Variant report

Variant	esv3343276
Chromosome Location	chr1:186275179-186278377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186275203..186277075-chr1:186278106..186280795,2	K562	blood:
2	chr1:186268258..186271597-chr1:186273909..186276929,3	MCF-7	breast:
3	chr1:186275203..186277075-chr1:186278106..186280795,2	K562	blood:
4	chr1:186253069..186255534-chr1:186273980..186275987,2	K562	blood:
5	chr1:186267939..186270683-chr1:186273055..186275696,2	K562	blood:

Extended variants
information (count: 257 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74716550	chr1:186275196-186275197	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572947984	chr1:186275237-186275238	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534910806	chr1:186275247-186275248	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553492755	chr1:186275252-186275253	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183374360	chr1:186275255-186275256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187774567	chr1:186275280-186275281	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563622092	chr1:186275328-186275329	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559387288	chr1:186275337-186275338	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542582245	chr1:186275398-186275399	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373986292	chr1:186275405-186275406	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139300692	chr1:186275461-186275462	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561048279	chr1:186275485-186275486	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558034730	chr1:186275489-186275490	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147798750	chr1:186275492-186275493	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200705537	chr1:186275504-186275505	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114532084	chr1:186275510-186275511	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143123071	chr1:186275516-186275517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28698702	chr1:186275519-186275520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372266411	chr1:186275537-186275538	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371944260	chr1:186275558-186275559	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12128607	chr1:186275564-186275565	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs375074991	chr1:186275571-186275572	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555075735	chr1:186275592-186275593	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113383997	chr1:186275597-186275598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146317304	chr1:186275601-186275602	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79706370	chr1:186275607-186275608	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369538986	chr1:186275658-186275659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149863309	chr1:186275666-186275667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145565743	chr1:186275692-186275693	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200112019	chr1:186275699-186275700	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201326981	chr1:186275716-186275717	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377011883	chr1:186275721-186275722	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147788980	chr1:186275730-186275731	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569139731	chr1:186275743-186275744	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61729246	chr1:186275744-186275745	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16825150	chr1:186275760-186275761	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs566456042	chr1:186275769-186275770	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183587223	chr1:186275829-186275830	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558369432	chr1:186275843-186275844	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116879071	chr1:186275857-186275858	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376266148	chr1:186275866-186275867	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140318596	chr1:186275889-186275890	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145467926	chr1:186275903-186275904	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535944296	chr1:186275905-186275906	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201481046	chr1:186275921-186275922	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114265897	chr1:186275933-186275934	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147525905	chr1:186275964-186275965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374026500	chr1:186275976-186275977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557252400	chr1:186276005-186276006	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367903219	chr1:186276040-186276041	Weak transcription Enhancers Strong transcription	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
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186265600-186279400	Weak transcription	A549	lung
2	chr1:186267200-186281600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:186267400-186280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:186268400-186279200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:186268600-186281200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:186269000-186281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:186269400-186277600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:186269400-186281400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:186269400-186281400	Weak transcription	Fetal Heart	heart
10	chr1:186270200-186277400	Enhancers	Primary T cells from cord blood	blood
11	chr1:186270200-186277800	Enhancers	Fetal Thymus	thymus
12	chr1:186270400-186279200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:186270400-186279600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:186271200-186276200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:186271400-186276800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:186271800-186277200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:186271800-186278200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:186272000-186277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:186272000-186280000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:186272000-186280000	Weak transcription	Osteobl	bone
21	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:186272400-186277600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:186272400-186278800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:186272400-186279600	Strong transcription	Liver	Liver
25	chr1:186272400-186280400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:186272400-186281200	Weak transcription	NHDF-Ad	bronchial
27	chr1:186273200-186283800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:186273200-186284000	Weak transcription	Spleen	Spleen
29	chr1:186273200-186286200	Weak transcription	Pancreas	Pancrea
30	chr1:186273200-186290000	Weak transcription	Gastric	stomach
31	chr1:186273600-186276400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:186273800-186277400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:186274000-186275200	Enhancers	HUVEC	blood vessel
34	chr1:186274400-186276400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:186274600-186278200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:186274800-186278000	Enhancers	Thymus	Thymus
37	chr1:186275000-186275200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:186275000-186275200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:186275000-186279600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:186275000-186279600	Weak transcription	Left Ventricle	heart
41	chr1:186275000-186280200	Weak transcription	Placenta	Placenta
42	chr1:186275000-186281200	Weak transcription	Adipose Nuclei	Adipose
43	chr1:186275000-186281400	Weak transcription	NHEK	skin
44	chr1:186275000-186282800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:186275000-186284000	Weak transcription	Aorta	Aorta
46	chr1:186275000-186284000	Weak transcription	Esophagus	oesophagus
47	chr1:186275000-186284000	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:186275000-186284000	Weak transcription	Lung	lung
49	chr1:186275000-186284000	Weak transcription	Right Ventricle	heart
50	chr1:186275000-186284800	Weak transcription	Brain Substantia Nigra	brain

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