Variant report

Variant	esv3379674
Chromosome Location	chr1:180661115-180661592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180659367..180662219-chr1:180675558..180677595,2	MCF-7	breast:
2	chr1:180659868..180662316-chr1:180673434..180676227,3	K562	blood:
3	chr1:180657321..180662997-chr1:180672435..180676141,5	K562	blood:
4	chr1:180659309..180661145-chr1:180702429..180704550,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114872672	chr1:180661141-180661142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533125462	chr1:180661163-180661164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3843278	chr1:180661174-180661175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560204407	chr1:180661240-180661241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527436581	chr1:180661333-180661334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529730722	chr1:180661349-180661350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112164441	chr1:180661373-180661374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545975460	chr1:180661394-180661395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75830089	chr1:180661396-180661397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531601490	chr1:180661417-180661418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185138599	chr1:180661552-180661553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
Glioblastoma multiforme	21080181	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
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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180640200-180662200	Weak transcription	Fetal Heart	heart
3	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:180641600-180661200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:180644000-180662600	Weak transcription	Left Ventricle	heart
6	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:180646400-180662200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:180647400-180662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:180647600-180661200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:180648000-180663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:180659000-180661800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:180659400-180661200	Enhancers	A549	lung
17	chr1:180659400-180661400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:180659400-180661400	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:180659400-180661600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:180659600-180661600	Enhancers	Fetal Brain Female	brain
21	chr1:180659800-180661800	Enhancers	Fetal Brain Male	brain
22	chr1:180660200-180661200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:180660400-180661600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:180660400-180661600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr1:180660400-180662400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:180660600-180661400	Enhancers	Brain Angular Gyrus	brain
27	chr1:180660600-180661400	Enhancers	Right Ventricle	heart
28	chr1:180660600-180661600	Enhancers	Fetal Lung	lung
29	chr1:180660800-180661600	Enhancers	Brain Germinal Matrix	brain
30	chr1:180660800-180662600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:180660800-180664200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:180661000-180662200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:180661000-180662200	Weak transcription	HUVEC	blood vessel
34	chr1:180661000-180663200	Weak transcription	Aorta	Aorta
35	chr1:180661200-180661400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:180661200-180661600	Enhancers	Colon Smooth Muscle	Colon
37	chr1:180661200-180662800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:180661200-180663200	Weak transcription	A549	lung
39	chr1:180661400-180663000	Enhancers	Primary T cells from cord blood	blood
40	chr1:180661400-180663200	Weak transcription	Right Ventricle	heart
41	chr1:180661400-180665400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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