:100438527-100438528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35816291	chr5:100438577-100438578	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73169332	chr5:100438625-100438626	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562241697	chr5:100438665-100438666	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572886654	chr5:100438682-100438683	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73169333	chr5:100438710-100438711	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564585238	chr5:100438718-100438719	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531971281	chr5:100438821-100438822	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs72778679	chr5:100438905-100438906	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77481348	chr5:100438906-100438907	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529907519	chr5:100438922-100438923	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548096346	chr5:100438928-100438929	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs566639842	chr5:100438955-100438956	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115723032	chr5:100438966-100438967	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371991011	chr5:100438980-100438981	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115805321	chr5:100439034-100439035	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs10041629	chr5:100439094-100439095	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368868472	chr5:100439137-100439138	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557145650	chr5:100439153-100439154	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569587623	chr5:100439263-100439264	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192481268	chr5:100439302-100439303	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554892335	chr5:100439374-100439375	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115218306	chr5:100439388-100439389	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs546091915	chr5:100439399-100439400	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565200221	chr5:100439405-100439406	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539993925	chr5:100439428-100439429	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558238365	chr5:100439473-100439474	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs140471352	chr5:100439504-100439505	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184076992	chr5:100439559-100439560	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs199756990	chr5:100439602-100439603	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs562106816	chr5:100439627-100439628	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188466961	chr5:100439635-100439636	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs529975124	chr5:100439648-100439649	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs13164747	chr5:100439703-100439704	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531126021	chr5:100439704-100439705	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs375957145	chr5:100439754-100439755	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552356249	chr5:100439838-100439839	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs571792067	chr5:100439901-100439902	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs78743636	chr5:100439908-100439909	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551029523	chr5:100439909-100439910	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs569254251	chr5:100439926-100439927	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192917725	chr5:100439929-100439930	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs369224231	chr5:100439938-100439939	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184751321	chr5:100439939-100439940	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567010810	chr5:100440001-100440002	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs534407231	chr5:100440048-100440049	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188075860	chr5:100440062-100440063	Weak transcription Active TSS	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
Prostate cancer	19363497	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100436400-100438400	Enhancers	A549	lung
2	chr5:100437600-100438400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:100437600-100438600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:100437800-100441600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100438200-100438600	Enhancers	NHEK	skin
6	chr5:100438400-100439400	Flanking Active TSS	A549	lung
7	chr5:100439400-100440200	Active TSS	A549	lung
8	chr5:100440200-100440400	Flanking Active TSS	A549	lung
9	chr5:100440400-100440600	Enhancers	A549	lung
10	chr5:100440600-100441600	Weak transcription	A549	lung
11	chr5:100441600-100442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:100441600-100442000	Enhancers	A549	lung
13	chr5:100442000-100443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:100443000-100443200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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