Variant report

Variant	esv3370238
Chromosome Location	chr1:215006479-215008777
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	chr1:214999141..215002112-chr1:215005373..215009068,3	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137975933	chr1:215006492-215006493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552571573	chr1:215006514-215006515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183114843	chr1:215006518-215006519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114542132	chr1:215006552-215006553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142574111	chr1:215006568-215006569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576840678	chr1:215006576-215006577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115109011	chr1:215006654-215006655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541162349	chr1:215006663-215006664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187999893	chr1:215006667-215006668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192618569	chr1:215006745-215006746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570768539	chr1:215006824-215006825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539758941	chr1:215006837-215006838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558109621	chr1:215006838-215006839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554375720	chr1:215006874-215006875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574327232	chr1:215006884-215006885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367617275	chr1:215006922-215006923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11587867	chr1:215006939-215006940	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554414613	chr1:215007009-215007010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9429920	chr1:215007029-215007030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527684070	chr1:215007079-215007080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544115042	chr1:215007104-215007105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540016348	chr1:215007157-215007158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554026397	chr1:215007160-215007161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577642275	chr1:215007193-215007194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368828884	chr1:215007226-215007227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143931420	chr1:215007234-215007235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545521825	chr1:215007244-215007245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546145484	chr1:215007284-215007285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182261528	chr1:215007287-215007288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562853466	chr1:215007316-215007317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531646573	chr1:215007329-215007330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376609291	chr1:215007333-215007334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369283327	chr1:215007338-215007339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546394913	chr1:215007343-215007344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12140233	chr1:215007384-215007385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12139434	chr1:215007390-215007391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375742562	chr1:215007396-215007397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529234417	chr1:215007400-215007401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372700547	chr1:215007404-215007405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375788731	chr1:215007405-215007406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369941792	chr1:215007407-215007408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373095707	chr1:215007410-215007411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559941015	chr1:215007411-215007412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376315621	chr1:215007416-215007417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372867052	chr1:215007418-215007419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376894994	chr1:215007419-215007420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370267833	chr1:215007424-215007425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374469660	chr1:215007430-215007431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376939387	chr1:215007431-215007432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371435025	chr1:215007432-215007433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215002000-215019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:215004800-215007200	Enhancers	HepG2	liver
3	chr1:215005800-215007200	Enhancers	NHDF-Ad	bronchial
4	chr1:215006000-215007200	Enhancers	Osteobl	bone
5	chr1:215006000-215007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:215006200-215007200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:215006200-215007400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:215006400-215007200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:215006400-215007200	Enhancers	NH-A	brain
10	chr1:215007000-215009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:215007200-215010400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:215007200-215010400	Weak transcription	NHDF-Ad	bronchial
13	chr1:215007200-215010600	Weak transcription	Osteobl	bone
14	chr1:215007200-215010800	Weak transcription	NH-A	brain
15	chr1:215007200-215011000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:215007400-215007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:215007400-215011000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:215007800-215008000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:215007800-215008800	Enhancers	Adipose Nuclei	Adipose
20	chr1:215008000-215011400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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