Variant report

Variant	nsv515925
Chromosome Location	chr4:87142248-87165758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87140077..87142353-chr4:87143339..87145832,2	MCF-7	breast:
2	chr4:86964897..86966021-chr4:87144762..87145373,4	MCF-7	breast:
3	chr4:87155810..87157593-chr4:87170077..87172350,2	K562	blood:
4	chr4:87140077..87142353-chr4:87143339..87145832,2	MCF-7	breast:

Extended variants
information (count: 849 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1460769	chr4:87142248-87142249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77110629	chr4:87142251-87142252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111649853	chr4:87142258-87142259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2869421	chr4:87142271-87142272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187049131	chr4:87142279-87142280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116803455	chr4:87142301-87142302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148705664	chr4:87142310-87142311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546847622	chr4:87142319-87142320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141474973	chr4:87142337-87142338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373656259	chr4:87142369-87142370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150849310	chr4:87142401-87142402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370434149	chr4:87142418-87142419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367708943	chr4:87142456-87142457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191969445	chr4:87142633-87142634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs5860022	chr4:87142634-87142635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547334153	chr4:87142636-87142637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539912374	chr4:87142645-87142646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181489797	chr4:87142694-87142695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534934055	chr4:87142732-87142733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139731525	chr4:87142743-87142744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574764290	chr4:87142802-87142803	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563542504	chr4:87142808-87142809	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368232095	chr4:87142809-87142810	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542081217	chr4:87142871-87142872	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569621635	chr4:87142879-87142880	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10009161	chr4:87142882-87142883	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575295892	chr4:87142902-87142903	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144381056	chr4:87142931-87142932	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563932079	chr4:87142951-87142952	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116941054	chr4:87142998-87142999	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76937670	chr4:87143069-87143070	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10019871	chr4:87143096-87143097	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115574670	chr4:87143115-87143116	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186607778	chr4:87143117-87143118	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569387653	chr4:87143124-87143125	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190215361	chr4:87143126-87143127	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569581644	chr4:87143162-87143163	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9997633	chr4:87143168-87143169	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566775595	chr4:87143187-87143188	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534215467	chr4:87143223-87143224	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79550807	chr4:87143266-87143267	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74667629	chr4:87143270-87143271	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77099823	chr4:87143272-87143273	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77646817	chr4:87143290-87143291	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6810953	chr4:87143297-87143298	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376414380	chr4:87143310-87143311	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568407327	chr4:87143356-87143357	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182387604	chr4:87143378-87143379	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556877967	chr4:87143412-87143413	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6810839	chr4:87143435-87143436	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87140000-87143000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:87140000-87143600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:87140400-87148600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:87140600-87146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:87141000-87143400	Enhancers	Hela-S3	cervix
6	chr4:87141200-87142400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:87141600-87142400	Enhancers	A549	lung
8	chr4:87141800-87142600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:87142000-87146200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:87142200-87142400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr4:87142200-87142600	Enhancers	Fetal Stomach	stomach
12	chr4:87142400-87142600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:87142400-87143400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:87142400-87143600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:87142400-87144600	Weak transcription	A549	lung
16	chr4:87142600-87142800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:87142600-87157800	Weak transcription	Fetal Stomach	stomach
18	chr4:87142800-87145200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:87143000-87143400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:87143000-87154000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:87143400-87144000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:87143400-87144000	Weak transcription	Hela-S3	cervix
23	chr4:87143600-87143800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:87143600-87144800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:87144000-87144200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:87144000-87144200	Enhancers	Hela-S3	cervix
27	chr4:87144000-87154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:87144600-87145200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:87145000-87145200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:87145000-87145200	Enhancers	A549	lung
31	chr4:87145200-87147800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:87145200-87149000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:87145200-87154600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:87146200-87146600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:87147400-87148000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr4:87147800-87149800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:87148000-87154000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:87148600-87149800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:87149000-87149200	Enhancers	Ovary	ovary
40	chr4:87149000-87149600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:87149000-87149800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr4:87149200-87149400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:87149200-87149600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:87149200-87186200	Weak transcription	Ovary	ovary
45	chr4:87149400-87154800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:87149800-87151800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:87151000-87154000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:87152800-87154400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:87153000-87155000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:87153200-87165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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