Variant report

Variant	esv3465632
Chromosome Location	chr4:86976361-86979956
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	chr4:86974348..86976679-chr4:86978244..86980026,2	MCF-7	breast:
2	chr4:86974348..86976679-chr4:86978244..86980026,2	MCF-7	breast:

Extended variants
information (count: 117 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202119785	chr4:86976377-86976378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567615331	chr4:86976382-86976383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183723220	chr4:86976389-86976390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1898249	chr4:86976413-86976414	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571739870	chr4:86976435-86976436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79303008	chr4:86976437-86976438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538728254	chr4:86976447-86976448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144948872	chr4:86976519-86976520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188348370	chr4:86976560-86976561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77123347	chr4:86976782-86976783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147944738	chr4:86976791-86976792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193009187	chr4:86976809-86976810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs993593	chr4:86976838-86976839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544454611	chr4:86976864-86976865	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139465513	chr4:86976926-86976927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542446254	chr4:86976955-86976956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184650432	chr4:86977016-86977017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189586460	chr4:86977023-86977024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527341963	chr4:86977117-86977118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542206020	chr4:86977118-86977119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561278864	chr4:86977147-86977148	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142506288	chr4:86977242-86977243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549982392	chr4:86977254-86977255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1436526	chr4:86977277-86977278	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191477719	chr4:86977296-86977297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1436527	chr4:86977321-86977322	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572615452	chr4:86977343-86977344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74376405	chr4:86977371-86977372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78285532	chr4:86977372-86977373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75869083	chr4:86977374-86977375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78469914	chr4:86977375-86977376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566164406	chr4:86977396-86977397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536688284	chr4:86977413-86977414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554989305	chr4:86977543-86977544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183676832	chr4:86977544-86977545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564535639	chr4:86977616-86977617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189476573	chr4:86977644-86977645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556339591	chr4:86977657-86977658	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181799952	chr4:86977687-86977688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377289678	chr4:86977701-86977702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35663996	chr4:86977705-86977706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534861002	chr4:86977721-86977722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545184900	chr4:86977725-86977726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187129881	chr4:86977784-86977785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572091359	chr4:86977799-86977800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542242454	chr4:86977847-86977848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189971893	chr4:86977871-86977872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531896776	chr4:86977877-86977878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181542640	chr4:86977970-86977971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186409149	chr4:86977989-86977990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86916800-86985400	Weak transcription	Ovary	ovary
2	chr4:86936400-86990600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:86949200-86988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:86955000-86985000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:86955200-87003800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:86958400-86992600	Weak transcription	Fetal Kidney	kidney
7	chr4:86961200-86979400	Weak transcription	Fetal Stomach	stomach
8	chr4:86961200-86981000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:86963600-86988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:86965200-86985800	Weak transcription	Adipose Nuclei	Adipose
11	chr4:86965200-86987000	Weak transcription	Brain Substantia Nigra	brain
12	chr4:86970000-86988400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:86970200-86977000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:86970800-86978000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:86971800-87003800	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:86972200-86977000	Weak transcription	NHEK	skin
17	chr4:86975200-86976800	Enhancers	Fetal Brain Male	brain
18	chr4:86975200-87003600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:86975400-86976400	Enhancers	HSMMtube	muscle
20	chr4:86975400-86977800	Enhancers	NHDF-Ad	bronchial
21	chr4:86975600-86976400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:86975600-86976400	Enhancers	Fetal Brain Female	brain
23	chr4:86975600-86977800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:86976000-86984200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:86976200-86976800	Enhancers	Brain Anterior Caudate	brain
26	chr4:86976200-86987800	Weak transcription	Brain Germinal Matrix	brain
27	chr4:86976400-86977600	Weak transcription	HSMMtube	muscle
28	chr4:86976400-87000200	Weak transcription	Fetal Brain Female	brain
29	chr4:86976800-86977200	Weak transcription	Brain Anterior Caudate	brain
30	chr4:86976800-86977600	Enhancers	HUVEC	blood vessel
31	chr4:86976800-86986400	Weak transcription	Fetal Brain Male	brain
32	chr4:86977000-86977400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:86977000-86977600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:86977000-86977600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:86977000-86977600	Enhancers	NHEK	skin
36	chr4:86977200-86977400	Enhancers	Brain Anterior Caudate	brain
37	chr4:86977200-86977400	Enhancers	A549	lung
38	chr4:86977400-87003800	Weak transcription	Brain Anterior Caudate	brain
39	chr4:86977600-86977800	Enhancers	HSMMtube	muscle
40	chr4:86977800-86979000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:86978000-86978800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:86978800-86988800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:86979000-86979200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:86979400-86980000	Strong transcription	Fetal Stomach	stomach
45	chr4:86979600-86985400	Weak transcription	Aorta	Aorta

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