Variant report

Variant	esv3376675
Chromosome Location	chr1:210178929-210181827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552573716	chr1:210178950-210178951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369704855	chr1:210179041-210179042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191749421	chr1:210179151-210179152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538619380	chr1:210179275-210179276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556333712	chr1:210179359-210179360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372375631	chr1:210179368-210179369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569082172	chr1:210179411-210179412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536416490	chr1:210179433-210179434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554924401	chr1:210179470-210179471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573203968	chr1:210179478-210179479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146874740	chr1:210179575-210179576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558563533	chr1:210179639-210179640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377318654	chr1:210179640-210179641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12239153	chr1:210179666-210179667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373270647	chr1:210179698-210179699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202104805	chr1:210179710-210179711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200411860	chr1:210179744-210179745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs227214	chr1:210179775-210179776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530249118	chr1:210179776-210179777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541993957	chr1:210179855-210179856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560295709	chr1:210179925-210179926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528015996	chr1:210179930-210179931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140545082	chr1:210179981-210179982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567546949	chr1:210180054-210180055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564506325	chr1:210180229-210180230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184201711	chr1:210180271-210180272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550264586	chr1:210180274-210180275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145627669	chr1:210180285-210180286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188947124	chr1:210180343-210180344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548440323	chr1:210180348-210180349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544859958	chr1:210180368-210180369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552964616	chr1:210180404-210180405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192480010	chr1:210180443-210180444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145265679	chr1:210180472-210180473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35770090	chr1:210180475-210180476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs227215	chr1:210180530-210180531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185842808	chr1:210180635-210180636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556247559	chr1:210180644-210180645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17318388	chr1:210180651-210180652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541512804	chr1:210180670-210180671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560359535	chr1:210180699-210180700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11578500	chr1:210180727-210180728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181001300	chr1:210180748-210180749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74891420	chr1:210180763-210180764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79024218	chr1:210180764-210180765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75846685	chr1:210180765-210180766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79844300	chr1:210180766-210180767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542299852	chr1:210180775-210180776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116370920	chr1:210180780-210180781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564589938	chr1:210180782-210180783	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
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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210162800-210189200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210177200-210181000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:210181000-210184600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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