Variant report

Variant	esv2181954
Chromosome Location	chr4:48641133-48641134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 61 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11728565	chr4:48641133-48641134	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:61)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Breast cancer	16608533	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48575200-48643000	Weak transcription	HSMMtube	muscle
2	chr4:48588400-48644600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:48597800-48644600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:48606800-48645000	Weak transcription	Gastric	stomach
5	chr4:48620200-48644800	Weak transcription	Fetal Stomach	stomach
6	chr4:48621200-48642400	Weak transcription	Fetal Heart	heart
7	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
8	chr4:48621800-48642200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:48621800-48645000	Weak transcription	Lung	lung
10	chr4:48621800-48655800	Weak transcription	Colonic Mucosa	Colon
11	chr4:48622800-48644800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:48622800-48648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:48623400-48644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:48625800-48642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:48627200-48645000	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:48627200-48652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:48627200-48656400	Weak transcription	Fetal Intestine Small	intestine
18	chr4:48632200-48644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:48635200-48644800	Weak transcription	Aorta	Aorta
20	chr4:48635200-48654000	Weak transcription	Fetal Intestine Large	intestine
21	chr4:48635200-48655000	Weak transcription	Dnd41	blood
22	chr4:48636200-48642600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:48636200-48642600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:48636400-48642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:48636400-48643000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:48637600-48656400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:48637800-48641200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:48637800-48641800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:48637800-48642000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:48637800-48642000	Weak transcription	Adipose Nuclei	Adipose
31	chr4:48637800-48642000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:48637800-48642000	Weak transcription	Stomach Mucosa	stomach
33	chr4:48637800-48642400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:48637800-48643000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:48637800-48643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:48637800-48643000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:48637800-48643200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:48637800-48643400	Weak transcription	Psoas Muscle	Psoas
39	chr4:48637800-48643600	Weak transcription	HSMM	muscle
40	chr4:48637800-48644800	Weak transcription	Small Intestine	intestine
41	chr4:48637800-48644800	Weak transcription	NHLF	lung
42	chr4:48637800-48645000	Weak transcription	Left Ventricle	heart
43	chr4:48637800-48652400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:48637800-48653400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:48638000-48641400	Weak transcription	Brain Angular Gyrus	brain
47	chr4:48638000-48641600	Weak transcription	NHDF-Ad	bronchial
48	chr4:48638000-48641800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:48638000-48642000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:48638000-48642000	Weak transcription	Brain Substantia Nigra	brain

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