Variant report

Variant	nsv516174
Chromosome Location	chr2:213183696-213192660
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	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:

Extended variants
information (count: 451 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1910866	chr2:213183696-213183697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575591016	chr2:213183715-213183716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182933255	chr2:213183750-213183751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558066610	chr2:213183759-213183760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4300779	chr2:213183765-213183766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537296735	chr2:213183811-213183812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557125893	chr2:213183837-213183838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188672432	chr2:213183851-213183852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370942314	chr2:213183864-213183865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115812582	chr2:213183870-213183871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2888053	chr2:213183874-213183875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4541205	chr2:213183891-213183892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs193014710	chr2:213183908-213183909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545398264	chr2:213183923-213183924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10178064	chr2:213183933-213183934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565225393	chr2:213183966-213183967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185640605	chr2:213183981-213183982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530803214	chr2:213184037-213184038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78585560	chr2:213184047-213184048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73068269	chr2:213184054-213184055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529869053	chr2:213184064-213184065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141788834	chr2:213184073-213184074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74800522	chr2:213184100-213184101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532009433	chr2:213184134-213184135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188953232	chr2:213184136-213184137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571651033	chr2:213184142-213184143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537358408	chr2:213184174-213184175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550816342	chr2:213184200-213184201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539523371	chr2:213184342-213184343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16848343	chr2:213184355-213184356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536821439	chr2:213184392-213184393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147082345	chr2:213184482-213184483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73068270	chr2:213184518-213184519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539076742	chr2:213184534-213184535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376656571	chr2:213184545-213184546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144147224	chr2:213184580-213184581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559000869	chr2:213184616-213184617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575661247	chr2:213184617-213184618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544536579	chr2:213184628-213184629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191187182	chr2:213184632-213184633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183750251	chr2:213184645-213184646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540403154	chr2:213184685-213184686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560039030	chr2:213184743-213184744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11891107	chr2:213184768-213184769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs77197232	chr2:213184793-213184794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562148057	chr2:213184803-213184804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12694271	chr2:213184822-213184823	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs149474834	chr2:213184841-213184842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567933988	chr2:213184842-213184843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188422508	chr2:213184856-213184857	Weak transcription Enhancers	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
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
3	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
4	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
5	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
6	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
7	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
8	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
9	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
10	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:213192000-213192200	Enhancers	Fetal Lung	lung
12	chr2:213192000-213192200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:213192000-213192400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:213192000-213192400	Enhancers	A549	lung
15	chr2:213192000-213193000	Enhancers	Fetal Intestine Large	intestine
16	chr2:213192000-213193000	Enhancers	HepG2	liver
17	chr2:213192200-213193000	Weak transcription	Fetal Lung	lung
18	chr2:213192200-213193000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr2:213192600-213193800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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