Variant report

Variant	esv2329745
Chromosome Location	chr4:120169221-120169710
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	chr4:119991797..119993940-chr4:120168867..120171491,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 71 )

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	rs549103461	chr4:120169289-120169290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35197422	chr4:120169314-120169315	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs142273077	chr4:120169336-120169337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560767241	chr4:120169374-120169375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35434465	chr4:120169378-120169379	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs34616304	chr4:120169435-120169436	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs12644843	chr4:120169477-120169478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs56196331	chr4:120169528-120169529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531555717	chr4:120169535-120169536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55892700	chr4:120169550-120169551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551385454	chr4:120169586-120169587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148217658	chr4:120169602-120169603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534512556	chr4:120169610-120169611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188850057	chr4:120169624-120169625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552868342	chr4:120169625-120169626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200150140	chr4:120169639-120169640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192006706	chr4:120169672-120169673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120134800-120170000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:120135000-120170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:120135200-120176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:120135200-120176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:120135600-120173800	Weak transcription	Brain Anterior Caudate	brain
8	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
9	chr4:120141000-120192400	Weak transcription	Hela-S3	cervix
10	chr4:120143000-120176200	Weak transcription	Esophagus	oesophagus
11	chr4:120146000-120178600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:120155400-120169800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:120155400-120169800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:120155400-120169800	Weak transcription	Ovary	ovary
16	chr4:120155400-120176200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:120155400-120176400	Weak transcription	Right Ventricle	heart
18	chr4:120155600-120169800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:120155600-120173800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:120155600-120176400	Weak transcription	Brain Substantia Nigra	brain
21	chr4:120155600-120186000	Weak transcription	Fetal Heart	heart
22	chr4:120157000-120170000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:120157600-120176800	Weak transcription	Primary B cells from cord blood	blood
24	chr4:120159400-120200800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:120159400-120201600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:120159400-120206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:120159600-120170000	Weak transcription	K562	blood
28	chr4:120159600-120200800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:120159800-120188400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:120160400-120174200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:120160800-120195000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:120161000-120173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:120161600-120170000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:120162400-120176600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:120163800-120169800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:120163800-120175600	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:120164000-120176600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:120164600-120173000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:120165000-120171400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:120165600-120172400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr4:120165800-120172000	Strong transcription	NHDF-Ad	bronchial
42	chr4:120165800-120179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:120165800-120187000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr4:120166000-120183600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:120166000-120195200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:120166200-120170000	Weak transcription	Stomach Mucosa	stomach
47	chr4:120166200-120170600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:120166200-120171400	Strong transcription	Osteobl	bone
49	chr4:120166200-120172000	Weak transcription	Brain Germinal Matrix	brain
50	chr4:120166200-120175000	Weak transcription	Primary B cells from peripheral blood	blood

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