Variant report

Variant	esv3321106
Chromosome Location	chr1:210720529-210726827
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	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:

Extended variants
information (count: 242 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551756990	chr1:210720533-210720534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537762410	chr1:210720545-210720546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549563935	chr1:210720571-210720572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373970314	chr1:210720573-210720574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567888102	chr1:210720576-210720577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202168329	chr1:210720578-210720579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71806400	chr1:210720579-210720580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374382529	chr1:210720580-210720581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533890198	chr1:210720594-210720595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535120605	chr1:210720595-210720596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188103843	chr1:210720616-210720617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547387335	chr1:210720793-210720794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538611455	chr1:210720830-210720831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114955394	chr1:210720894-210720895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576224699	chr1:210720906-210720907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543344407	chr1:210720912-210720913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17016399	chr1:210720914-210720915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146511624	chr1:210720994-210720995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180721538	chr1:210721044-210721045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185165640	chr1:210721064-210721065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191243819	chr1:210721065-210721066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139836751	chr1:210721077-210721078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17188344	chr1:210721080-210721081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557061279	chr1:210721086-210721087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143153297	chr1:210721089-210721090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12079415	chr1:210721132-210721133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561611876	chr1:210721142-210721143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567851614	chr1:210721146-210721147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17016400	chr1:210721150-210721151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145516472	chr1:210721214-210721215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386639013	chr1:210721216-210721217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540783626	chr1:210721226-210721227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148837415	chr1:210721251-210721252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538061135	chr1:210721257-210721258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557063779	chr1:210721309-210721310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577365969	chr1:210721341-210721342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113345025	chr1:210721365-210721366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181316381	chr1:210721367-210721368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536942873	chr1:210721380-210721381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555280197	chr1:210721402-210721403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371217469	chr1:210721406-210721407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186952400	chr1:210721412-210721413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540780813	chr1:210721415-210721416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553153522	chr1:210721417-210721418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557727984	chr1:210721422-210721423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12072976	chr1:210721449-210721450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142415766	chr1:210721461-210721462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528456513	chr1:210721474-210721475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191698981	chr1:210721489-210721490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530562634	chr1:210721498-210721499	Weak transcription Enhancers	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210680600-210731000	Weak transcription	HSMM	muscle
2	chr1:210715400-210721000	Weak transcription	Ovary	ovary
3	chr1:210715600-210730800	Weak transcription	HSMMtube	muscle
4	chr1:210718800-210721400	Weak transcription	Right Ventricle	heart
5	chr1:210719000-210721400	Weak transcription	Left Ventricle	heart
6	chr1:210719400-210722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:210720200-210720800	Weak transcription	Fetal Heart	heart
8	chr1:210720200-210722200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:210720800-210721000	Enhancers	Fetal Heart	heart
10	chr1:210721000-210721200	Enhancers	Ovary	ovary
11	chr1:210721000-210722200	Weak transcription	Fetal Heart	heart
12	chr1:210721400-210722000	Enhancers	Left Ventricle	heart
13	chr1:210721400-210722000	Enhancers	Right Ventricle	heart
14	chr1:210722000-210731800	Weak transcription	Right Ventricle	heart
15	chr1:210722200-210722400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:210722200-210722400	Enhancers	Fetal Heart	heart
17	chr1:210724400-210725400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:210724600-210729800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:210724800-210725600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:210725000-210725800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr1:210725400-210727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:210725600-210729600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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