Variant report

Variant	esv3324408
Chromosome Location	chr4:96126564-96126926
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	chr4:96126045..96127650-chr4:96129190..96131527,2	K562	blood:
2	chr4:96086744..96087935-chr4:96125403..96126613,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149308569	chr4:96126565-96126566	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550948353	chr4:96126581-96126582	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368552945	chr4:96126587-96126588	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570549565	chr4:96126646-96126647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3775046	chr4:96126653-96126654	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs546643929	chr4:96126723-96126724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201019611	chr4:96126797-96126798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190955986	chr4:96126798-96126799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34174373	chr4:96126802-96126803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182602116	chr4:96126813-96126814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188802790	chr4:96126828-96126829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112538154	chr4:96126829-96126830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537799752	chr4:96126833-96126834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552718270	chr4:96126838-96126839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557779234	chr4:96126858-96126859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577664293	chr4:96126883-96126884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3775045	chr4:96126884-96126885	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:88)

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
lymphocytic leukemia	21291569	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	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
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96098000-96127000	Weak transcription	Right Atrium	heart
2	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
3	chr4:96110600-96133800	Weak transcription	Gastric	stomach
4	chr4:96110600-96134000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:96112600-96127200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:96115400-96134000	Weak transcription	Aorta	Aorta
7	chr4:96115800-96132800	Weak transcription	Right Ventricle	heart
8	chr4:96119600-96128200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:96122600-96127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:96123000-96131400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:96124200-96131000	Weak transcription	Lung	lung
12	chr4:96124200-96133800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:96124200-96135400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:96124200-96135400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:96124400-96132000	Weak transcription	Osteobl	bone
16	chr4:96124800-96126600	Enhancers	Brain Angular Gyrus	brain
17	chr4:96125000-96133800	Weak transcription	Fetal Stomach	stomach
18	chr4:96125400-96126600	Genic enhancers	Brain Hippocampus Middle	brain
19	chr4:96125600-96131000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:96125800-96132200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:96126000-96131200	Weak transcription	Brain Germinal Matrix	brain
22	chr4:96126000-96133600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:96126000-96134600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:96126000-96134600	Weak transcription	Fetal Lung	lung
25	chr4:96126000-96137000	Weak transcription	Ovary	ovary
26	chr4:96126400-96127400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:96126400-96127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:96126400-96127600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:96126400-96133600	Weak transcription	Brain Anterior Caudate	brain
30	chr4:96126400-96133800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:96126600-96132000	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:96126600-96133800	Weak transcription	Brain Angular Gyrus	brain

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