Variant report

Variant	esv3467192
Chromosome Location	chr4:74555130-74557160
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	chr4:74555081..74557547-chr4:74559945..74561455,2	K562	blood:
2	chr4:74552740..74555575-chr4:74963149..74964883,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556631302	chr4:74555153-74555154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565963578	chr4:74555162-74555163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187430307	chr4:74555166-74555167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559002771	chr4:74555184-74555185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570825019	chr4:74555185-74555186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572026325	chr4:74555195-74555196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538364847	chr4:74555209-74555210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556605159	chr4:74555212-74555213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574974028	chr4:74555224-74555225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542404623	chr4:74555225-74555226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190704855	chr4:74555266-74555267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1247612	chr4:74555287-74555288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546051560	chr4:74555329-74555330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1358594	chr4:74555477-74555478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139125798	chr4:74555489-74555490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182625755	chr4:74555541-74555542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564064356	chr4:74555563-74555564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111352221	chr4:74555611-74555612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187283213	chr4:74555612-74555613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529124629	chr4:74555668-74555669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149928574	chr4:74555690-74555691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192711428	chr4:74555691-74555692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533281253	chr4:74555706-74555707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551673128	chr4:74555743-74555744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79330140	chr4:74555752-74555753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538232350	chr4:74555766-74555767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556427912	chr4:74555838-74555839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184513668	chr4:74555897-74555898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535536607	chr4:74555905-74555906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529607752	chr4:74555908-74555909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539364977	chr4:74555914-74555915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554358212	chr4:74555924-74555925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549296415	chr4:74555934-74555935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557012330	chr4:74555965-74555966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572274193	chr4:74555997-74555998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1247613	chr4:74556038-74556039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187905910	chr4:74556067-74556068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371661430	chr4:74556155-74556156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575674787	chr4:74556207-74556208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193007293	chr4:74556232-74556233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561481088	chr4:74556240-74556241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144191725	chr4:74556267-74556268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148684632	chr4:74556268-74556269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1247614	chr4:74556272-74556273	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566289800	chr4:74556276-74556277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533139455	chr4:74556317-74556318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184777343	chr4:74556446-74556447	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144234731	chr4:74556469-74556470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530669380	chr4:74556496-74556497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114880009	chr4:74556519-74556520	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74546000-74555600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:74550200-74555200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:74550200-74563600	Weak transcription	HMEC	breast
4	chr4:74550800-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:74550800-74555600	Weak transcription	A549	lung
6	chr4:74551000-74555800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:74553200-74555400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:74553400-74555600	Weak transcription	Hela-S3	cervix
9	chr4:74553400-74558200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:74554800-74555600	Weak transcription	Osteobl	bone
11	chr4:74555000-74556800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:74555200-74556800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:74555400-74556400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:74555400-74556400	Enhancers	NHDF-Ad	bronchial
15	chr4:74555400-74556800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:74555600-74556000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:74555600-74556000	Enhancers	NHEK	skin
18	chr4:74555600-74556200	Enhancers	Hela-S3	cervix
19	chr4:74555600-74556400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:74555600-74556400	Enhancers	Osteobl	bone
21	chr4:74555600-74556600	Enhancers	NHLF	lung
22	chr4:74555600-74556800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:74555600-74556800	Enhancers	A549	lung
24	chr4:74555800-74556400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:74555800-74556400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:74555800-74556800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:74555800-74556800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr4:74556000-74556200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:74556000-74557800	Weak transcription	NHEK	skin
30	chr4:74556200-74556600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:74556200-74557800	Weak transcription	Hela-S3	cervix
32	chr4:74556400-74556800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr4:74556400-74557600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:74556400-74557800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:74556400-74563800	Weak transcription	NHDF-Ad	bronchial
36	chr4:74556400-74563800	Weak transcription	Osteobl	bone
37	chr4:74556800-74557000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr4:74556800-74557800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:74556800-74557800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:74556800-74557800	Weak transcription	A549	lung

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