Variant report

Variant	nsv508370
Chromosome Location	chr5:92539782-92575241
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	chr5:92572759..92575011-chr5:92577902..92579568,2	MCF-7	breast:
2	chr5:92543556..92544227-chr7:71193668..71194371,2	MCF-7	breast:

Extended variants
information (count: 719 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556224930	chr5:92540628-92540629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139645162	chr5:92540665-92540666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145319488	chr5:92540701-92540702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558393690	chr5:92540707-92540708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147641265	chr5:92540726-92540727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78109197	chr5:92540757-92540758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557354362	chr5:92540809-92540810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185904649	chr5:92540821-92540822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191268716	chr5:92540847-92540848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566722912	chr5:92540865-92540866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78839822	chr5:92540877-92540878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563204991	chr5:92540888-92540889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183131867	chr5:92540905-92540906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187905826	chr5:92540909-92540910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376058348	chr5:92540911-92540912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs137955242	chr5:92540972-92540973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191131805	chr5:92541021-92541022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113394412	chr5:92541041-92541042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187909873	chr5:92541053-92541054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530454009	chr5:92541068-92541069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550511238	chr5:92541123-92541124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570303158	chr5:92541125-92541126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538261573	chr5:92541147-92541148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140564302	chr5:92541214-92541215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149774974	chr5:92541248-92541249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534389407	chr5:92541290-92541291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201747688	chr5:92541304-92541305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114858292	chr5:92541334-92541335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574305777	chr5:92541335-92541336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536819855	chr5:92541358-92541359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145692145	chr5:92541359-92541360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577024414	chr5:92541494-92541495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545112838	chr5:92541511-92541512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192316507	chr5:92541529-92541530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11747478	chr5:92541534-92541535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73129341	chr5:92541622-92541623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561334281	chr5:92541653-92541654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530341638	chr5:92541693-92541694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550352721	chr5:92541758-92541759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563838416	chr5:92541784-92541785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184419829	chr5:92541801-92541802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551935919	chr5:92541808-92541809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557083583	chr5:92541859-92541860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534282226	chr5:92541910-92541911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547901666	chr5:92541967-92541968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188534798	chr5:92541985-92541986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192877930	chr5:92542008-92542009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12657810	chr5:92542025-92542026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148961089	chr5:92542035-92542036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577110183	chr5:92542038-92542039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Esophageal adenocarcinoma	18519675	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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92539400-92539800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:92540600-92541000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:92540800-92541400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:92541400-92545400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:92542400-92543800	Enhancers	Fetal Stomach	stomach
6	chr5:92542800-92543000	Enhancers	Fetal Kidney	kidney
7	chr5:92542800-92543000	Enhancers	NHDF-Ad	bronchial
8	chr5:92543000-92543400	Enhancers	Adipose Nuclei	Adipose
9	chr5:92543000-92543600	Weak transcription	NHDF-Ad	bronchial
10	chr5:92543000-92544200	Weak transcription	Fetal Kidney	kidney
11	chr5:92543400-92545200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:92543400-92545800	Enhancers	Fetal Lung	lung
13	chr5:92543600-92544400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:92543600-92545000	Enhancers	NHDF-Ad	bronchial
15	chr5:92543800-92544200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:92543800-92544200	Weak transcription	Fetal Stomach	stomach
17	chr5:92544000-92544800	Enhancers	Colon Smooth Muscle	Colon
18	chr5:92544000-92545800	Enhancers	Ovary	ovary
19	chr5:92544200-92545200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:92544200-92545400	Enhancers	Fetal Kidney	kidney
21	chr5:92544200-92545600	Enhancers	Fetal Stomach	stomach
22	chr5:92544400-92545600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:92544400-92545800	Enhancers	Fetal Muscle Leg	muscle
24	chr5:92544600-92545000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:92544600-92545000	Enhancers	Fetal Muscle Trunk	muscle
26	chr5:92544600-92545200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:92544600-92545600	Enhancers	Placenta	Placenta
28	chr5:92544600-92545800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:92544800-92545600	Enhancers	Spleen	Spleen
30	chr5:92545200-92545400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:92545200-92545600	Enhancers	Fetal Brain Male	brain
32	chr5:92545400-92545800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:92545400-92545800	Enhancers	Brain Anterior Caudate	brain
34	chr5:92545800-92546600	Weak transcription	Ovary	ovary
35	chr5:92545800-92548600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:92546600-92546800	Enhancers	Ovary	ovary
37	chr5:92548600-92549200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr5:92548600-92549400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:92548600-92549400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr5:92548800-92549200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr5:92555000-92556400	Enhancers	Fetal Stomach	stomach
42	chr5:92555200-92555800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:92555200-92556400	Enhancers	Fetal Lung	lung
44	chr5:92555400-92555600	Enhancers	Fetal Muscle Leg	muscle
45	chr5:92555400-92555800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:92555400-92555800	Enhancers	Ovary	ovary
47	chr5:92555600-92557000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:92555800-92556200	Enhancers	Fetal Brain Male	brain
49	chr5:92555800-92561600	Weak transcription	Ovary	ovary
50	chr5:92556000-92556600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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