Variant report

Variant	nsv594933
Chromosome Location	chr4:98569259-98707046
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:98588787..98591250-chr4:98592135..98594195,2	MCF-7	breast:
2	chr4:98600978..98604672-chr4:98609268..98612042,3	MCF-7	breast:
3	chr4:97091475..97092009-chr4:98641981..98642501,2	MCF-7	breast:
4	chr4:98687863..98690416-chr4:98692655..98695152,2	MCF-7	breast:
5	chr4:98588787..98591250-chr4:98592135..98594195,2	MCF-7	breast:
6	chr4:98562115..98565020-chr4:98567699..98570313,2	MCF-7	breast:
7	chr4:98576156..98578566-chr4:98579040..98581603,2	MCF-7	breast:
8	chr4:98641928..98642827-chr4:98905748..98906362,2	MCF-7	breast:
9	chr4:98687863..98690416-chr4:98692655..98695152,2	MCF-7	breast:
10	chr4:98576156..98578566-chr4:98579040..98581603,2	MCF-7	breast:
11	chr4:98600978..98604672-chr4:98609268..98612042,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN5-3	chr4:98633850-98633965	NONHSAT097477

No data

Extended variants
information (count: 1561 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1561 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11097565	chr4:98569259-98569260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570514204	chr4:98569277-98569278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138597937	chr4:98569364-98569365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556161403	chr4:98569366-98569367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370307471	chr4:98569397-98569398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112612036	chr4:98572816-98572817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184342287	chr4:98572824-98572825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538990715	chr4:98572851-98572852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557393917	chr4:98572906-98572907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540731128	chr4:98572922-98572923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145179797	chr4:98573090-98573091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543322449	chr4:98573097-98573098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554851361	chr4:98573119-98573120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375366915	chr4:98573134-98573135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573415823	chr4:98573186-98573187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540768483	chr4:98573208-98573209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10003706	chr4:98573238-98573239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189168466	chr4:98573274-98573275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550730064	chr4:98573285-98573286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1508463	chr4:98573286-98573287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149129201	chr4:98573354-98573355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530698511	chr4:98573479-98573480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112787467	chr4:98573482-98573483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567345785	chr4:98573491-98573492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528329013	chr4:98573551-98573552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546485101	chr4:98573574-98573575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571719598	chr4:98573613-98573614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568363572	chr4:98573616-98573617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199729676	chr4:98573623-98573624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377359195	chr4:98573726-98573727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539155949	chr4:98573751-98573752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143300873	chr4:98573838-98573839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192558820	chr4:98573875-98573876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148314599	chr4:98573877-98573878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555293391	chr4:98573907-98573908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72890900	chr4:98573934-98573935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs13138311	chr4:98573967-98573968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115974996	chr4:98573979-98573980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13138158	chr4:98573990-98573991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183523593	chr4:98573991-98573992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13114159	chr4:98574000-98574001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577291570	chr4:98574016-98574017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544737060	chr4:98574088-98574089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75582716	chr4:98574109-98574110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141376895	chr4:98574130-98574131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542546313	chr4:98574132-98574133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534553693	chr4:98574148-98574149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368377756	chr4:98574245-98574246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528378907	chr4:98574247-98574248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148944874	chr4:98574263-98574264	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98568800-98569400	Enhancers	Fetal Muscle Leg	muscle
2	chr4:98572800-98573200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:98573200-98574200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:98574200-98574400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:98574400-98574800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:98574800-98575200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:98574800-98575200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:98575000-98575200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:98575200-98585200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:98575400-98577600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:98576200-98577800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:98576400-98577800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:98576400-98577800	Enhancers	NHEK	skin
14	chr4:98576600-98577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:98576600-98577800	Enhancers	HMEC	breast
16	chr4:98576800-98577600	Enhancers	A549	lung
17	chr4:98576800-98577800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:98576800-98577800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:98577200-98577600	Enhancers	NH-A	brain
20	chr4:98577200-98577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:98577400-98577800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:98579800-98586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:98585200-98585400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr4:98586000-98587200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:98586200-98587400	ZNF genes & repeats	Dnd41	blood
26	chr4:98586400-98587000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:98586400-98587200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:98586400-98587400	ZNF genes & repeats	Liver	Liver
29	chr4:98586600-98587400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:98586800-98587200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:98586800-98587200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:98587400-98589400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:98593800-98594000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:98594200-98595200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:98595200-98595800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:98596600-98597000	Enhancers	Fetal Brain Male	brain
37	chr4:98607400-98607800	Active TSS	A549	lung
38	chr4:98612000-98613200	Enhancers	Dnd41	blood
39	chr4:98640800-98642000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr4:98641200-98642400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:98641400-98642600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:98641600-98642200	Enhancers	Fetal Intestine Small	intestine
43	chr4:98641600-98642600	Enhancers	Dnd41	blood
44	chr4:98641600-98643800	Enhancers	HUVEC	blood vessel
45	chr4:98641800-98642000	Enhancers	Brain Hippocampus Middle	brain
46	chr4:98642000-98642400	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr4:98642000-98642600	Enhancers	Brain Angular Gyrus	brain
48	chr4:98642000-98642800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr4:98642200-98642600	Enhancers	Brain Anterior Caudate	brain
50	chr4:98642200-98642600	Enhancers	Brain Inferior Temporal Lobe	brain

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