Variant report

Variant	esv3379971
Chromosome Location	chr2:211979308-211979844
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	chr2:211979527..211981470-chr2:211988454..211991128,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186500106	chr2:211979308-211979309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567798442	chr2:211979309-211979310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529594373	chr2:211979311-211979312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200502269	chr2:211979394-211979395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565562785	chr2:211979397-211979398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546452484	chr2:211979411-211979412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116169059	chr2:211979420-211979421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35885433	chr2:211979437-211979438	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115585632	chr2:211979469-211979470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192662967	chr2:211979504-211979505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137897523	chr2:211979505-211979506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554159346	chr2:211979507-211979508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574421172	chr2:211979666-211979667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113771018	chr2:211979675-211979676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58350152	chr2:211979676-211979677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397944848	chr2:211979680-211979681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74900165	chr2:211979681-211979682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377138114	chr2:211979731-211979732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370599891	chr2:211979732-211979733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372892782	chr2:211979746-211979747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553250302	chr2:211979784-211979785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211974200-211979800	Weak transcription	HSMM	muscle
2	chr2:211978400-211979600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:211978600-211979600	Weak transcription	Fetal Brain Female	brain
4	chr2:211979400-211980600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:211979600-211980000	Enhancers	Fetal Brain Female	brain
6	chr2:211979600-211980800	Enhancers	Brain Germinal Matrix	brain
7	chr2:211979800-211980200	Enhancers	HSMMtube	muscle
8	chr2:211979800-211980600	Enhancers	Fetal Brain Male	brain
9	chr2:211979800-211981000	Enhancers	HSMM	muscle

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