Variant report

Variant	esv1806476
Chromosome Location	chr1:210721874-210724779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12130516	chr1:210721874-210721875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536202010	chr1:210721884-210721885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12138085	chr1:210721900-210721901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542337715	chr1:210722040-210722041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554546039	chr1:210722061-210722062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567193844	chr1:210722064-210722065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187737114	chr1:210722081-210722082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151291295	chr1:210722086-210722087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17016407	chr1:210722098-210722099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141734010	chr1:210722105-210722106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556977781	chr1:210722126-210722127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562626672	chr1:210722136-210722137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191110483	chr1:210722185-210722186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115836052	chr1:210722197-210722198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542618836	chr1:210722202-210722203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371485142	chr1:210722251-210722252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147121194	chr1:210722252-210722253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540637237	chr1:210722381-210722382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12131405	chr1:210722416-210722417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201375073	chr1:210722453-210722454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376618813	chr1:210722461-210722462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550901712	chr1:210722463-210722464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562593205	chr1:210722483-210722484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530155855	chr1:210722506-210722507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548144346	chr1:210722508-210722509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566561272	chr1:210722533-210722534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534590417	chr1:210722541-210722542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565189020	chr1:210722581-210722582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78522989	chr1:210722585-210722586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182094621	chr1:210722650-210722651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116680725	chr1:210722703-210722704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557216139	chr1:210722711-210722712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575379759	chr1:210722753-210722754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536389046	chr1:210722766-210722767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78385509	chr1:210722854-210722855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572841072	chr1:210722882-210722883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540559747	chr1:210722942-210722943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565530632	chr1:210722985-210722986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567305874	chr1:210723001-210723002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577469163	chr1:210723051-210723052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72231481	chr1:210723052-210723053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571192143	chr1:210723054-210723055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544763347	chr1:210723060-210723061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187620231	chr1:210723071-210723072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575543225	chr1:210723077-210723078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530117081	chr1:210723129-210723130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35772087	chr1:210723131-210723132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548303431	chr1:210723219-210723220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560106875	chr1:210723257-210723258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549974741	chr1:210723271-210723272	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210680600-210731000	Weak transcription	HSMM	muscle
2	chr1:210715600-210730800	Weak transcription	HSMMtube	muscle
3	chr1:210719400-210722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:210720200-210722200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:210721000-210722200	Weak transcription	Fetal Heart	heart
6	chr1:210721400-210722000	Enhancers	Left Ventricle	heart
7	chr1:210721400-210722000	Enhancers	Right Ventricle	heart
8	chr1:210722000-210731800	Weak transcription	Right Ventricle	heart
9	chr1:210722200-210722400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:210722200-210722400	Enhancers	Fetal Heart	heart
11	chr1:210724400-210725400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:210724600-210729800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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