Variant report

Variant	esv3427738
Chromosome Location	chr4:99562356-99562618
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	chr4:99548903..99550666-chr4:99562029..99564226,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 83 )

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	rs150229381	chr4:99562367-99562368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28732372	chr4:99562379-99562380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs114097461	chr4:99562389-99562390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372919016	chr4:99562397-99562398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74648815	chr4:99562432-99562433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545971356	chr4:99562433-99562434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7699492	chr4:99562445-99562446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs138703971	chr4:99562478-99562479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79219725	chr4:99562502-99562503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184601158	chr4:99562556-99562557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149357342	chr4:99562576-99562577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543613391	chr4:99562577-99562578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528998020	chr4:99562609-99562610	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99548000-99569200	Weak transcription	Gastric	stomach
2	chr4:99548000-99577000	Weak transcription	Esophagus	oesophagus
3	chr4:99548400-99563600	Weak transcription	HSMM	muscle
4	chr4:99549600-99563200	Weak transcription	HMEC	breast
5	chr4:99549800-99563600	Weak transcription	NHEK	skin
6	chr4:99550000-99563600	Weak transcription	HUVEC	blood vessel
7	chr4:99551800-99563200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:99552600-99569600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:99552800-99569200	Weak transcription	Fetal Stomach	stomach
10	chr4:99553200-99564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:99554000-99564000	Weak transcription	Osteobl	bone
12	chr4:99554200-99562600	Weak transcription	NH-A	brain
13	chr4:99554200-99564200	Weak transcription	Pancreas	Pancrea
14	chr4:99554200-99569200	Weak transcription	Spleen	Spleen
15	chr4:99554400-99564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:99555800-99563200	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:99558000-99563600	Enhancers	Brain Angular Gyrus	brain
18	chr4:99558200-99563000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:99558200-99564200	Weak transcription	Fetal Heart	heart
20	chr4:99558400-99563200	Weak transcription	Right Ventricle	heart
21	chr4:99559400-99564400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:99559600-99563600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr4:99560200-99565600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:99560200-99569200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:99560600-99562600	Weak transcription	Brain Anterior Caudate	brain
26	chr4:99560600-99564200	Weak transcription	Thymus	Thymus
27	chr4:99560600-99568000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:99560800-99562600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:99560800-99562800	Weak transcription	Stomach Mucosa	stomach
30	chr4:99560800-99564200	Weak transcription	Fetal Thymus	thymus
31	chr4:99560800-99566400	Weak transcription	Brain Germinal Matrix	brain
32	chr4:99560800-99568200	Weak transcription	Fetal Lung	lung
33	chr4:99561000-99562400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:99561000-99562800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:99561000-99563000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:99561000-99564800	Weak transcription	Primary T cells from cord blood	blood
37	chr4:99561000-99566000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr4:99561200-99564800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:99561200-99565200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:99561200-99565400	Enhancers	NHDF-Ad	bronchial
41	chr4:99561200-99567000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:99561200-99567200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:99561400-99563200	Weak transcription	GM12878-XiMat	blood
44	chr4:99561600-99564400	Weak transcription	Fetal Brain Female	brain
45	chr4:99561600-99564800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:99561600-99564800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:99561800-99562600	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:99561800-99562800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:99562000-99562400	Weak transcription	Brain Substantia Nigra	brain
50	chr4:99562000-99562600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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