Variant report

Variant	esv1846043
Chromosome Location	chr4:84792366-84829877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:84827046..84827675-chr4:85088517..85089246,2	MCF-7	breast:
2	chr4:84827996..84828908-chr4:85401784..85402760,2	MCF-7	breast:
3	chr4:84826709..84827634-chr4:84882358..84883031,3	MCF-7	breast:

Extended variants
information (count: 839 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:839 , 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	rs376567750	chr4:84792366-84792367	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138914507	chr4:84792427-84792428	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573495927	chr4:84792444-84792445	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116011826	chr4:84792448-84792449	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527517317	chr4:84792489-84792490	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539552765	chr4:84792491-84792492	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190019529	chr4:84792518-84792519	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574102232	chr4:84792526-84792527	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550207344	chr4:84792533-84792534	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34723419	chr4:84792568-84792569	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563065051	chr4:84792574-84792575	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574973411	chr4:84792603-84792604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34773295	chr4:84792624-84792625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545712907	chr4:84792662-84792663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10030289	chr4:84792713-84792714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528422983	chr4:84792816-84792817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6821270	chr4:84792850-84792851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561924727	chr4:84792882-84792883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181101831	chr4:84792934-84792935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569127049	chr4:84792938-84792939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376753285	chr4:84792951-84792952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569404940	chr4:84792967-84792968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376751059	chr4:84792975-84792976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555122687	chr4:84793006-84793007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13140768	chr4:84793007-84793008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs721461	chr4:84793018-84793019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186458939	chr4:84793027-84793028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536547586	chr4:84793066-84793067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567590654	chr4:84793067-84793068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535108451	chr4:84793091-84793092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556523677	chr4:84793115-84793116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575286057	chr4:84793127-84793128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190971182	chr4:84793165-84793166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557523245	chr4:84793179-84793180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28451242	chr4:84793180-84793181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs28780983	chr4:84793190-84793191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs721462	chr4:84793205-84793206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529184183	chr4:84793215-84793216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17007607	chr4:84793235-84793236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs28376947	chr4:84793243-84793244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10516705	chr4:84793304-84793305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs17007615	chr4:84793342-84793343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114079630	chr4:84793454-84793455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10516706	chr4:84793475-84793476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149407191	chr4:84793484-84793485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182292780	chr4:84793486-84793487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6535501	chr4:84793509-84793510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556585475	chr4:84793529-84793530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114884012	chr4:84793568-84793569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374402119	chr4:84793577-84793578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84791000-84792400	Enhancers	Brain Hippocampus Middle	brain
2	chr4:84791600-84792400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:84791600-84792400	Enhancers	Brain Angular Gyrus	brain
4	chr4:84791600-84792600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:84791600-84793000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:84792400-84795600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:84793000-84794400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:84794000-84795800	Enhancers	Placenta	Placenta
9	chr4:84794400-84797200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:84795600-84797200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:84796000-84797200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:84796600-84797000	Enhancers	HSMM	muscle
13	chr4:84796600-84797200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:84797000-84797800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:84800800-84802600	Enhancers	Adipose Nuclei	Adipose
16	chr4:84801200-84802200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:84804400-84804600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:84804600-84804800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:84804600-84805200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:84804600-84805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:84805000-84806400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:84805200-84806000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:84805400-84807200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:84805600-84805800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:84805800-84806600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:84805800-84807400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:84806000-84807200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:84806200-84807200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:84806400-84807400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:84806600-84806800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:84806600-84807000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:84806600-84807200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:84806800-84807000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:84806800-84807200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:84806800-84807200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:84806800-84807200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:84806800-84810800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:84807200-84811800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:84809200-84811800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:84810600-84810800	Active TSS	A549	lung
41	chr4:84810600-84810800	Enhancers	NH-A	brain
42	chr4:84810600-84812400	Enhancers	Osteobl	bone
43	chr4:84810800-84811000	Enhancers	HSMM	muscle
44	chr4:84810800-84811000	Flanking Active TSS	NH-A	brain
45	chr4:84810800-84811200	Enhancers	A549	lung
46	chr4:84810800-84812200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:84810800-84812200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:84810800-84812600	Enhancers	NHEK	skin
49	chr4:84811000-84811400	Active TSS	NH-A	brain
50	chr4:84811200-84811400	Active TSS	A549	lung

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