Variant report

Variant	esv2274849
Chromosome Location	chr4:148458779-148459194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377403885	chr4:148458789-148458790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191084403	chr4:148458831-148458832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571833595	chr4:148458866-148458867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560230598	chr4:148458868-148458869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534478601	chr4:148458890-148458891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386680598	chr4:148458894-148458895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180808769	chr4:148458937-148458938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139040778	chr4:148458938-148458939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7439670	chr4:148458950-148458951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76584517	chr4:148458956-148458957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544882373	chr4:148458957-148458958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57873926	chr4:148458962-148458963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2884338	chr4:148458965-148458966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543700791	chr4:148458968-148458969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61168517	chr4:148458972-148458973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61684941	chr4:148459001-148459002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143067731	chr4:148459005-148459006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184920223	chr4:148459014-148459015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576492025	chr4:148459026-148459027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545447875	chr4:148459056-148459057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11940834	chr4:148459065-148459066	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527803032	chr4:148459095-148459096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547637603	chr4:148459110-148459111	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561537394	chr4:148459111-148459112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530279187	chr4:148459129-148459130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550441631	chr4:148459133-148459134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570046929	chr4:148459166-148459167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140748276	chr4:148459194-148459195	Weak transcription Strong 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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148432200-148472600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:148434200-148462600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:148440400-148463400	Weak transcription	NH-A	brain
4	chr4:148440600-148466800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:148444400-148463400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:148447400-148458800	Weak transcription	Fetal Brain Male	brain
7	chr4:148447400-148469200	Weak transcription	Adipose Nuclei	Adipose
8	chr4:148447600-148468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:148450200-148463000	Weak transcription	Fetal Stomach	stomach
10	chr4:148451600-148466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:148452000-148460600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:148453800-148463400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:148455200-148463600	Weak transcription	Fetal Kidney	kidney
14	chr4:148455400-148459000	Weak transcription	Right Atrium	heart
15	chr4:148455400-148463200	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:148455400-148463200	Weak transcription	Left Ventricle	heart
17	chr4:148455600-148460400	Weak transcription	NHDF-Ad	bronchial
18	chr4:148457000-148460200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:148457400-148464000	Strong transcription	Fetal Lung	lung
20	chr4:148457600-148463800	Weak transcription	Spleen	Spleen
21	chr4:148457800-148463400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:148457800-148467600	Weak transcription	Aorta	Aorta
23	chr4:148458000-148463400	Weak transcription	Ovary	ovary
24	chr4:148458000-148465400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:148458400-148460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:148458600-148465200	Weak transcription	Fetal Heart	heart
27	chr4:148459000-148459600	Enhancers	Right Atrium	heart

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