Variant report

Variant	esv2034149
Chromosome Location	chr7:56088951-56088952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371478233	chr7:56088951-56088952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201744395	chr7:56088952-56088953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Lung adenocarcinoma	21935476	CNVD
Cancer	20164919	CNVD
Gastric cancer	17229543	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56049200-56101600	Weak transcription	Small Intestine	intestine
2	chr7:56060600-56099600	Weak transcription	HUVEC	blood vessel
3	chr7:56063400-56089600	Weak transcription	NHDF-Ad	bronchial
4	chr7:56063400-56096800	Weak transcription	NH-A	brain
5	chr7:56063600-56101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:56063600-56101200	Weak transcription	NHLF	lung
7	chr7:56064400-56101400	Weak transcription	Gastric	stomach
8	chr7:56065000-56101400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:56065000-56101400	Weak transcription	Colonic Mucosa	Colon
10	chr7:56065400-56101400	Weak transcription	Fetal Brain Male	brain
11	chr7:56065800-56095800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:56067200-56101400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:56067400-56100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:56067800-56099600	Weak transcription	K562	blood
15	chr7:56068200-56101200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:56075400-56101400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:56077600-56089200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:56077800-56099600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:56077800-56100600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:56078200-56089200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr7:56078200-56089200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:56078200-56091000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:56078200-56091200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:56078200-56099800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:56078200-56101200	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:56078400-56089000	Strong transcription	Dnd41	blood
27	chr7:56078400-56091200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:56078400-56094400	Weak transcription	HMEC	breast
29	chr7:56081600-56097000	Weak transcription	Placenta	Placenta
30	chr7:56082200-56101200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:56082600-56101200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:56083200-56092800	Weak transcription	HSMM	muscle
33	chr7:56083600-56096800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:56084600-56089000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr7:56084600-56089400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:56084600-56089400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:56084800-56089000	Strong transcription	Liver	Liver
38	chr7:56085000-56089000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:56085200-56089800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:56085400-56089200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:56085600-56089000	Strong transcription	Left Ventricle	heart
42	chr7:56085600-56094400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:56085800-56089000	Strong transcription	Right Ventricle	heart
44	chr7:56085800-56089200	Strong transcription	NHEK	skin
45	chr7:56085800-56089400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:56086000-56089000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:56086000-56089000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:56086000-56089000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:56086000-56089000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr7:56086000-56089000	Strong transcription	Fetal Stomach	stomach

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