Variant report

Variant	esv1212155
Chromosome Location	chr7:5819459-5819460
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	chr7:5012983..5015694-chr7:5819277..5821133,2	K562	blood:
2	chr7:5012284..5014483-chr7:5819277..5821280,2	K562	blood:

Variant related genes	Relation type
ENSG00000196204	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 77 )

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	rs79807001	chr7:5819459-5819460	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112640762	chr7:5819460-5819461	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	21346763	CNVD
Acute myeloid leukemia	21251322	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:5784000-5819600	Weak transcription	Fetal Heart	heart
3	chr7:5790800-5820400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:5792800-5820000	Weak transcription	Fetal Kidney	kidney
5	chr7:5792800-5820200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:5792800-5820200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:5792800-5820200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:5798800-5820400	Weak transcription	Esophagus	oesophagus
9	chr7:5799200-5819600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:5799200-5820200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:5799600-5820200	Weak transcription	Thymus	Thymus
12	chr7:5800400-5819600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:5800600-5819600	Weak transcription	Liver	Liver
14	chr7:5807000-5820400	Weak transcription	Aorta	Aorta
15	chr7:5807400-5819600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:5807400-5819600	Weak transcription	HSMMtube	muscle
17	chr7:5808200-5820400	Weak transcription	Gastric	stomach
18	chr7:5811400-5820200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:5813400-5820400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:5814400-5819600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:5814600-5820400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:5815200-5819600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:5815600-5819600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:5815800-5819600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:5815800-5819600	Weak transcription	Fetal Lung	lung
26	chr7:5816600-5819600	Genic enhancers	Dnd41	blood
27	chr7:5816800-5820200	Weak transcription	Fetal Intestine Small	intestine
28	chr7:5817000-5819800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:5817200-5819600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:5817200-5819600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:5817200-5819600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:5817200-5819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:5817200-5820000	Weak transcription	Fetal Thymus	thymus
34	chr7:5817200-5820200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:5817200-5820200	Weak transcription	Lung	lung
36	chr7:5817200-5820400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:5817400-5819600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:5817400-5819600	Weak transcription	NHDF-Ad	bronchial
39	chr7:5817600-5819600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:5817600-5819600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:5817600-5819600	Weak transcription	HSMM	muscle
42	chr7:5817600-5819800	Weak transcription	Fetal Brain Female	brain
43	chr7:5817800-5819600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:5817800-5819600	Weak transcription	K562	blood
45	chr7:5817800-5820200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:5817800-5820200	Weak transcription	Fetal Intestine Large	intestine
47	chr7:5818000-5819600	Weak transcription	A549	lung
48	chr7:5818000-5820200	Weak transcription	Psoas Muscle	Psoas
49	chr7:5818000-5820400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:5818200-5819600	Weak transcription	HMEC	breast

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