Variant report

Variant	nsv4915
Chromosome Location	chr5:91836073-91876327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:91847403..91850358-chr5:91853737..91855883,2	MCF-7	breast:
2	chr5:91604939..91605782-chr5:91838804..91839362,2	MCF-7	breast:
3	chr5:91847403..91850358-chr5:91853737..91855883,2	MCF-7	breast:
4	chr5:91853989..91854741-chr5:92173857..92174425,2	MCF-7	breast:
5	chr5:91853947..91854674-chr5:92173947..92174546,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM172A-7	chr5:91843055-91843172	XLOC_004925
2	lnc-FAM172A-7	chr5:91843055-91843172	XLOC_004925

No data

Extended variants
information (count: 1056 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1056 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75176217	chr5:91836616-91836617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528757258	chr5:91836632-91836633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567162186	chr5:91836650-91836651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11953992	chr5:91836681-91836682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370561565	chr5:91836683-91836684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143827470	chr5:91836691-91836692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559709020	chr5:91836745-91836746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73771430	chr5:91836869-91836870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192907770	chr5:91836872-91836873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116077804	chr5:91836893-91836894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530142022	chr5:91836908-91836909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147279552	chr5:91836942-91836943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111974825	chr5:91836957-91836958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570143546	chr5:91836990-91836991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6556837	chr5:91837018-91837019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537068419	chr5:91837071-91837072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558803116	chr5:91837073-91837074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566067636	chr5:91837135-91837136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534286303	chr5:91837142-91837143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148739114	chr5:91837154-91837155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574432016	chr5:91837244-91837245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77521219	chr5:91837276-91837277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557064269	chr5:91837277-91837278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150884624	chr5:91837285-91837286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375962647	chr5:91837323-91837324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139335603	chr5:91837379-91837380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573195578	chr5:91837388-91837389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114474787	chr5:91837425-91837426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561136838	chr5:91837434-91837435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530150876	chr5:91837450-91837451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550005848	chr5:91837496-91837497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150064237	chr5:91837517-91837518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532582852	chr5:91837585-91837586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182728372	chr5:91837603-91837604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556086827	chr5:91837606-91837607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146633146	chr5:91837660-91837661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78124411	chr5:91837677-91837678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576265511	chr5:91837687-91837688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139143143	chr5:91837764-91837765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537078207	chr5:91837794-91837795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556761763	chr5:91837943-91837944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187804169	chr5:91837967-91837968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539614205	chr5:91837969-91837970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567633863	chr5:91837972-91837973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368306547	chr5:91837993-91837994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115971840	chr5:91838068-91838069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573136459	chr5:91838086-91838087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs70975824	chr5:91838094-91838095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554015527	chr5:91838118-91838119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57939628	chr5:91838121-91838122	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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91836600-91841600	Weak transcription	Fetal Lung	lung
2	chr5:91838600-91841400	Weak transcription	Ovary	ovary
3	chr5:91840000-91840200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:91840000-91842200	Enhancers	HUVEC	blood vessel
5	chr5:91840200-91840400	Enhancers	A549	lung
6	chr5:91840200-91841000	Enhancers	HMEC	breast
7	chr5:91840200-91841600	Enhancers	Dnd41	blood
8	chr5:91840200-91844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:91840400-91841400	Weak transcription	A549	lung
10	chr5:91840400-91841800	Enhancers	Hela-S3	cervix
11	chr5:91840600-91841000	Enhancers	NHLF	lung
12	chr5:91840600-91841800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:91840800-91841200	Enhancers	NHDF-Ad	bronchial
14	chr5:91840800-91841800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:91840800-91841800	Active TSS	Osteobl	bone
16	chr5:91841000-91841600	Weak transcription	NHLF	lung
17	chr5:91841200-91841400	Weak transcription	NHDF-Ad	bronchial
18	chr5:91841200-91842200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:91841400-91841600	Enhancers	Liver	Liver
20	chr5:91841400-91841600	Flanking Active TSS	A549	lung
21	chr5:91841400-91841800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:91841400-91841800	Active TSS	Ovary	ovary
23	chr5:91841400-91841800	Active TSS	Stomach Smooth Muscle	stomach
24	chr5:91841400-91842000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:91841400-91842000	Active TSS	HepG2	liver
26	chr5:91841400-91842000	Active TSS	NHDF-Ad	bronchial
27	chr5:91841400-91842200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:91841600-91841800	Enhancers	Fetal Lung	lung
29	chr5:91841600-91842000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:91841600-91842000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:91841600-91842000	Flanking Active TSS	Liver	Liver
32	chr5:91841600-91842000	Active TSS	A549	lung
33	chr5:91841600-91842200	Flanking Active TSS	Dnd41	blood
34	chr5:91841600-91842200	Active TSS	NHLF	lung
35	chr5:91841800-91842200	Enhancers	Osteobl	bone
36	chr5:91842000-91842200	Enhancers	NHDF-Ad	bronchial
37	chr5:91842000-91842400	Enhancers	Liver	Liver
38	chr5:91842200-91842400	Enhancers	Dnd41	blood
39	chr5:91842400-91843000	Weak transcription	Liver	Liver
40	chr5:91843000-91843200	Enhancers	Liver	Liver
41	chr5:91844000-91845000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:91844600-91845800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr5:91845000-91846000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:91845400-91845800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr5:91846800-91847200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:91847200-91848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:91848000-91849600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:91848400-91849600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:91849000-91849200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr5:91849200-91849400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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