Variant report

Variant	esv1822728
Chromosome Location	chr1:242950150-242981923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242938370..242940205-chr1:242949135..242951746,2	K562	blood:
2	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:

Extended variants
information (count: 324 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575342376	chr1:242950168-242950169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563652404	chr1:242950189-242950190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137908236	chr1:242950252-242950253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191406160	chr1:242950260-242950261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570335816	chr1:242950268-242950269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184056586	chr1:242950298-242950299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149446845	chr1:242950445-242950446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575627466	chr1:242950449-242950450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188953190	chr1:242950482-242950483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541499331	chr1:242950521-242950522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372453934	chr1:242950534-242950535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191008694	chr1:242950535-242950536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541141631	chr1:242950624-242950625	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564634657	chr1:242950628-242950629	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147178847	chr1:242950629-242950630	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs182425214	chr1:242950633-242950634	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372012415	chr1:242950653-242950654	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560765889	chr1:242950656-242950657	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs528080017	chr1:242950685-242950686	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs138710793	chr1:242950753-242950754	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529296329	chr1:242950767-242950768	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs549069509	chr1:242950774-242950775	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs534903376	chr1:242950826-242950827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370996468	chr1:242950905-242950906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566070618	chr1:242950906-242950907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186719666	chr1:242950928-242950929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528552181	chr1:242950957-242950958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142827184	chr1:242951001-242951002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374412361	chr1:242951004-242951005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546387183	chr1:242951050-242951051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564925684	chr1:242951066-242951067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2809894	chr1:242951094-242951095	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147409449	chr1:242951147-242951148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549652996	chr1:242951153-242951154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148448648	chr1:242951158-242951159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535744080	chr1:242951195-242951196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191860525	chr1:242951233-242951234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368108651	chr1:242951259-242951260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76956888	chr1:242951305-242951306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142697054	chr1:242951312-242951313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184612207	chr1:242951331-242951332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544070861	chr1:242951336-242951337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79835178	chr1:242951385-242951386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73113986	chr1:242951392-242951393	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs367926251	chr1:242951409-242951410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139273581	chr1:242951423-242951424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559456023	chr1:242951445-242951446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528512022	chr1:242951468-242951469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551579479	chr1:242951477-242951478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565075542	chr1:242951508-242951509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242945800-242955000	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:242948000-242951800	Enhancers	Primary B cells from cord blood	blood
3	chr1:242948200-242950800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:242948400-242950600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:242948400-242951800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:242948600-242950600	Weak transcription	HSMMtube	muscle
7	chr1:242948800-242950800	Weak transcription	HSMM	muscle
8	chr1:242948800-242951800	Weak transcription	GM12878-XiMat	blood
9	chr1:242950600-242950800	ZNF genes & repeats	HSMMtube	muscle
10	chr1:242950600-242951000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:242950600-242951200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:242950600-242951400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:242950800-242951000	Enhancers	HSMM	muscle
14	chr1:242950800-242951200	Weak transcription	HSMMtube	muscle
15	chr1:242950800-242952000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:242950800-242952200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:242951000-242952200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:242951000-242952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:242951200-242951400	Enhancers	HSMMtube	muscle
20	chr1:242951200-242951800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:242951400-242951600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:242951400-242951800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:242951800-242952200	Enhancers	Primary hematopoietic stem cells	blood
24	chr1:242951800-242952200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:242951800-242952600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr1:242951800-242953000	Enhancers	GM12878-XiMat	blood
27	chr1:242952600-242953800	Enhancers	Primary B cells from cord blood	blood
28	chr1:242952800-242953000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:242953000-242953400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:242953400-242954000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:242953600-242954000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:242953600-242954400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:242953800-242955800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:242954800-242955200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:242955200-242955400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr1:242955800-242956000	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr1:242963600-242964000	Enhancers	GM12878-XiMat	blood
38	chr1:242974000-242975000	Enhancers	HMEC	breast
39	chr1:242974600-242975200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:242976400-242976600	Enhancers	GM12878-XiMat	blood
41	chr1:242976400-242977000	Enhancers	Primary B cells from cord blood	blood
42	chr1:242976400-242977200	Enhancers	Primary B cells from peripheral blood	blood
43	chr1:242976600-242977200	Flanking Active TSS	GM12878-XiMat	blood
44	chr1:242977200-242977400	Enhancers	GM12878-XiMat	blood

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