Variant report

Variant	esv3389740
Chromosome Location	chr1:211283829-211286827
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	chr1:211276107..211279253-chr1:211280541..211283887,3	K562	blood:
2	chr1:211286371..211288310-chr1:211289834..211292347,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537130978	chr1:211283844-211283845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536911778	chr1:211283860-211283861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1538289	chr1:211283875-211283876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569510608	chr1:211283912-211283913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574693912	chr1:211283933-211283934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35286074	chr1:211283963-211283964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35091753	chr1:211283985-211283986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560156812	chr1:211283989-211283990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1538288	chr1:211284011-211284012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142005630	chr1:211284041-211284042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572273151	chr1:211284048-211284049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199545153	chr1:211284058-211284059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4951505	chr1:211284060-211284061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552584075	chr1:211284114-211284115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4951506	chr1:211284128-211284129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550179809	chr1:211284143-211284144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145755293	chr1:211284322-211284323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77246981	chr1:211284356-211284357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182167270	chr1:211284362-211284363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565706173	chr1:211284440-211284441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539523077	chr1:211284441-211284442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551468433	chr1:211284451-211284452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569721448	chr1:211284581-211284582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529069207	chr1:211284598-211284599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142503322	chr1:211284624-211284625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148856976	chr1:211284643-211284644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538037282	chr1:211284653-211284654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368389070	chr1:211284671-211284672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534649120	chr1:211284693-211284694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563378369	chr1:211284721-211284722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185429043	chr1:211284726-211284727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572142825	chr1:211284765-211284766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78357656	chr1:211284815-211284816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558253802	chr1:211284820-211284821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117503748	chr1:211284842-211284843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191366735	chr1:211284852-211284853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562191705	chr1:211284876-211284877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148353889	chr1:211284918-211284919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541778656	chr1:211284967-211284968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61099314	chr1:211284974-211284975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183199558	chr1:211285010-211285011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142097300	chr1:211285035-211285036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188658124	chr1:211285089-211285090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28461790	chr1:211285114-211285115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569738921	chr1:211285150-211285151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372126375	chr1:211285151-211285152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376748003	chr1:211285172-211285173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56741924	chr1:211285187-211285188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549160001	chr1:211285202-211285203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374079471	chr1:211285209-211285210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	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
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
Glioblastoma multiforme	17002787	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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211256400-211285400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:211271400-211286000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:211280800-211290800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:211280800-211300200	Weak transcription	HSMMtube	muscle
5	chr1:211282400-211286400	Weak transcription	HSMM	muscle
6	chr1:211284600-211284800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:211285400-211285600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:211285600-211299400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:211286000-211288000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:211286400-211287000	Strong transcription	HSMM	muscle
11	chr1:211286800-211287800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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