Variant report

Variant	esv3320776
Chromosome Location	chr1:165731050-165731573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165730777..165733334-chr1:165795438..165798730,3	K562	blood:
2	chr1:165727367..165730301-chr1:165730558..165733503,2	MCF-7	breast:
3	chr1:165702257..165704580-chr1:165731133..165732717,2	K562	blood:
4	chr1:165727144..165731091-chr1:165796084..165798255,3	K562	blood:
5	chr1:165730442..165735280-chr1:165736024..165740207,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143183	chromatin interactions
ENSG00000143179	chromatin interactions
ENSG00000224358	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560949716	chr1:165731065-165731066	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs574451741	chr1:165731080-165731081	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540743291	chr1:165731115-165731116	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs181742860	chr1:165731199-165731200	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs532624124	chr1:165731210-165731211	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs373589359	chr1:165731244-165731245	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs199617163	chr1:165731246-165731247	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs200524544	chr1:165731248-165731249	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs201646040	chr1:165731249-165731250	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs552130117	chr1:165731481-165731482	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562671281	chr1:165731482-165731483	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs531643609	chr1:165731483-165731484	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548466979	chr1:165731486-165731487	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs568080919	chr1:165731487-165731488	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549071208	chr1:165731489-165731490	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
6	chr1:165713400-165733600	Weak transcription	NHEK	skin
7	chr1:165713600-165737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:165720800-165733400	Weak transcription	A549	lung
9	chr1:165721800-165731200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:165721800-165732600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:165721800-165732600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:165721800-165732600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:165721800-165732800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:165721800-165732800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:165721800-165734800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:165721800-165734800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:165721800-165734800	Weak transcription	Esophagus	oesophagus
18	chr1:165721800-165735200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:165721800-165736600	Weak transcription	Stomach Mucosa	stomach
20	chr1:165721800-165737000	Weak transcription	Fetal Brain Male	brain
21	chr1:165721800-165737000	Weak transcription	Fetal Heart	heart
22	chr1:165721800-165737000	Weak transcription	Right Atrium	heart
23	chr1:165721800-165737200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:165721800-165737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:165722400-165732800	Weak transcription	HepG2	liver
26	chr1:165722400-165735000	Weak transcription	HSMMtube	muscle
27	chr1:165722600-165733400	Weak transcription	Brain Anterior Caudate	brain
28	chr1:165722600-165733600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:165722600-165736800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:165722800-165734800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:165723000-165736800	Weak transcription	Spleen	Spleen
32	chr1:165723200-165732800	Weak transcription	Pancreas	Pancrea
33	chr1:165723200-165736800	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:165723400-165734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:165723600-165732600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:165723600-165732800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:165723600-165733600	Weak transcription	Brain Angular Gyrus	brain
38	chr1:165723600-165735600	Weak transcription	Brain Germinal Matrix	brain
39	chr1:165723800-165733400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:165723800-165733800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:165724000-165733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:165724200-165732800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:165724200-165732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:165724200-165733600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:165724200-165733600	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:165724200-165733600	Weak transcription	HUVEC	blood vessel
47	chr1:165724800-165732600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:165725000-165732800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:165725200-165733600	Weak transcription	Small Intestine	intestine
50	chr1:165725800-165732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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