Variant report

Variant	esv3406576
Chromosome Location	chr1:215381729-215384477
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	chr1:215293562..215295636-chr1:215380314..215382077,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541708586	chr1:215381749-215381750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141833487	chr1:215381767-215381768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543292952	chr1:215381795-215381796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557112489	chr1:215381833-215381834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573997020	chr1:215381947-215381948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542630223	chr1:215381989-215381990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561364318	chr1:215382049-215382050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571476117	chr1:215382071-215382072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78093641	chr1:215382096-215382097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528539955	chr1:215382120-215382121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150778284	chr1:215382201-215382202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116134617	chr1:215382202-215382203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139131165	chr1:215382216-215382217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551309988	chr1:215382237-215382238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149908337	chr1:215382256-215382257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61818356	chr1:215382269-215382270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113748314	chr1:215382288-215382289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60429867	chr1:215382306-215382307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534410669	chr1:215382327-215382328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368185671	chr1:215382360-215382361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532566179	chr1:215382371-215382372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144246837	chr1:215382388-215382389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28433384	chr1:215382405-215382406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28522724	chr1:215382407-215382408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536817627	chr1:215382408-215382409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553680928	chr1:215382425-215382426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557246158	chr1:215382462-215382463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183195720	chr1:215382557-215382558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536661503	chr1:215382565-215382566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553085083	chr1:215382572-215382573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555192914	chr1:215382574-215382575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61724986	chr1:215382584-215382585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573399429	chr1:215382593-215382594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12409062	chr1:215382597-215382598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528553672	chr1:215382607-215382608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569905157	chr1:215382612-215382613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540677984	chr1:215382638-215382639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61373421	chr1:215382646-215382647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58344166	chr1:215382656-215382657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565342638	chr1:215382664-215382665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565233206	chr1:215382665-215382666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67296743	chr1:215382667-215382668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113533466	chr1:215382669-215382670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112632206	chr1:215382673-215382674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59267258	chr1:215382703-215382704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375178550	chr1:215382726-215382727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57107621	chr1:215382732-215382733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59975768	chr1:215382745-215382746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56746607	chr1:215382748-215382749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575930771	chr1:215382756-215382757	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
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215375000-215387200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:215378600-215383600	Weak transcription	NHDF-Ad	bronchial
3	chr1:215380400-215384200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215380600-215408000	Weak transcription	Osteobl	bone
5	chr1:215383600-215384800	Strong transcription	NHDF-Ad	bronchial
6	chr1:215384200-215384800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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