Variant report

Variant	esv3354519
Chromosome Location	chr1:246137429-246141827
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
2	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
3	chr1:246122598..246124565-chr1:246135159..246137741,2	K562	blood:
4	chr1:246140863..246143596-chr1:246281335..246283913,2	K562	blood:
5	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
6	chr1:246130619..246132818-chr1:246134043..246137611,3	K562	blood:
7	chr1:246140596..246144250-chr1:246144492..246152738,12	K562	blood:
8	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
9	chr1:246129149..246130792-chr1:246136104..246138621,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185420	chromatin interactions

Extended variants
information (count: 286 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188978500	chr1:246137544-246137545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78542389	chr1:246137587-246137588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146070602	chr1:246137724-246137725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570102844	chr1:246137745-246137746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529499961	chr1:246137776-246137777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549254985	chr1:246137777-246137778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566078024	chr1:246137779-246137780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371576510	chr1:246137780-246137781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114209253	chr1:246137781-246137782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12411198	chr1:246137782-246137783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12406180	chr1:246137783-246137784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111885738	chr1:246137811-246137812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537121941	chr1:246137816-246137817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112342407	chr1:246137835-246137836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112605553	chr1:246137883-246137884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71563767	chr1:246137927-246137928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527939224	chr1:246137979-246137980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12406211	chr1:246138023-246138024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12411215	chr1:246138027-246138028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71636598	chr1:246138191-246138192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57220437	chr1:246138214-246138215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71636599	chr1:246138219-246138220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74186680	chr1:246138238-246138239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57683438	chr1:246138239-246138240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66491133	chr1:246138243-246138244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111646869	chr1:246138260-246138261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71563768	chr1:246138262-246138263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539655745	chr1:246138291-246138292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77239519	chr1:246138334-246138335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77308238	chr1:246138339-246138340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78727686	chr1:246138358-246138359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78649740	chr1:246138359-246138360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75213819	chr1:246138363-246138364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35720864	chr1:246138382-246138383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80272827	chr1:246138406-246138407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563563530	chr1:246138407-246138408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55681259	chr1:246138409-246138410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74804574	chr1:246138411-246138412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78192803	chr1:246138429-246138430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573716180	chr1:246138430-246138431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75294104	chr1:246138435-246138436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370655008	chr1:246138455-246138456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76438133	chr1:246138459-246138460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71498933	chr1:246138478-246138479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571947311	chr1:246138479-246138480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79101863	chr1:246138483-246138484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77817934	chr1:246138502-246138503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76981809	chr1:246138507-246138508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570457965	chr1:246138670-246138671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371094206	chr1:246138671-246138672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:14 , 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	--
11	chr1:246141200-246141400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:246141200-246141600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:246141200-246144600	Strong transcription	K562	blood
14	chr1:246141400-246143400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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