Variant report

Variant	esv3443161
Chromosome Location	chr4:99464510-99464780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99460334..99463092-chr4:99464059..99466192,2	MCF-7	breast:
2	chr4:99459317..99461488-chr4:99464335..99467316,2	K562	blood:
3	chr4:99463140..99464695-chr4:99465921..99468144,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11936721	chr4:99464551-99464552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71600249	chr4:99464566-99464567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371880378	chr4:99464570-99464571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397799894	chr4:99464584-99464585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192460579	chr4:99464605-99464606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374894496	chr4:99464622-99464623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370030108	chr4:99464627-99464628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6827510	chr4:99464669-99464670	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570683874	chr4:99464686-99464687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184556751	chr4:99464715-99464716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375077676	chr4:99464728-99464729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200533627	chr4:99464733-99464734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13141738	chr4:99464743-99464744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99445400-99465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:99446000-99467400	Weak transcription	Fetal Stomach	stomach
3	chr4:99449800-99467400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:99450200-99467400	Weak transcription	Osteobl	bone
5	chr4:99450400-99465200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:99450800-99468000	Weak transcription	HSMM	muscle
7	chr4:99458200-99465400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:99459000-99468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:99459200-99465000	Weak transcription	Fetal Brain Male	brain
10	chr4:99459200-99468000	Weak transcription	Esophagus	oesophagus
11	chr4:99459200-99479600	Weak transcription	Spleen	Spleen
12	chr4:99459600-99465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:99459600-99465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:99459600-99465400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:99459600-99466000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:99459600-99467800	Weak transcription	NHLF	lung
17	chr4:99459800-99465400	Weak transcription	Brain Anterior Caudate	brain
18	chr4:99461000-99467400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:99461200-99465400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:99462400-99465400	Weak transcription	Brain Angular Gyrus	brain
21	chr4:99462600-99465400	Weak transcription	Brain Substantia Nigra	brain
22	chr4:99463000-99465400	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:99463200-99465400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:99463400-99464800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr4:99463400-99465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:99463400-99467600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:99463600-99467600	Weak transcription	HMEC	breast
28	chr4:99463800-99465600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:99463800-99478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:99464000-99468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:99464400-99464800	Weak transcription	Fetal Brain Female	brain
32	chr4:99464400-99465400	Weak transcription	Fetal Heart	heart
33	chr4:99464400-99465400	Weak transcription	Ovary	ovary

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