Variant report

Variant	esv3436667
Chromosome Location	chr1:193235229-193236177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193224128..193229366-chr1:193231563..193237735,7	K562	blood:
2	chr1:193074302..193075986-chr1:193233288..193236192,2	MCF-7	breast:
3	chr1:193233104..193235296-chr1:193237238..193240130,3	K562	blood:

Variant related genes	Relation type
ENSG00000023572	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527931346	chr1:193235253-193235254	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186355779	chr1:193235272-193235273	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142094641	chr1:193235277-193235278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539425349	chr1:193235281-193235282	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550166801	chr1:193235295-193235296	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72740257	chr1:193235322-193235323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs6428159	chr1:193235380-193235381	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191389561	chr1:193235395-193235396	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571892254	chr1:193235397-193235398	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373762744	chr1:193235403-193235404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534844844	chr1:193235407-193235408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115273665	chr1:193235411-193235412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368187080	chr1:193235427-193235428	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74422114	chr1:193235430-193235431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183710083	chr1:193235432-193235433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188530529	chr1:193235506-193235507	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148878507	chr1:193235647-193235648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148363550	chr1:193235655-193235656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150606580	chr1:193235656-193235657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370208477	chr1:193235657-193235658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377495539	chr1:193235695-193235696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562403947	chr1:193235698-193235699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191280011	chr1:193235756-193235757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527867613	chr1:193235766-193235767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547994608	chr1:193235771-193235772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564393213	chr1:193235821-193235822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199635088	chr1:193235861-193235862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200464231	chr1:193235862-193235863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573484820	chr1:193235863-193235864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74936732	chr1:193235875-193235876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533480176	chr1:193235904-193235905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191402786	chr1:193235915-193235916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs6675827	chr1:193235931-193235932	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183108119	chr1:193235983-193235984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186723741	chr1:193236008-193236009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565657776	chr1:193236025-193236026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370961503	chr1:193236064-193236065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191499258	chr1:193236083-193236084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183291302	chr1:193236125-193236126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571208837	chr1:193236127-193236128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537148146	chr1:193236128-193236129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538502848	chr1:193236129-193236130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575388624	chr1:193236154-193236155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573664591	chr1:193236155-193236156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187914371	chr1:193236172-193236173	Weak transcription	Chromatin interactive region	1 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
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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:193216400-193238800	Weak transcription	Hela-S3	cervix
4	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:193217600-193235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:193218000-193239400	Weak transcription	Esophagus	oesophagus
8	chr1:193218200-193236800	Weak transcription	A549	lung
9	chr1:193218400-193235600	Weak transcription	Placenta	Placenta
10	chr1:193218400-193239200	Weak transcription	Osteobl	bone
11	chr1:193218400-193239400	Weak transcription	Left Ventricle	heart
12	chr1:193218600-193237600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:193218800-193238800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:193219000-193236400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:193220400-193237200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:193220600-193239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:193227800-193235400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:193227800-193237000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:193228200-193235800	Weak transcription	Fetal Kidney	kidney
22	chr1:193228200-193236200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:193228200-193236800	Weak transcription	Fetal Thymus	thymus
24	chr1:193228400-193235400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:193228400-193236600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:193228400-193237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:193228400-193239200	Weak transcription	Aorta	Aorta
28	chr1:193228400-193239400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:193228400-193243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:193228400-193244600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:193229600-193239200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:193229600-193240800	Weak transcription	Gastric	stomach
34	chr1:193230000-193236800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:193230800-193235600	Strong transcription	HSMM	muscle
36	chr1:193231200-193236800	Weak transcription	Fetal Lung	lung
37	chr1:193231600-193251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:193232000-193237200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:193232000-193249400	Weak transcription	Fetal Heart	heart
40	chr1:193232200-193238800	Weak transcription	Primary B cells from cord blood	blood
41	chr1:193232200-193239400	Weak transcription	HSMMtube	muscle
42	chr1:193232200-193239600	Weak transcription	NHLF	lung
43	chr1:193232600-193244600	Weak transcription	Primary T cells from cord blood	blood
44	chr1:193233200-193235400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:193233400-193235400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr1:193234000-193235800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:193234000-193237400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:193234000-193239400	Weak transcription	NH-A	brain
49	chr1:193234000-193239800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:193234600-193235400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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