Variant report

Variant	nsv599209
Chromosome Location	chr5:103668818-103712096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:103677480..103679978-chr5:103685994..103688346,2	K562	blood:
2	chr5:103662029..103663844-chr5:103689569..103691158,2	MCF-7	breast:
3	chr5:75897144..75897771-chr5:103707251..103707772,2	MCF-7	breast:
4	chr5:103541472..103544045-chr5:103667629..103669884,2	K562	blood:
5	chr5:103677480..103679978-chr5:103685994..103688346,2	K562	blood:

Extended variants
information (count: 941 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:941 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574152997	chr5:103674209-103674210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543200960	chr5:103674222-103674223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191405351	chr5:103674244-103674245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143450059	chr5:103674260-103674261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571794885	chr5:103674271-103674272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540655936	chr5:103674326-103674327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563762758	chr5:103674345-103674346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546673514	chr5:103674381-103674382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185062585	chr5:103674384-103674385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148153949	chr5:103674397-103674398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188806807	chr5:103674401-103674402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529123210	chr5:103674446-103674447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549145589	chr5:103674529-103674530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193205308	chr5:103674588-103674589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76618536	chr5:103674598-103674599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551863553	chr5:103674616-103674617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571676040	chr5:103674627-103674628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185265084	chr5:103674632-103674633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190111307	chr5:103674691-103674692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77319884	chr5:103674721-103674722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536483062	chr5:103674759-103674760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553131521	chr5:103674762-103674763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367617567	chr5:103674774-103674775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150703138	chr5:103674783-103674784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181315861	chr5:103674795-103674796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183908189	chr5:103674819-103674820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370560318	chr5:103674831-103674832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116505341	chr5:103674887-103674888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543404277	chr5:103674916-103674917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563476390	chr5:103674924-103674925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552017303	chr5:103674938-103674939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542529464	chr5:103674955-103674956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559602299	chr5:103674970-103674971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75468691	chr5:103675000-103675001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188340235	chr5:103675007-103675008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571763687	chr5:103675010-103675011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563238641	chr5:103675019-103675020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530848188	chr5:103675029-103675030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576341345	chr5:103675035-103675036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80040820	chr5:103675063-103675064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368445687	chr5:103675122-103675123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567895336	chr5:103675137-103675138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180807761	chr5:103675139-103675140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546857812	chr5:103675147-103675148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539621356	chr5:103675176-103675177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185928087	chr5:103675202-103675203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2921502	chr5:103675207-103675208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191978257	chr5:103675248-103675249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577657882	chr5:103675319-103675320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182246238	chr5:103675410-103675411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
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
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
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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103674200-103675000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:103674600-103674800	Enhancers	Fetal Lung	lung
3	chr5:103674800-103675800	Weak transcription	Fetal Lung	lung
4	chr5:103675000-103676600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:103675000-103678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:103675200-103676200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:103675200-103676400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:103675200-103676600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:103675600-103676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:103675600-103676400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:103675600-103676600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:103675800-103676200	Enhancers	Fetal Lung	lung
13	chr5:103675800-103676600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:103676000-103676600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:103676200-103680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:103676200-103681000	Weak transcription	Fetal Lung	lung
17	chr5:103676600-103680600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:103676600-103680800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:103676600-103684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:103677600-103677800	Enhancers	Gastric	stomach
21	chr5:103678600-103679400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:103679400-103680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:103680000-103680800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:103680200-103680800	Enhancers	NH-A	brain
25	chr5:103680400-103681000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:103680600-103680800	Enhancers	HMEC	breast
27	chr5:103680600-103680800	Active TSS	HUVEC	blood vessel
28	chr5:103680600-103681000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:103680600-103681600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:103680600-103681600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:103680600-103681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:103680800-103681000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:103680800-103681000	Enhancers	HUVEC	blood vessel
34	chr5:103680800-103681000	Active TSS	Osteobl	bone
35	chr5:103680800-103681200	Flanking Active TSS	HMEC	breast
36	chr5:103680800-103681600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:103680800-103681600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:103680800-103681600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:103680800-103681600	Flanking Active TSS	NH-A	brain
40	chr5:103681000-103681200	Flanking Active TSS	HUVEC	blood vessel
41	chr5:103681000-103681400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:103681000-103681400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:103681000-103681400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:103681000-103681400	Active TSS	Brain Anterior Caudate	brain
45	chr5:103681000-103681600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:103681000-103681600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:103681000-103681600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr5:103681000-103681600	Enhancers	Brain Hippocampus Middle	brain
49	chr5:103681000-103681600	Enhancers	Fetal Lung	lung
50	chr5:103681000-103681600	Enhancers	HSMMtube	muscle

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