Variant report

Variant	esv2652396
Chromosome Location	chr1:216164043-216165519
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	chr1:216164234..216166867-chr1:216167548..216169584,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116665492	chr1:216164046-216164047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12567932	chr1:216164054-216164055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561326474	chr1:216164060-216164061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35293238	chr1:216164103-216164104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397860961	chr1:216164121-216164122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11120708	chr1:216164144-216164145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573842826	chr1:216164152-216164153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560883977	chr1:216164178-216164179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182090419	chr1:216164189-216164190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552804476	chr1:216164235-216164236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569122523	chr1:216164260-216164261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185794827	chr1:216164275-216164276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550264051	chr1:216164294-216164295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs772716	chr1:216164302-216164303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4655440	chr1:216164383-216164384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576333793	chr1:216164412-216164413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs207461107	chr1:216164439-216164440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535769779	chr1:216164519-216164520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143698325	chr1:216164548-216164549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369256797	chr1:216164555-216164556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369849002	chr1:216164559-216164560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558859021	chr1:216164562-216164563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555648371	chr1:216164580-216164581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17025831	chr1:216164586-216164587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544377445	chr1:216164602-216164603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555148917	chr1:216164616-216164617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189927552	chr1:216164652-216164653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540658617	chr1:216164656-216164657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147215245	chr1:216164660-216164661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532500244	chr1:216164684-216164685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376250481	chr1:216164738-216164739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148672263	chr1:216164795-216164796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562794165	chr1:216164864-216164865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531830563	chr1:216164934-216164935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142166396	chr1:216165016-216165017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75416611	chr1:216165017-216165018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577861870	chr1:216165019-216165020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529731270	chr1:216165021-216165022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546647355	chr1:216165087-216165088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566360317	chr1:216165093-216165094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538590186	chr1:216165099-216165100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17025835	chr1:216165114-216165115	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569172735	chr1:216165138-216165139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540480807	chr1:216165145-216165146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181661289	chr1:216165191-216165192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554792488	chr1:216165201-216165202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12036111	chr1:216165211-216165212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560382541	chr1:216165259-216165260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574907653	chr1:216165269-216165270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1821763	chr1:216165271-216165272	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216150400-216166200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:216161000-216168000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:216164800-216165600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:216164800-216165600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:216164800-216165800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:216165000-216165200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:216165000-216166600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:216165200-216166200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:216165200-216166800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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