Variant report

Variant	nsv962098
Chromosome Location	chr2:212797395-212802074
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	chr2:212802067..212803693-chr2:212817680..212819579,2	MCF-7	breast:

Extended variants
information (count: 178 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540265265	chr2:212797401-212797402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560573962	chr2:212797432-212797433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368566245	chr2:212797501-212797502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187882138	chr2:212797566-212797567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562462347	chr2:212797657-212797658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149885677	chr2:212797698-212797699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548396132	chr2:212797715-212797716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147214545	chr2:212797738-212797739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371466900	chr2:212797778-212797779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533938194	chr2:212797813-212797814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140650398	chr2:212797819-212797820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191183053	chr2:212797831-212797832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527279955	chr2:212797832-212797833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183688238	chr2:212797882-212797883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144404201	chr2:212797889-212797890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372070946	chr2:212797927-212797928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17336280	chr2:212797935-212797936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147811244	chr2:212797964-212797965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56970655	chr2:212797974-212797975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114290351	chr2:212797979-212797980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540680784	chr2:212797997-212797998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186874591	chr2:212798136-212798137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576795914	chr2:212798162-212798163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545807181	chr2:212798194-212798195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192929236	chr2:212798198-212798199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531526674	chr2:212798217-212798218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148878501	chr2:212798256-212798257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184981908	chr2:212798304-212798305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190228478	chr2:212798369-212798370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114971447	chr2:212798398-212798399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62184547	chr2:212798420-212798421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142306388	chr2:212798425-212798426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181878986	chr2:212798432-212798433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569550788	chr2:212798457-212798458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185602846	chr2:212798460-212798461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370710552	chr2:212798473-212798474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151282411	chr2:212798479-212798480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572446973	chr2:212798483-212798484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115422119	chr2:212798527-212798528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534148789	chr2:212798559-212798560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553812555	chr2:212798577-212798578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576957607	chr2:212798591-212798592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116232247	chr2:212798614-212798615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73077380	chr2:212798637-212798638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527406466	chr2:212798676-212798677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34791485	chr2:212798677-212798678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145661551	chr2:212798722-212798723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574607073	chr2:212798761-212798762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542070224	chr2:212798780-212798781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545549007	chr2:212798781-212798782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212791600-212800200	Weak transcription	Aorta	Aorta
2	chr2:212796200-212800000	Weak transcription	Fetal Thymus	thymus
3	chr2:212796400-212804800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:212796800-212799400	Weak transcription	Dnd41	blood
5	chr2:212799400-212801000	Enhancers	Dnd41	blood
6	chr2:212800000-212800400	Enhancers	Fetal Thymus	thymus
7	chr2:212800200-212800400	ZNF genes & repeats	Aorta	Aorta
8	chr2:212800400-212800800	Weak transcription	Aorta	Aorta
9	chr2:212801000-212802200	Weak transcription	Dnd41	blood

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