Variant report

Variant	nsv968065
Chromosome Location	chr4:87528229-87536585
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87530294..87531963-chr4:87533296..87535743,2	K562	blood:
2	chr4:87526249..87528781-chr4:87528891..87530850,2	MCF-7	breast:
3	chr4:87530294..87531963-chr4:87533296..87535743,2	K562	blood:
4	chr4:87481451..87483202-chr4:87532633..87534262,2	MCF-7	breast:
5	chr4:87526249..87528781-chr4:87528891..87530850,2	MCF-7	breast:
6	chr4:87530490..87533389-chr4:87533491..87536660,3	MCF-7	breast:
7	chr4:87530490..87533389-chr4:87533491..87536660,3	MCF-7	breast:
8	chr4:87534871..87536613-chr4:87547091..87549143,2	K562	blood:

No data

Extended variants
information (count: 268 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546897955	chr4:87528233-87528234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559470303	chr4:87528240-87528241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530130853	chr4:87528310-87528311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183498459	chr4:87528317-87528318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570165910	chr4:87528348-87528349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531085423	chr4:87528350-87528351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574712726	chr4:87528393-87528394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535397798	chr4:87528514-87528515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552486444	chr4:87528538-87528539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74952880	chr4:87528585-87528586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61391256	chr4:87528615-87528616	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538190552	chr4:87528638-87528639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567931056	chr4:87528640-87528641	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140233952	chr4:87528643-87528644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187189416	chr4:87528683-87528684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145669459	chr4:87528731-87528732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10031843	chr4:87528766-87528767	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190141260	chr4:87528798-87528799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575166283	chr4:87528800-87528801	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182356542	chr4:87528812-87528813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369055032	chr4:87528823-87528824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80184743	chr4:87528841-87528842	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186742642	chr4:87528922-87528923	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577561227	chr4:87528924-87528925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150680235	chr4:87528927-87528928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201699362	chr4:87528977-87528978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546085059	chr4:87529007-87529008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35306557	chr4:87529010-87529011	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs193284288	chr4:87529011-87529012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78679570	chr4:87529013-87529014	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10470882	chr4:87529014-87529015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546951392	chr4:87529055-87529056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61277444	chr4:87529078-87529079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535045986	chr4:87529104-87529105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139472992	chr4:87529114-87529115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568537198	chr4:87529117-87529118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539128125	chr4:87529121-87529122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72870632	chr4:87529242-87529243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572921007	chr4:87529246-87529247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34391315	chr4:87529308-87529309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1383992	chr4:87529410-87529411	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185508445	chr4:87529480-87529481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372954429	chr4:87529512-87529513	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112022121	chr4:87529526-87529527	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188884711	chr4:87529529-87529530	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72870634	chr4:87529530-87529531	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530962937	chr4:87529537-87529538	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148424116	chr4:87529627-87529628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372667831	chr4:87529713-87529714	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79290198	chr4:87529722-87529723	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
lymphocytic leukemia	21291569	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
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87517000-87536600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:87517200-87529800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:87519000-87529200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:87519000-87530000	Weak transcription	Osteobl	bone
5	chr4:87519400-87529600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:87519600-87529800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:87520200-87528600	Weak transcription	Ovary	ovary
8	chr4:87521400-87532800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:87521400-87546800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:87521800-87535200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:87521800-87536000	Weak transcription	Fetal Kidney	kidney
12	chr4:87523400-87528600	Weak transcription	Brain Substantia Nigra	brain
13	chr4:87523600-87528600	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:87523600-87528800	Weak transcription	Brain Anterior Caudate	brain
15	chr4:87524200-87529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:87524200-87531800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:87524200-87540800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:87525600-87540200	Weak transcription	NHEK	skin
19	chr4:87525800-87532600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:87526200-87531800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:87526400-87529800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:87526600-87529800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:87526600-87529800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:87526600-87530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:87526600-87531000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:87526600-87532000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:87526600-87532600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:87526600-87537400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:87526800-87529400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:87526800-87529800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:87527600-87528600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:87527600-87529000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:87528600-87528800	Enhancers	Brain Substantia Nigra	brain
34	chr4:87528600-87528800	Enhancers	Ovary	ovary
35	chr4:87528600-87529000	Enhancers	Brain Angular Gyrus	brain
36	chr4:87528600-87529000	Enhancers	Brain Cingulate Gyrus	brain
37	chr4:87528600-87530200	Enhancers	Brain Hippocampus Middle	brain
38	chr4:87528800-87529000	Weak transcription	Ovary	ovary
39	chr4:87528800-87529400	Weak transcription	Brain Substantia Nigra	brain
40	chr4:87528800-87529800	Enhancers	Brain Anterior Caudate	brain
41	chr4:87529000-87530000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:87529000-87532200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:87529000-87532400	Weak transcription	Brain Angular Gyrus	brain
44	chr4:87529200-87531000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:87529400-87529800	Enhancers	Brain Substantia Nigra	brain
46	chr4:87529400-87530200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:87529600-87530600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr4:87529800-87530000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:87529800-87530200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:87529800-87530200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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