Variant report

Variant	esv275411
Chromosome Location	chr1:193191382-193194100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193190934..193192704-chr1:193194043..193196194,2	MCF-7	breast:
2	chr1:193189908..193192656-chr1:193195935..193198458,2	K562	blood:
3	chr1:193186479..193188136-chr1:193189038..193191435,2	MCF-7	breast:
4	chr1:193190934..193192704-chr1:193194043..193196194,2	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539407749	chr1:193191382-193191383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568534083	chr1:193191386-193191387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534069909	chr1:193191388-193191389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150953121	chr1:193191443-193191444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181187154	chr1:193191453-193191454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184094041	chr1:193191475-193191476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370407491	chr1:193191494-193191495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566597935	chr1:193191496-193191497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535643810	chr1:193191583-193191584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188015681	chr1:193191608-193191609	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180955802	chr1:193191634-193191635	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74130935	chr1:193191646-193191647	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557707396	chr1:193191676-193191677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202188061	chr1:193191698-193191699	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577231575	chr1:193191775-193191776	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187204213	chr1:193191794-193191795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562844069	chr1:193191802-193191803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374600508	chr1:193191811-193191812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74130936	chr1:193191826-193191827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542396241	chr1:193191853-193191854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59773568	chr1:193191886-193191887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397823788	chr1:193191902-193191903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374999757	chr1:193191903-193191904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556777096	chr1:193191918-193191919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199754648	chr1:193191919-193191920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373535205	chr1:193191977-193191978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527761163	chr1:193191981-193191982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578254511	chr1:193191990-193191991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79483531	chr1:193192026-193192027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544994903	chr1:193192055-193192056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116338316	chr1:193192115-193192116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140791762	chr1:193192146-193192147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191999040	chr1:193192202-193192203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569955869	chr1:193192224-193192225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535417969	chr1:193192235-193192236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555515796	chr1:193192252-193192253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377042562	chr1:193192317-193192318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572153293	chr1:193192339-193192340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372591068	chr1:193192344-193192345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5779667	chr1:193192364-193192365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397795369	chr1:193192373-193192374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370001577	chr1:193192374-193192375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35510902	chr1:193192380-193192381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368996674	chr1:193192392-193192393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565759050	chr1:193192410-193192411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534678116	chr1:193192411-193192412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79762927	chr1:193192509-193192510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557438927	chr1:193192517-193192518	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577169257	chr1:193192518-193192519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543009459	chr1:193192545-193192546	Weak transcription Strong transcription Enhancers	n/a	n/a	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
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
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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193167800-193210400	Weak transcription	Ovary	ovary
5	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:193176800-193203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:193177000-193206600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:193180600-193200400	Weak transcription	Fetal Heart	heart
11	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
13	chr1:193181000-193207400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:193181400-193198200	Weak transcription	Hela-S3	cervix
15	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
17	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:193183400-193216000	Weak transcription	NHEK	skin
19	chr1:193184200-193202200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:193184200-193209000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:193184400-193202000	Weak transcription	K562	blood
22	chr1:193184400-193227600	Weak transcription	HMEC	breast
23	chr1:193185000-193204200	Weak transcription	Fetal Kidney	kidney
24	chr1:193185400-193204600	Weak transcription	NHDF-Ad	bronchial
25	chr1:193185400-193211000	Weak transcription	Fetal Brain Female	brain
26	chr1:193185400-193218200	Weak transcription	HepG2	liver
27	chr1:193185600-193194000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:193185600-193202200	Weak transcription	Osteobl	bone
29	chr1:193186200-193198400	Weak transcription	Psoas Muscle	Psoas
30	chr1:193186200-193202000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:193186200-193202000	Weak transcription	NH-A	brain
32	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
33	chr1:193186600-193198600	Weak transcription	Placenta	Placenta
34	chr1:193186600-193210600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:193186800-193197400	Weak transcription	A549	lung
37	chr1:193186800-193202000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:193186800-193210400	Weak transcription	Lung	lung
39	chr1:193187000-193191400	Weak transcription	Brain Germinal Matrix	brain
40	chr1:193187000-193201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:193187000-193202200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:193187000-193205200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:193187000-193205200	Weak transcription	Fetal Intestine Small	intestine
44	chr1:193187000-193205200	Weak transcription	Left Ventricle	heart
45	chr1:193187000-193205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:193187000-193205400	Weak transcription	Fetal Stomach	stomach
47	chr1:193187000-193206600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:193187000-193207200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:193187000-193210400	Weak transcription	Gastric	stomach
50	chr1:193187000-193210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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