Variant report

Variant	esv2019878
Chromosome Location	chr4:54219746-54220194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:54218274..54220332-chr4:54242653..54244502,2	K562	blood:
2	chr4:54220179..54222765-chr4:54228443..54230623,2	K562	blood:
3	chr4:54215552..54217782-chr4:54219355..54221752,2	K562	blood:

Variant related genes	Relation type
ENSG00000145216	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536058868	chr4:54219781-54219782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546463884	chr4:54219783-54219784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566435068	chr4:54219788-54219789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538210027	chr4:54219851-54219852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10024702	chr4:54219852-54219853	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575220521	chr4:54219854-54219855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537524679	chr4:54219855-54219856	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540061009	chr4:54219861-54219862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs62325964	chr4:54219942-54219943	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs62325965	chr4:54219987-54219988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62325966	chr4:54219989-54219990	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545221556	chr4:54220034-54220035	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28831138	chr4:54220040-54220041	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193119497	chr4:54220148-54220149	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35848302	chr4:54220164-54220165	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112124703	chr4:54220173-54220174	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185541706	chr4:54220185-54220186	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	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	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	17440070	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:54188200-54231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:54201200-54220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:54202200-54226000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:54206600-54220200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:54210400-54225600	Weak transcription	Small Intestine	intestine
7	chr4:54211600-54220200	Weak transcription	Fetal Stomach	stomach
8	chr4:54212000-54220600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:54212000-54227200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:54212200-54220800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:54213200-54220200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr4:54213600-54228600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:54213800-54230400	Weak transcription	Fetal Kidney	kidney
14	chr4:54214000-54221800	Weak transcription	Ovary	ovary
15	chr4:54214000-54230800	Weak transcription	Aorta	Aorta
16	chr4:54214000-54231200	Weak transcription	Lung	lung
17	chr4:54214200-54220200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:54214200-54221800	Weak transcription	Pancreas	Pancrea
19	chr4:54214200-54221800	Weak transcription	Psoas Muscle	Psoas
20	chr4:54214200-54224000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:54214200-54228200	Weak transcription	Esophagus	oesophagus
22	chr4:54214200-54228200	Weak transcription	Fetal Brain Female	brain
23	chr4:54214200-54228200	Weak transcription	NH-A	brain
24	chr4:54214200-54228800	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:54214200-54229000	Weak transcription	HUVEC	blood vessel
26	chr4:54214200-54230000	Weak transcription	Fetal Heart	heart
27	chr4:54214200-54230000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:54214200-54230400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:54214200-54230800	Weak transcription	Brain Angular Gyrus	brain
30	chr4:54214200-54230800	Weak transcription	Brain Substantia Nigra	brain
31	chr4:54214200-54230800	Weak transcription	Fetal Lung	lung
32	chr4:54214200-54230800	Weak transcription	Right Ventricle	heart
33	chr4:54214200-54230800	Weak transcription	HSMMtube	muscle
34	chr4:54214200-54231000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:54214200-54231000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:54214200-54231200	Weak transcription	Spleen	Spleen
37	chr4:54214400-54224400	Weak transcription	A549	lung
38	chr4:54214400-54230200	Weak transcription	HMEC	breast
39	chr4:54214600-54230000	Weak transcription	Brain Anterior Caudate	brain
40	chr4:54214800-54220000	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:54214800-54220200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:54214800-54230200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:54215000-54226800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:54215200-54219800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:54215400-54220000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:54215400-54220200	Strong transcription	Primary T cells from cord blood	blood
47	chr4:54215800-54220200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:54215800-54221200	Weak transcription	K562	blood
49	chr4:54216000-54219800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:54216000-54221000	Weak transcription	HepG2	liver

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