Variant report

Variant	nsv521719
Chromosome Location	chr5:101241278-101273651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4703197	chr5:101241278-101241279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150544838	chr5:101241333-101241334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532538311	chr5:101241340-101241341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377710619	chr5:101241341-101241342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17325968	chr5:101241351-101241352	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35794627	chr5:101241352-101241353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114707341	chr5:101241388-101241389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183923272	chr5:101241425-101241426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139496728	chr5:101241438-101241439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77849690	chr5:101241470-101241471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547625956	chr5:101241501-101241502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565346000	chr5:101241525-101241526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188660631	chr5:101241526-101241527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551108911	chr5:101241586-101241587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67714679	chr5:101241592-101241593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115530943	chr5:101241595-101241596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115039180	chr5:101241613-101241614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568592731	chr5:101241629-101241630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564847856	chr5:101241644-101241645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191274805	chr5:101241652-101241653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143819060	chr5:101241660-101241661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75903304	chr5:101241661-101241662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572516760	chr5:101241715-101241716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546194776	chr5:101241721-101241722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558315662	chr5:101241799-101241800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58330681	chr5:101241845-101241846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543872953	chr5:101241938-101241939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561738407	chr5:101241950-101241951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36069752	chr5:101241969-101241970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573742287	chr5:101241976-101241977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111802912	chr5:101250636-101250637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570521439	chr5:101250703-101250704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140857642	chr5:101250716-101250717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374035283	chr5:101250717-101250718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534763231	chr5:101250724-101250725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56358829	chr5:101250728-101250729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373050317	chr5:101250732-101250733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538963055	chr5:101250733-101250734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556971834	chr5:101250744-101250745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115657562	chr5:101250804-101250805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74600424	chr5:101250816-101250817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75359382	chr5:101250868-101250869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572996538	chr5:101250869-101250870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150089804	chr5:101250872-101250873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192633911	chr5:101250921-101250922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184528921	chr5:101250963-101250964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77372998	chr5:101250990-101250991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138410221	chr5:101250996-101250997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563810090	chr5:101251009-101251010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547910194	chr5:101251065-101251066	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
Bipolar disorder	19114987	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101237600-101241400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:101239200-101242000	Weak transcription	Aorta	Aorta
3	chr5:101240400-101241400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:101250600-101250800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:101250600-101251400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:101250600-101251400	Enhancers	Brain Germinal Matrix	brain
7	chr5:101250800-101251200	Enhancers	Colon Smooth Muscle	Colon
8	chr5:101251000-101251400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:101251000-101251800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:101251200-101251400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:101251200-101251600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:101251200-101251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:101251400-101251600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:101251400-101251800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:101251400-101252000	Active TSS	A549	lung
16	chr5:101251800-101252000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:101264400-101264800	Enhancers	Colon Smooth Muscle	Colon
18	chr5:101265200-101266000	Enhancers	Rectal Smooth Muscle	rectum

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