Variant report

Variant	esv3358599
Chromosome Location	chr2:211991114-211991598
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:
2	chr2:211989762..211992437-chr2:211995215..211997517,2	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	rs140335610	chr2:211991121-211991122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371618513	chr2:211991123-211991124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376679681	chr2:211991126-211991127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560746995	chr2:211991150-211991151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529867191	chr2:211991151-211991152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540121277	chr2:211991195-211991196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6723493	chr2:211991229-211991230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs150213916	chr2:211991234-211991235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572928919	chr2:211991240-211991241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138778389	chr2:211991262-211991263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148959310	chr2:211991314-211991315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183053842	chr2:211991367-211991368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78453869	chr2:211991395-211991396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35218600	chr2:211991437-211991438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567841546	chr2:211991438-211991439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536805091	chr2:211991444-211991445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187388023	chr2:211991489-211991490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13400493	chr2:211991518-211991519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7574280	chr2:211991553-211991554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191918519	chr2:211991563-211991564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538561570	chr2:211991566-211991567	Enhancers	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211989000-211991600	Enhancers	Brain Germinal Matrix	brain
2	chr2:211991000-211991800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:211991000-211991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:211991000-211991800	Enhancers	Fetal Intestine Small	intestine

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