Variant report

Variant	esv33357
Chromosome Location	chr1:246275322-246276073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246268677..246271213-chr1:246273577..246275515,2	MCF-7	breast:
2	chr1:246268548..246271148-chr1:246275911..246279561,4	K562	blood:
3	chr1:246267866..246270961-chr1:246274168..246280480,6	K562	blood:
4	chr1:246273236..246275581-chr1:246292847..246295788,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182713266	chr1:246275382-246275383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562014430	chr1:246275421-246275422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527698391	chr1:246275449-246275450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543236549	chr1:246275459-246275460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs946150	chr1:246275498-246275499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533310260	chr1:246275558-246275559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76105150	chr1:246275594-246275595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539537281	chr1:246275610-246275611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73141504	chr1:246275657-246275658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs946149	chr1:246275684-246275685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7545261	chr1:246275702-246275703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1572653	chr1:246275716-246275717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1890333	chr1:246275738-246275739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187399094	chr1:246275740-246275741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554818348	chr1:246275753-246275754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79698349	chr1:246275775-246275776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183189130	chr1:246275807-246275808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564804921	chr1:246275824-246275825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188124792	chr1:246275831-246275832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557627782	chr1:246275848-246275849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370845893	chr1:246275854-246275855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192693981	chr1:246275866-246275867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556615736	chr1:246275872-246275873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6426273	chr1:246275900-246275901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541982026	chr1:246275905-246275906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6426274	chr1:246275916-246275917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527932087	chr1:246275953-246275954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541706443	chr1:246275965-246275966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79057035	chr1:246276058-246276059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Multiple myeloma	16616336	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
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246258400-246279800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:246271200-246280200	Weak transcription	HSMM	muscle
3	chr1:246271200-246280400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:246271200-246302200	Weak transcription	Osteobl	bone
5	chr1:246271800-246276800	Weak transcription	Fetal Kidney	kidney
6	chr1:246272200-246277000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:246272400-246312000	Weak transcription	Gastric	stomach
8	chr1:246273800-246275400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr1:246273800-246277000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:246274000-246276800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:246274000-246277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:246274000-246280000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:246274000-246301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:246274200-246277200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:246274200-246277400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:246274400-246276600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:246274600-246275400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:246274600-246275600	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:246274600-246275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:246274800-246275600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:246274800-246276600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:246274800-246276800	Weak transcription	NHLF	lung
23	chr1:246275000-246276600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:246275200-246276600	Enhancers	K562	blood
25	chr1:246275200-246276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:246275400-246276800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:246275400-246277000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:246275600-246276600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:246275600-246276600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:246275600-246276600	Weak transcription	HUVEC	blood vessel
31	chr1:246275600-246276600	Weak transcription	Monocytes-CD14+_RO01746	blood

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