Variant report

Variant	nsv522908
Chromosome Location	chr5:100309166-100340406
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	chr1:149222329..149224621-chr5:100319591..100321091,2	K562	blood:

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 404 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2216614	chr5:100309166-100309167	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540815140	chr5:100309184-100309185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs532724137	chr5:100318628-100318629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111471676	chr5:100318637-100318638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183200562	chr5:100318638-100318639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541048699	chr5:100318691-100318692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3940391	chr5:100318715-100318716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2400308	chr5:100318718-100318719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs187771335	chr5:100318724-100318725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3940390	chr5:100318730-100318731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3940389	chr5:100318784-100318785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35979964	chr5:100318790-100318791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200893159	chr5:100318794-100318795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371075031	chr5:100318802-100318803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530028414	chr5:100318805-100318806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533561820	chr5:100318811-100318812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551782474	chr5:100318888-100318889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117673739	chr5:100318900-100318901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556419254	chr5:100318901-100318902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530395876	chr5:100318905-100318906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116356944	chr5:100318907-100318908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535604671	chr5:100318977-100318978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142116456	chr5:100318997-100318998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540710668	chr5:100319023-100319024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558717187	chr5:100319028-100319029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577162683	chr5:100319092-100319093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531048966	chr5:100319112-100319113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191924418	chr5:100319130-100319131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369361186	chr5:100319176-100319177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150870863	chr5:100319177-100319178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541989905	chr5:100319199-100319200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571083266	chr5:100319210-100319211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182936857	chr5:100319231-100319232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186903655	chr5:100319244-100319245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192644972	chr5:100319263-100319264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570399161	chr5:100319296-100319297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531290529	chr5:100319307-100319308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549817428	chr5:100319309-100319310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528751207	chr5:100319329-100319330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535669993	chr5:100319363-100319364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111368782	chr5:100319367-100319368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565866669	chr5:100319385-100319386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139367922	chr5:100319404-100319405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56250756	chr5:100319409-100319410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577175783	chr5:100319412-100319413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544558151	chr5:100319466-100319467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532232933	chr5:100319472-100319473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556598603	chr5:100319495-100319496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574818791	chr5:100319496-100319497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146643064	chr5:100319524-100319525	Enhancers Weak transcription	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100307400-100309200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100318600-100319400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:100318600-100320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:100319400-100322800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:100319600-100319800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:100322800-100326200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:100335400-100336400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:100339400-100340400	Enhancers	Dnd41	blood

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