Variant report

Variant	nsv979171
Chromosome Location	chr2:213391107-213391783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6435708	chr2:213391114-213391115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564765312	chr2:213391117-213391118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187900615	chr2:213391136-213391137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6435709	chr2:213391220-213391221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559389245	chr2:213391223-213391224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146800528	chr2:213391264-213391265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191308108	chr2:213391312-213391313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573433933	chr2:213391315-213391316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569654946	chr2:213391416-213391417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530703689	chr2:213391418-213391419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139500067	chr2:213391471-213391472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570349058	chr2:213391501-213391502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183849667	chr2:213391504-213391505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7556832	chr2:213391506-213391507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568071696	chr2:213391545-213391546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535483702	chr2:213391555-213391556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186920317	chr2:213391560-213391561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575661993	chr2:213391612-213391613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7573568	chr2:213391696-213391697	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573778637	chr2:213391707-213391708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16848762	chr2:213391735-213391736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs2178576	chr2:213391750-213391751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562380101	chr2:213391753-213391754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574438741	chr2:213391759-213391760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2178575	chr2:213391766-213391767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563363466	chr2:213391771-213391772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213382600-213391800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:213383600-213392200	Weak transcription	Aorta	Aorta
3	chr2:213384400-213395400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:213388800-213392800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:213390600-213391600	Weak transcription	Fetal Heart	heart
6	chr2:213391600-213399200	Enhancers	Fetal Heart	heart

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