Variant report

Variant	esv3490298
Chromosome Location	chr4:86975678-86980951
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: 164 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539698595	chr4:86975779-86975780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138823940	chr4:86975784-86975785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182093934	chr4:86975801-86975802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141906934	chr4:86975840-86975841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553625029	chr4:86975842-86975843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60270707	chr4:86975845-86975846	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150852901	chr4:86975855-86975856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139299996	chr4:86975874-86975875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534319635	chr4:86975888-86975889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540117413	chr4:86975987-86975988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557774125	chr4:86976081-86976082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149622742	chr4:86976135-86976136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544418863	chr4:86976138-86976139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144330639	chr4:86976142-86976143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532871856	chr4:86976154-86976155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140887850	chr4:86976172-86976173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187844576	chr4:86976239-86976240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3775176	chr4:86976292-86976293	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78862338	chr4:86976338-86976339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192321413	chr4:86976350-86976351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs202119785	chr4:86976377-86976378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567615331	chr4:86976382-86976383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183723220	chr4:86976389-86976390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1898249	chr4:86976413-86976414	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571739870	chr4:86976435-86976436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79303008	chr4:86976437-86976438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538728254	chr4:86976447-86976448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144948872	chr4:86976519-86976520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188348370	chr4:86976560-86976561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77123347	chr4:86976782-86976783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147944738	chr4:86976791-86976792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193009187	chr4:86976809-86976810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs993593	chr4:86976838-86976839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544454611	chr4:86976864-86976865	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139465513	chr4:86976926-86976927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542446254	chr4:86976955-86976956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184650432	chr4:86977016-86977017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189586460	chr4:86977023-86977024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527341963	chr4:86977117-86977118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542206020	chr4:86977118-86977119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561278864	chr4:86977147-86977148	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142506288	chr4:86977242-86977243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549982392	chr4:86977254-86977255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1436526	chr4:86977277-86977278	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191477719	chr4:86977296-86977297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1436527	chr4:86977321-86977322	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572615452	chr4:86977343-86977344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74376405	chr4:86977371-86977372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78285532	chr4:86977372-86977373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75869083	chr4:86977374-86977375	Weak transcription Strong transcription Enhancers	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:49 , 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	chr4:86965200-86976200	Weak transcription	Brain Anterior Caudate	brain
11	chr4:86965200-86985800	Weak transcription	Adipose Nuclei	Adipose
12	chr4:86965200-86987000	Weak transcription	Brain Substantia Nigra	brain
13	chr4:86970000-86988400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:86970200-86977000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:86970800-86978000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:86971800-87003800	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:86972200-86977000	Weak transcription	NHEK	skin
18	chr4:86975200-86976800	Enhancers	Fetal Brain Male	brain
19	chr4:86975200-87003600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:86975400-86976400	Enhancers	HSMMtube	muscle
21	chr4:86975400-86977800	Enhancers	NHDF-Ad	bronchial
22	chr4:86975600-86976200	Enhancers	Brain Germinal Matrix	brain
23	chr4:86975600-86976400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:86975600-86976400	Enhancers	Fetal Brain Female	brain
25	chr4:86975600-86977800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:86976000-86984200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:86976200-86976800	Enhancers	Brain Anterior Caudate	brain
28	chr4:86976200-86987800	Weak transcription	Brain Germinal Matrix	brain
29	chr4:86976400-86977600	Weak transcription	HSMMtube	muscle
30	chr4:86976400-87000200	Weak transcription	Fetal Brain Female	brain
31	chr4:86976800-86977200	Weak transcription	Brain Anterior Caudate	brain
32	chr4:86976800-86977600	Enhancers	HUVEC	blood vessel
33	chr4:86976800-86986400	Weak transcription	Fetal Brain Male	brain
34	chr4:86977000-86977400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:86977000-86977600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:86977000-86977600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:86977000-86977600	Enhancers	NHEK	skin
38	chr4:86977200-86977400	Enhancers	Brain Anterior Caudate	brain
39	chr4:86977200-86977400	Enhancers	A549	lung
40	chr4:86977400-87003800	Weak transcription	Brain Anterior Caudate	brain
41	chr4:86977600-86977800	Enhancers	HSMMtube	muscle
42	chr4:86977800-86979000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:86978000-86978800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:86978800-86988800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:86979000-86979200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:86979400-86980000	Strong transcription	Fetal Stomach	stomach
47	chr4:86979600-86985400	Weak transcription	Aorta	Aorta
48	chr4:86980000-87004000	Weak transcription	Fetal Stomach	stomach
49	chr4:86980800-86981200	Enhancers	Fetal Muscle Leg	muscle

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