Variant report

Variant	nsv462375
Chromosome Location	chr5:105949415-105999196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:105971307..105972912-chr5:105974720..105977019,2	MCF-7	breast:
2	chr5:105971307..105972912-chr5:105974720..105977019,2	MCF-7	breast:
3	chr5:105982713..105983578-chr7:143652953..143653920,2	MCF-7	breast:

Extended variants
information (count: 550 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534391354	chr5:105949647-105949648	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189402784	chr5:105949663-105949664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577478630	chr5:105949690-105949691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs539719179	chr5:105949769-105949770	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536577850	chr5:105949790-105949791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548467674	chr5:105949800-105949801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576304520	chr5:105949804-105949805	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs140530825	chr5:105949819-105949820	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556128660	chr5:105949865-105949866	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs554265368	chr5:105949866-105949867	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs1978836	chr5:105949869-105949870	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558691155	chr5:105949872-105949873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575757862	chr5:105949897-105949898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs1978835	chr5:105949927-105949928	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs572149404	chr5:105949951-105949952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541262102	chr5:105949952-105949953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs367904107	chr5:105949992-105949993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs143704442	chr5:105950038-105950039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs558640554	chr5:105950051-105950052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs577036644	chr5:105950054-105950055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563589793	chr5:105950062-105950063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372066282	chr5:105950092-105950093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184883386	chr5:105950163-105950164	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548154871	chr5:105950164-105950165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145749979	chr5:105950212-105950213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376387260	chr5:105950231-105950232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189398032	chr5:105950262-105950263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570913091	chr5:105950290-105950291	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs78536297	chr5:105950323-105950324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541234367	chr5:105950362-105950363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs188928206	chr5:105952207-105952208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192702349	chr5:105952268-105952269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150826621	chr5:105952283-105952284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184157613	chr5:105952286-105952287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540190095	chr5:105952315-105952316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202190058	chr5:105952343-105952344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138877894	chr5:105952385-105952386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541101687	chr5:105952437-105952438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559994100	chr5:105952518-105952519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77488673	chr5:105952528-105952529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549151780	chr5:105952532-105952533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543856900	chr5:105952540-105952541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113226297	chr5:105952652-105952653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529557753	chr5:105952659-105952660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549576304	chr5:105952670-105952671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575019213	chr5:105952672-105952673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560121723	chr5:105952706-105952707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191573333	chr5:105952798-105952799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190038381	chr5:105969222-105969223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182306894	chr5:105969248-105969249	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105949600-105950400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr5:105952200-105952800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:105969200-105969600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:105969600-105970000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:105969800-105970600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:105969800-105970600	Enhancers	HUVEC	blood vessel
7	chr5:105970600-105972400	Weak transcription	HUVEC	blood vessel
8	chr5:105972400-105973200	Enhancers	HUVEC	blood vessel
9	chr5:105983800-105986400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:105984000-105984600	Enhancers	Brain Substantia Nigra	brain
11	chr5:105984200-105985400	Enhancers	Brain Angular Gyrus	brain
12	chr5:105984200-105986200	Enhancers	Brain Hippocampus Middle	brain
13	chr5:105984400-105984600	Enhancers	Brain Anterior Caudate	brain
14	chr5:105984400-105985000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:105984400-105986400	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:105984600-105985400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:105984600-105985400	Weak transcription	Brain Substantia Nigra	brain
18	chr5:105985400-105985600	Enhancers	Brain Substantia Nigra	brain
19	chr5:105985400-105986400	Weak transcription	Brain Angular Gyrus	brain
20	chr5:105985400-105986600	Enhancers	Brain Anterior Caudate	brain
21	chr5:105985600-105986400	Weak transcription	Brain Substantia Nigra	brain
22	chr5:105986400-105986600	Enhancers	Brain Angular Gyrus	brain
23	chr5:105986400-105986600	Enhancers	Brain Substantia Nigra	brain
24	chr5:105990000-105990400	Active TSS	Liver	Liver
25	chr5:105992200-105992600	Enhancers	Brain Substantia Nigra	brain
26	chr5:105992200-105992800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:105992200-105993000	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:105993600-105994000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:105993600-105994600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:105994800-105995200	Enhancers	HUVEC	blood vessel
31	chr5:105995000-105995800	Enhancers	Adipose Nuclei	Adipose
32	chr5:105995600-105997000	Enhancers	Fetal Lung	lung
33	chr5:105995800-105997400	Weak transcription	Adipose Nuclei	Adipose
34	chr5:105996600-105997200	Enhancers	Ovary	ovary
35	chr5:105997000-105997400	Weak transcription	Fetal Lung	lung
36	chr5:105997400-105997800	Enhancers	Adipose Nuclei	Adipose
37	chr5:105997400-105998200	Enhancers	Fetal Lung	lung

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