Variant report

Variant	esv1848483
Chromosome Location	chr1:242946450-242988232
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	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:
2	chr1:242938370..242940205-chr1:242949135..242951746,2	K562	blood:

Extended variants
information (count: 521 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551669989	chr1:242946510-242946511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571140758	chr1:242946534-242946535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559881877	chr1:242946552-242946553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142911897	chr1:242946562-242946563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573737246	chr1:242946564-242946565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536354493	chr1:242946596-242946597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533473708	chr1:242946612-242946613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2095262	chr1:242946641-242946642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs569355427	chr1:242946658-242946659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545358594	chr1:242946682-242946683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187891073	chr1:242946689-242946690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530387147	chr1:242946722-242946723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549067742	chr1:242946728-242946729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544237654	chr1:242946729-242946730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567219812	chr1:242946750-242946751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560957957	chr1:242946761-242946762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35217174	chr1:242946771-242946772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530091358	chr1:242946787-242946788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528792611	chr1:242946788-242946789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559248638	chr1:242946790-242946791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528323011	chr1:242946874-242946875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551365798	chr1:242946875-242946876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571616808	chr1:242946880-242946881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145183250	chr1:242946924-242946925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2809869	chr1:242946925-242946926	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567292105	chr1:242946933-242946934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536317654	chr1:242946978-242946979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553063516	chr1:242947021-242947022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115701207	chr1:242947024-242947025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552923543	chr1:242947035-242947036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539266194	chr1:242947038-242947039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149251943	chr1:242947053-242947054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538982115	chr1:242947054-242947055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112827887	chr1:242947084-242947085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191229589	chr1:242947103-242947104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557283695	chr1:242947114-242947115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544508426	chr1:242947189-242947190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554517340	chr1:242947227-242947228	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574511099	chr1:242947231-242947232	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540356262	chr1:242947251-242947252	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12080393	chr1:242947252-242947253	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76011188	chr1:242947265-242947266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576514059	chr1:242947295-242947296	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144432926	chr1:242947318-242947319	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs116154018	chr1:242947327-242947328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs530796243	chr1:242947402-242947403	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs370823713	chr1:242947420-242947421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550909078	chr1:242947422-242947423	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74944353	chr1:242947478-242947479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529718763	chr1:242947501-242947502	Weak transcription Enhancers Flanking Active TSS	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242941800-242948000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:242945800-242955000	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:242946200-242947200	Enhancers	Primary B cells from cord blood	blood
4	chr1:242946200-242947200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:242947000-242947600	Enhancers	Brain Hippocampus Middle	brain
6	chr1:242947200-242947400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:242947200-242947600	Enhancers	Brain Substantia Nigra	brain
8	chr1:242947200-242948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:242947200-242948000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:242947200-242948000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr1:242947200-242948200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:242947200-242948400	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:242947200-242948600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:242947200-242948600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:242947200-242948600	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:242947200-242948600	Enhancers	HSMMtube	muscle
17	chr1:242947200-242948800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:242947400-242947800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:242947400-242947800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:242947400-242948200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:242947400-242948400	Enhancers	Brain Angular Gyrus	brain
22	chr1:242947400-242948600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:242947400-242948600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:242947600-242948000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:242947600-242948000	Enhancers	Brain Germinal Matrix	brain
26	chr1:242947600-242948200	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr1:242947600-242948400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr1:242947600-242948800	Enhancers	HSMM	muscle
29	chr1:242947800-242948600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:242948000-242948200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:242948000-242948200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:242948000-242948400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:242948000-242948400	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:242948000-242951800	Enhancers	Primary B cells from cord blood	blood
35	chr1:242948200-242948400	Enhancers	GM12878-XiMat	blood
36	chr1:242948200-242948800	Enhancers	Brain Substantia Nigra	brain
37	chr1:242948200-242950800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:242948400-242948800	Enhancers	Brain Hippocampus Middle	brain
39	chr1:242948400-242950600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:242948400-242951800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:242948600-242950600	Weak transcription	HSMMtube	muscle
42	chr1:242948800-242950800	Weak transcription	HSMM	muscle
43	chr1:242948800-242951800	Weak transcription	GM12878-XiMat	blood
44	chr1:242950600-242950800	ZNF genes & repeats	HSMMtube	muscle
45	chr1:242950600-242951000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:242950600-242951200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:242950600-242951400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:242950800-242951000	Enhancers	HSMM	muscle
49	chr1:242950800-242951200	Weak transcription	HSMMtube	muscle
50	chr1:242950800-242952000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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