Variant report

Variant	esv1195813
Chromosome Location	chr4:103811148-103811149
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	chr4:103747662..103750581-chr4:103808763..103811614,2	K562	blood:

Variant related genes	Relation type
ENSG00000109332	chromatin interactions
ENSG00000246560	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 77 )

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	rs373404676	chr4:103811148-103811149	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs199490840	chr4:103811149-103811150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103791200-103834800	Weak transcription	Ovary	ovary
2	chr4:103791400-103818600	Weak transcription	HSMMtube	muscle
3	chr4:103792800-103811400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:103796400-103819800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:103799000-103811400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:103799000-103812800	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:103799000-103816800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:103799000-103817000	Weak transcription	Fetal Stomach	stomach
9	chr4:103799200-103812400	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:103799200-103812400	Weak transcription	Fetal Thymus	thymus
11	chr4:103799200-103817200	Weak transcription	Brain Germinal Matrix	brain
12	chr4:103799200-103819400	Weak transcription	Thymus	Thymus
13	chr4:103799600-103811200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:103799600-103812600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:103800000-103812600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:103800200-103811400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:103801400-103811400	Weak transcription	Fetal Intestine Small	intestine
18	chr4:103803000-103812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:103803800-103817200	Weak transcription	GM12878-XiMat	blood
20	chr4:103804800-103819000	Weak transcription	K562	blood
21	chr4:103805800-103811400	Weak transcription	Stomach Mucosa	stomach
22	chr4:103807000-103811400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:103807000-103811400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:103808000-103812600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:103810000-103811600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:103810200-103811800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:103810400-103812000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:103810400-103816800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:103810600-103811800	Enhancers	HMEC	breast
30	chr4:103810600-103811800	Enhancers	NHEK	skin
31	chr4:103810800-103811600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:103810800-103811800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:103811000-103811200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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