Variant report

Variant	esv2763680
Chromosome Location	chr1:215855883-215870683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215742124..215744108-chr1:215859791..215861523,2	K562	blood:
2	chr1:215852361..215855087-chr1:215863901..215865642,2	MCF-7	breast:
3	chr1:215857076..215858838-chr1:215859681..215861517,2	K562	blood:
4	chr1:215857076..215858838-chr1:215859681..215861517,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2820673	chr1:215855883-215855884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372847023	chr1:215855962-215855963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565990013	chr1:215855987-215855988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377468446	chr1:215855999-215856000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58631485	chr1:215856053-215856054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11413043	chr1:215856095-215856096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34449137	chr1:215856096-215856097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78453072	chr1:215856097-215856098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2820674	chr1:215856120-215856121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182433092	chr1:215856172-215856173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539278418	chr1:215857045-215857046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2820680	chr1:215857049-215857050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72739281	chr1:215857146-215857147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575404788	chr1:215857289-215857290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113280254	chr1:215857295-215857296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543348471	chr1:215857300-215857301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5780844	chr1:215857317-215857318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397800471	chr1:215857318-215857319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114450203	chr1:215857335-215857336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1418696	chr1:215857398-215857399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542255624	chr1:215857410-215857411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552977347	chr1:215857415-215857416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193145114	chr1:215857430-215857431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545244085	chr1:215857524-215857525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565201789	chr1:215857546-215857547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530707171	chr1:215857600-215857601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545841739	chr1:215857614-215857615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139875299	chr1:215857646-215857647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371770787	chr1:215857651-215857652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561362532	chr1:215857661-215857662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113496869	chr1:215857690-215857691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs60291699	chr1:215857726-215857727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559384997	chr1:215857741-215857742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11120599	chr1:215857775-215857776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568313842	chr1:215867018-215867019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138760289	chr1:215867020-215867021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142034965	chr1:215867037-215867038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115677918	chr1:215867091-215867092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555025677	chr1:215867111-215867112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571846730	chr1:215867158-215867159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540734086	chr1:215867178-215867179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12408717	chr1:215867238-215867239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs182977893	chr1:215867260-215867261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556003755	chr1:215867327-215867328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376421946	chr1:215867370-215867371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12062230	chr1:215867385-215867386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563468415	chr1:215867398-215867399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373644589	chr1:215867461-215867462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76158293	chr1:215867491-215867492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77227091	chr1:215867512-215867513	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215855400-215856200	Enhancers	Liver	Liver
2	chr1:215855600-215856000	Enhancers	Fetal Kidney	kidney
3	chr1:215857000-215857800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:215867000-215867800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:215867800-215868400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:215868400-215868600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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