Variant report

Variant	esv1353859
Chromosome Location	chr4:103556367-103556368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 75 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11436517	chr4:103556367-103556368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397769668	chr4:103556368-103556369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103536200-103595400	Weak transcription	Colonic Mucosa	Colon
2	chr4:103536600-103562600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:103536600-103595800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:103541800-103562400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:103541800-103571000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:103542400-103557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:103542400-103560800	Weak transcription	Brain Substantia Nigra	brain
8	chr4:103542400-103562200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:103542400-103578800	Weak transcription	Psoas Muscle	Psoas
10	chr4:103542400-103594400	Weak transcription	K562	blood
11	chr4:103542400-103617400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:103542800-103557200	Weak transcription	Brain Angular Gyrus	brain
13	chr4:103542800-103563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:103545200-103557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:103545200-103559800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:103545200-103592000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:103547000-103658200	Weak transcription	Small Intestine	intestine
18	chr4:103549000-103570400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:103549600-103558600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:103549600-103561600	Weak transcription	NHDF-Ad	bronchial
21	chr4:103549800-103561600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:103549800-103561600	Weak transcription	Osteobl	bone
23	chr4:103549800-103572000	Weak transcription	Placenta	Placenta
24	chr4:103550200-103582800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:103550400-103573000	Weak transcription	Fetal Kidney	kidney
26	chr4:103551000-103562600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:103551000-103563000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:103551000-103565000	Strong transcription	Primary B cells from cord blood	blood
29	chr4:103551000-103607600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr4:103551000-103607800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:103551600-103564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:103551800-103563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:103552000-103561000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr4:103552000-103562800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:103552000-103563400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:103552400-103559200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:103552400-103560800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr4:103552400-103561200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr4:103552400-103561600	Weak transcription	NHEK	skin
40	chr4:103552400-103579600	Weak transcription	Fetal Heart	heart
41	chr4:103552800-103556400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:103552800-103557400	Strong transcription	Aorta	Aorta
43	chr4:103552800-103557400	Strong transcription	Colon Smooth Muscle	Colon
44	chr4:103552800-103558600	Strong transcription	Adipose Nuclei	Adipose
45	chr4:103552800-103558800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr4:103552800-103561000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:103552800-103561000	Strong transcription	Left Ventricle	heart
48	chr4:103552800-103561200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:103552800-103561200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:103552800-103561800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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