Variant report

Variant	esv3331303
Chromosome Location	chr2:210701957-210704555
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	chr2:210686415..210689045-chr2:210704014..210706614,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575613856	chr2:210701962-210701963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544231737	chr2:210701979-210701980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537992793	chr2:210701996-210701997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555052440	chr2:210702028-210702029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574979248	chr2:210702058-210702059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540877623	chr2:210702128-210702129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141495294	chr2:210702144-210702145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532893170	chr2:210702147-210702148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185212609	chr2:210702213-210702214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563012269	chr2:210702244-210702245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190403741	chr2:210702390-210702391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147086543	chr2:210702411-210702412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568194025	chr2:210702466-210702467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76228141	chr2:210702512-210702513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74506050	chr2:210702513-210702514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78747793	chr2:210702514-210702515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77122914	chr2:210702518-210702519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181548479	chr2:210702527-210702528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11675733	chr2:210702534-210702535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369237766	chr2:210702556-210702557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556423281	chr2:210702561-210702562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368200661	chr2:210702640-210702641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569809194	chr2:210702642-210702643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538276543	chr2:210702644-210702645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542918363	chr2:210702645-210702646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554665370	chr2:210702697-210702698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575016155	chr2:210702737-210702738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10183823	chr2:210702741-210702742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112017087	chr2:210702747-210702748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577534894	chr2:210702758-210702759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546035597	chr2:210702761-210702762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563206452	chr2:210702780-210702781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573230848	chr2:210702784-210702785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531907599	chr2:210702791-210702792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541835478	chr2:210702807-210702808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561331515	chr2:210702880-210702881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540413179	chr2:210702881-210702882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527258904	chr2:210702902-210702903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530190594	chr2:210702909-210702910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547110052	chr2:210702920-210702921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563788846	chr2:210702936-210702937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533159859	chr2:210702964-210702965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549698488	chr2:210702994-210702995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569983467	chr2:210703036-210703037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565182590	chr2:210703101-210703102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535367270	chr2:210703205-210703206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55928661	chr2:210703238-210703239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568483476	chr2:210703264-210703265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534156292	chr2:210703291-210703292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190054383	chr2:210703298-210703299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210680000-210706800	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:210682000-210769600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:210683600-210704000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:210683800-210704200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:210685800-210708400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:210686000-210720400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:210686200-210704000	Weak transcription	Fetal Brain Female	brain
8	chr2:210686400-210703800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:210686400-210705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:210696400-210702000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:210699800-210704000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:210700000-210704000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:210701800-210704000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:210702000-210702400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:210702400-210710000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:210703800-210707800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:210704000-210704400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:210704000-210705200	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr2:210704000-210705400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:210704000-210706000	Strong transcription	Brain Anterior Caudate	brain
21	chr2:210704000-210706000	Strong transcription	Fetal Brain Female	brain
22	chr2:210704200-210706000	Strong transcription	Brain Germinal Matrix	brain
23	chr2:210704400-210706000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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