Variant report

Variant	esv3436548
Chromosome Location	chr1:246138554-246141102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
2	chr1:246140863..246143596-chr1:246281335..246283913,2	K562	blood:
3	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
4	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
5	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
6	chr1:246129149..246130792-chr1:246136104..246138621,2	K562	blood:
7	chr1:246140596..246144250-chr1:246144492..246152738,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185420	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570457965	chr1:246138670-246138671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371094206	chr1:246138671-246138672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56870576	chr1:246138694-246138695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553973234	chr1:246138695-246138696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374502513	chr1:246138699-246138700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367573957	chr1:246138718-246138719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372118283	chr1:246138742-246138743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375142979	chr1:246138743-246138744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567574464	chr1:246138747-246138748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368320395	chr1:246138766-246138767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59676905	chr1:246138885-246138886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71585184	chr1:246138891-246138892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199987192	chr1:246138905-246138906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377028172	chr1:246138915-246138916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567717438	chr1:246138958-246138959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569269405	chr1:246138982-246138983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200828926	chr1:246138983-246138984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201603787	chr1:246139049-246139050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79178092	chr1:246139054-246139055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60960017	chr1:246139055-246139056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398089048	chr1:246139083-246139084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372269153	chr1:246139101-246139102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74799617	chr1:246139126-246139127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74469738	chr1:246139127-246139128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368846157	chr1:246139174-246139175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372899190	chr1:246139175-246139176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375865591	chr1:246139179-246139180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61839385	chr1:246139217-246139218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77551440	chr1:246139223-246139224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184070756	chr1:246139227-246139228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369167293	chr1:246139240-246139241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111424212	chr1:246139245-246139246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376206130	chr1:246139251-246139252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113005204	chr1:246139264-246139265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371539582	chr1:246139270-246139271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373295712	chr1:246139275-246139276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74979775	chr1:246139299-246139300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573206256	chr1:246139317-246139318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370100987	chr1:246139318-246139319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374802362	chr1:246139323-246139324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368077414	chr1:246139342-246139343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370634822	chr1:246139343-246139344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375830903	chr1:246139347-246139348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368252044	chr1:246139371-246139372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545335691	chr1:246139373-246139374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372794500	chr1:246139390-246139391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375770022	chr1:246139391-246139392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367743563	chr1:246139395-246139396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374739084	chr1:246139438-246139439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61839402	chr1:246139443-246139444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246121000-246166200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:246127600-246141200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:246131200-246143200	Weak transcription	Aorta	Aorta
4	chr1:246132400-246142800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:246132800-246141200	Weak transcription	K562	blood
6	chr1:246132800-246142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:246133000-246149800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:246133200-246142000	Weak transcription	Osteobl	bone
9	chr1:246133400-246142200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:246141000-246141400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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