Variant report

Variant	nsv821892
Chromosome Location	chr2:212242788-212243437
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	chr2:212241135..212244120-chr2:212267640..212269508,2	MCF-7	breast:
2	chr2:212242066..212245151-chr2:212271494..212274404,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115200181	chr2:212242794-212242795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558759131	chr2:212242796-212242797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575486270	chr2:212242814-212242815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561123483	chr2:212242835-212242836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182233743	chr2:212242855-212242856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567525268	chr2:212242860-212242861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554555523	chr2:212242867-212242868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574417774	chr2:212242904-212242905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539796528	chr2:212242965-212242966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185885319	chr2:212242981-212242982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190394415	chr2:212242982-212242983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545217993	chr2:212242988-212242989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182585348	chr2:212242992-212242993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531000657	chr2:212242996-212242997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186951494	chr2:212242997-212242998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191140505	chr2:212242998-212242999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16845990	chr2:212243011-212243012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546283804	chr2:212243075-212243076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114473068	chr2:212243092-212243093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566995166	chr2:212243112-212243113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182536063	chr2:212243186-212243187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187712206	chr2:212243246-212243247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193099507	chr2:212243250-212243251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111290928	chr2:212243253-212243254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554850967	chr2:212243267-212243268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144018296	chr2:212243306-212243307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568224152	chr2:212243317-212243318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58853206	chr2:212243380-212243381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs116395564	chr2:212243391-212243392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576416411	chr2:212243407-212243408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1972820	chr2:212243422-212243423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551671560	chr2:212243431-212243432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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	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
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212237600-212248200	Weak transcription	Aorta	Aorta
2	chr2:212238800-212244400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:212241600-212244400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:212242000-212246600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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