Variant report

Variant	esv16427
Chromosome Location	chr4:75078561-75083647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75072066..75073934-chr4:75080235..75082986,2	K562	blood:
2	chr4:75081253..75083346-chr4:75120623..75122127,2	K562	blood:
3	chr4:75071138..75073600-chr4:75079457..75081137,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs138256443	chr4:75078617-75078618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551351751	chr4:75078636-75078637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191553916	chr4:75078643-75078644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533493030	chr4:75078798-75078799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113849018	chr4:75078823-75078824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112365113	chr4:75078836-75078837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536013970	chr4:75078875-75078876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183467582	chr4:75078881-75078882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535947563	chr4:75078936-75078937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554238300	chr4:75078939-75078940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565921408	chr4:75078965-75078966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540144684	chr4:75078986-75078987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1246783	chr4:75079066-75079067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551482102	chr4:75079090-75079091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188402387	chr4:75079145-75079146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543570967	chr4:75079211-75079212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191281636	chr4:75079258-75079259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555532975	chr4:75079270-75079271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573429237	chr4:75079280-75079281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76854100	chr4:75079317-75079318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540708748	chr4:75079338-75079339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79221103	chr4:75079346-75079347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558938545	chr4:75079390-75079391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182745583	chr4:75079391-75079392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545288977	chr4:75079395-75079396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186701882	chr4:75079498-75079499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530822659	chr4:75079514-75079515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369112019	chr4:75079682-75079683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549244104	chr4:75079734-75079735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567449047	chr4:75079752-75079753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141018222	chr4:75079776-75079777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555452111	chr4:75079859-75079860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565831	chr4:75079882-75079883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370432483	chr4:75079894-75079895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566089037	chr4:75079903-75079904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74639914	chr4:75079934-75079935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76484131	chr4:75079974-75079975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539404870	chr4:75079991-75079992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191557138	chr4:75080028-75080029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531143432	chr4:75080036-75080037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570294530	chr4:75080043-75080044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28814440	chr4:75080058-75080059	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184877605	chr4:75080099-75080100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77163823	chr4:75080106-75080107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557763625	chr4:75080114-75080115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555573949	chr4:75080119-75080120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111831702	chr4:75080120-75080121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76433968	chr4:75080124-75080125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540748309	chr4:75080142-75080143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189244319	chr4:75080145-75080146	Enhancers Weak 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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	20952505	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75024800-75080600	Weak transcription	Left Ventricle	heart
2	chr4:75056800-75096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:75059200-75081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:75060000-75080200	Weak transcription	Dnd41	blood
5	chr4:75064200-75096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:75065000-75086200	Weak transcription	Psoas Muscle	Psoas
7	chr4:75067800-75097000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:75068400-75082400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:75068400-75093000	Weak transcription	Thymus	Thymus
10	chr4:75068400-75096600	Weak transcription	Adipose Nuclei	Adipose
11	chr4:75069600-75091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:75071800-75096400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:75072200-75080200	Weak transcription	Fetal Intestine Small	intestine
14	chr4:75072200-75099200	Weak transcription	Ovary	ovary
15	chr4:75072800-75080200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:75072800-75080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:75073000-75092400	Weak transcription	Primary B cells from cord blood	blood
18	chr4:75073800-75080400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:75073800-75089400	Weak transcription	A549	lung
20	chr4:75073800-75089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:75073800-75094400	Weak transcription	Brain Angular Gyrus	brain
22	chr4:75074000-75082800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:75074200-75079800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:75074200-75080400	Weak transcription	Fetal Thymus	thymus
25	chr4:75074200-75082800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:75074200-75084000	Weak transcription	HMEC	breast
27	chr4:75074400-75083200	Weak transcription	HSMMtube	muscle
28	chr4:75074600-75080200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:75074600-75091200	Weak transcription	Liver	Liver
30	chr4:75075000-75080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:75075000-75080400	Weak transcription	K562	blood
32	chr4:75075000-75095800	Weak transcription	Primary T cells from cord blood	blood
33	chr4:75075200-75083400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:75076800-75080200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:75078000-75084800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:75078400-75083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:75079000-75080400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:75079800-75080800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr4:75080000-75080600	Enhancers	Fetal Intestine Large	intestine
40	chr4:75080000-75081000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:75080000-75081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:75080000-75081200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:75080000-75081400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:75080200-75080400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:75080200-75080600	Genic enhancers	Fetal Intestine Small	intestine
46	chr4:75080200-75080600	Enhancers	Lung	lung
47	chr4:75080200-75080800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:75080200-75080800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:75080200-75080800	Enhancers	Dnd41	blood
50	chr4:75080200-75081200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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