Variant report

Variant	esv1045878
Chromosome Location	chr4:120421127-120421129
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	chr4:120418959..120421709-chr4:120435895..120438263,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-8	chr4:120420716-120421434	NONHSAT147297

Extended variants
information (count: 3 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200021935	chr4:120421127-120421128	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs375680333	chr4:120421128-120421129	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542245410	chr4:120421129-120421130	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	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
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120377200-120433800	Weak transcription	Gastric	stomach
3	chr4:120377400-120439000	Weak transcription	Small Intestine	intestine
4	chr4:120377400-120439000	Weak transcription	Spleen	Spleen
5	chr4:120377600-120441000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
7	chr4:120384400-120439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:120397800-120442600	Weak transcription	Hela-S3	cervix
9	chr4:120399200-120431200	Weak transcription	Fetal Heart	heart
10	chr4:120401600-120433800	Weak transcription	Right Ventricle	heart
11	chr4:120401800-120433400	Weak transcription	Psoas Muscle	Psoas
12	chr4:120402400-120430400	Weak transcription	Ovary	ovary
13	chr4:120403400-120445800	Weak transcription	A549	lung
14	chr4:120408400-120433800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:120412600-120422200	Strong transcription	Dnd41	blood
16	chr4:120413800-120433800	Weak transcription	Esophagus	oesophagus
17	chr4:120414000-120438200	Strong transcription	Osteobl	bone
18	chr4:120414200-120428800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:120414400-120422600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr4:120414400-120429200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:120414400-120440400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:120414800-120421200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:120414800-120423600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:120414800-120424600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr4:120415000-120422000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:120415000-120422200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:120415000-120424000	Strong transcription	Fetal Thymus	thymus
28	chr4:120415000-120425400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:120415200-120421600	Strong transcription	Placenta	Placenta
30	chr4:120415200-120422400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:120415200-120423400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:120415200-120423400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr4:120415200-120426800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:120415200-120428800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:120415200-120433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:120415200-120438800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:120415400-120423200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:120415400-120423800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:120415400-120425000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:120415400-120426600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:120415600-120421600	Strong transcription	HUVEC	blood vessel
42	chr4:120415600-120422200	Strong transcription	NHDF-Ad	bronchial
43	chr4:120415600-120424600	Strong transcription	Adipose Nuclei	Adipose
44	chr4:120415600-120425600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr4:120415600-120426800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:120416000-120426200	Strong transcription	NH-A	brain
47	chr4:120416200-120422000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:120416200-120425600	Strong transcription	Fetal Intestine Large	intestine
49	chr4:120416400-120434400	Weak transcription	Brain Substantia Nigra	brain
50	chr4:120416600-120434200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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