Variant report

Variant	esv3362534
Chromosome Location	chr4:148737276-148737830
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	chr4:148735688..148738679-chr4:148741409..148744100,2	MCF-7	breast:
2	chr4:148731757..148733560-chr4:148736505..148738130,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555001414	chr4:148737279-148737280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370797877	chr4:148737280-148737281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563606637	chr4:148737298-148737299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531606574	chr4:148737399-148737400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551781060	chr4:148737429-148737430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559470190	chr4:148737450-148737451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576509963	chr4:148737462-148737463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113446210	chr4:148737493-148737494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565219275	chr4:148737495-148737496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527750776	chr4:148737538-148737539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114170339	chr4:148737542-148737543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567475862	chr4:148737555-148737556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536459213	chr4:148737608-148737609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189206193	chr4:148737656-148737657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570372907	chr4:148737682-148737683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538231786	chr4:148737689-148737690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6535562	chr4:148737690-148737691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571962546	chr4:148737717-148737718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192488563	chr4:148737723-148737724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201654723	chr4:148737743-148737744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6535563	chr4:148737780-148737781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533492753	chr4:148737781-148737782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:148729400-148742200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:148730000-148742200	Weak transcription	HSMM	muscle
4	chr4:148730200-148737400	Weak transcription	Brain Anterior Caudate	brain
5	chr4:148732200-148738800	Enhancers	Ovary	ovary
6	chr4:148732400-148738000	Enhancers	Psoas Muscle	Psoas
7	chr4:148732600-148742200	Weak transcription	GM12878-XiMat	blood
8	chr4:148732600-148744000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:148733000-148739400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:148733200-148742400	Weak transcription	Fetal Intestine Small	intestine
11	chr4:148733400-148738800	Enhancers	Rectal Smooth Muscle	rectum
12	chr4:148734000-148742800	Weak transcription	Fetal Lung	lung
13	chr4:148734200-148738000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:148734600-148761000	Weak transcription	Fetal Kidney	kidney
15	chr4:148734800-148742000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:148735000-148737400	Weak transcription	Fetal Stomach	stomach
17	chr4:148735000-148739000	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:148735000-148739200	Enhancers	Colon Smooth Muscle	Colon
19	chr4:148735000-148739200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:148735000-148741200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:148735200-148737800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:148735400-148739200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr4:148735400-148742200	Weak transcription	NHLF	lung
24	chr4:148735800-148741400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:148735800-148742800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:148736200-148737400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:148736200-148737400	Enhancers	Esophagus	oesophagus
28	chr4:148736200-148737600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:148736200-148737600	Enhancers	Duodenum Mucosa	Duodenum
30	chr4:148736200-148737600	Enhancers	Lung	lung
31	chr4:148736200-148737600	Enhancers	Right Atrium	heart
32	chr4:148736200-148737600	Enhancers	Right Ventricle	heart
33	chr4:148736200-148737800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr4:148736200-148737800	Enhancers	Left Ventricle	heart
35	chr4:148736200-148739200	Enhancers	Aorta	Aorta
36	chr4:148736200-148741200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:148736200-148742200	Weak transcription	HSMMtube	muscle
38	chr4:148736400-148737400	Enhancers	HUVEC	blood vessel
39	chr4:148736400-148737600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr4:148736400-148737600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:148736400-148737800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:148736400-148737800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:148736400-148741200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:148736400-148741800	Weak transcription	HMEC	breast
45	chr4:148736400-148742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:148736600-148737600	Enhancers	Primary T cells from cord blood	blood
47	chr4:148736600-148737800	Enhancers	Fetal Thymus	thymus
48	chr4:148736600-148739000	Enhancers	Adipose Nuclei	Adipose
49	chr4:148736600-148742000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:148736800-148737400	Enhancers	Primary hematopoietic stem cells	blood

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