Variant report

Variant	esv3321263
Chromosome Location	chr1:225673338-225673913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225662746..225665144-chr1:225672666..225674544,2	MCF-7	breast:
2	chr1:225668772..225671386-chr1:225671515..225673412,2	K562	blood:
3	chr1:225667455..225673405-chr1:225674170..225678275,6	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556619221	chr1:225673390-225673391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540951633	chr1:225673401-225673402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562355823	chr1:225673410-225673411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528939291	chr1:225673442-225673443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550594858	chr1:225673467-225673468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372260666	chr1:225673473-225673474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17500604	chr1:225673474-225673475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12042698	chr1:225673483-225673484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35144270	chr1:225673492-225673493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17500639	chr1:225673516-225673517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566686140	chr1:225673518-225673519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184305697	chr1:225673545-225673546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548905659	chr1:225673587-225673588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567220170	chr1:225673611-225673612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537697725	chr1:225673656-225673657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535957051	chr1:225673671-225673672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556943775	chr1:225673722-225673723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199699991	chr1:225673767-225673768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188209815	chr1:225673783-225673784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17500644	chr1:225673784-225673785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148654648	chr1:225673800-225673801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9804142	chr1:225673847-225673848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs575508458	chr1:225673909-225673910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225655600-225677000	Weak transcription	Right Atrium	heart
2	chr1:225663200-225683800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:225663200-225686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:225663400-225686000	Weak transcription	A549	lung
6	chr1:225666000-225696800	Weak transcription	Esophagus	oesophagus
7	chr1:225667400-225684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:225669000-225687800	Weak transcription	Placenta	Placenta
9	chr1:225669200-225673600	Enhancers	Fetal Muscle Leg	muscle
10	chr1:225669800-225673400	Enhancers	Fetal Brain Male	brain
11	chr1:225669800-225696800	Weak transcription	Pancreas	Pancrea
12	chr1:225670600-225680200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:225670600-225680200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:225670600-225684200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:225670800-225674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:225670800-225674000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:225670800-225674000	Weak transcription	Aorta	Aorta
18	chr1:225670800-225676400	Weak transcription	Fetal Lung	lung
19	chr1:225670800-225676600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:225670800-225676600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:225670800-225676600	Weak transcription	Brain Anterior Caudate	brain
22	chr1:225670800-225676600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:225670800-225677000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:225670800-225680000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:225670800-225680800	Weak transcription	NH-A	brain
26	chr1:225670800-225681000	Weak transcription	HSMM	muscle
27	chr1:225670800-225682200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:225670800-225683800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:225670800-225683800	Weak transcription	HSMMtube	muscle
30	chr1:225670800-225686400	Weak transcription	Ovary	ovary
31	chr1:225670800-225688400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:225671000-225676400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:225671600-225683800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:225671600-225685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:225671800-225680200	Weak transcription	Osteobl	bone
36	chr1:225672000-225676000	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:225672000-225681600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:225672000-225683600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:225672200-225673400	Enhancers	Fetal Thymus	thymus
40	chr1:225672200-225676000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:225672200-225676000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:225672200-225682000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:225672200-225685200	Weak transcription	NHDF-Ad	bronchial
44	chr1:225672200-225696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:225672200-225696800	Weak transcription	Brain Germinal Matrix	brain
46	chr1:225672400-225676000	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:225672400-225676000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:225672400-225676400	Weak transcription	Brain Angular Gyrus	brain
49	chr1:225672400-225676600	Weak transcription	Brain Substantia Nigra	brain
50	chr1:225672400-225676600	Weak transcription	Stomach Smooth Muscle	stomach

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