Variant report

Variant	esv3447870
Chromosome Location	chr4:15621393-15621703
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	chr4:15621417..15624141-chr4:15629634..15631169,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191047424	chr4:15621395-15621396	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569753628	chr4:15621396-15621397	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372992036	chr4:15621491-15621492	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538705123	chr4:15621541-15621542	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557822180	chr4:15621562-15621563	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144883442	chr4:15621600-15621601	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149039685	chr4:15621628-15621629	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554561603	chr4:15621642-15621643	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55784324	chr4:15621649-15621650	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543193529	chr4:15621675-15621676	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15565400-15621400	Weak transcription	Esophagus	oesophagus
2	chr4:15568400-15655600	Weak transcription	Gastric	stomach
3	chr4:15589800-15621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:15590600-15626400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
6	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
7	chr4:15602000-15626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
9	chr4:15603000-15624400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:15603800-15626800	Weak transcription	NHLF	lung
11	chr4:15605400-15625800	Weak transcription	HMEC	breast
12	chr4:15605600-15624400	Weak transcription	K562	blood
13	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
14	chr4:15606000-15621600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:15606000-15633800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:15610000-15621400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:15612000-15623200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:15612800-15625200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:15613400-15623000	Weak transcription	HSMM	muscle
20	chr4:15613400-15625800	Weak transcription	NH-A	brain
21	chr4:15613400-15626200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:15613400-15635000	Weak transcription	HSMMtube	muscle
23	chr4:15613600-15623000	Weak transcription	NHDF-Ad	bronchial
24	chr4:15613600-15626000	Weak transcription	Placenta	Placenta
25	chr4:15613800-15621400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:15615600-15625000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:15616200-15622000	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr4:15616400-15621400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:15617600-15621800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:15617800-15622800	ZNF genes & repeats	Fetal Stomach	stomach
31	chr4:15617800-15623800	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr4:15617800-15624400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:15617800-15624600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:15617800-15627400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:15618000-15624600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:15618200-15622600	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr4:15618400-15621400	Weak transcription	Aorta	Aorta
38	chr4:15618400-15623600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr4:15618600-15625800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:15618600-15626000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:15618600-15627000	Weak transcription	Right Ventricle	heart
42	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
43	chr4:15619000-15622800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
44	chr4:15619200-15622200	ZNF genes & repeats	Fetal Lung	lung
45	chr4:15619200-15622600	ZNF genes & repeats	Fetal Brain Female	brain
46	chr4:15619200-15622800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr4:15619400-15621400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:15620200-15622400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:15620200-15622600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:15620200-15622800	ZNF genes & repeats	Fetal Thymus	thymus

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