Variant report

Variant	nsv1003776
Chromosome Location	chr2:213181315-213194322
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: 603 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:603 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16848336	chr2:213181315-213181316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562317603	chr2:213181341-213181342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532752016	chr2:213181347-213181348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187038683	chr2:213181359-213181360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547884618	chr2:213181384-213181385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570839799	chr2:213181397-213181398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76017934	chr2:213181416-213181417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369243406	chr2:213181449-213181450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549759434	chr2:213181451-213181452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372828497	chr2:213181467-213181468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558373842	chr2:213181506-213181507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569654459	chr2:213181529-213181530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543661371	chr2:213181570-213181571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13026634	chr2:213181608-213181609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555323263	chr2:213181619-213181620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565892036	chr2:213181661-213181662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375291824	chr2:213181668-213181669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528751738	chr2:213181690-213181691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534487413	chr2:213181694-213181695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557870410	chr2:213181701-213181702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548576469	chr2:213181705-213181706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373497428	chr2:213181746-213181747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76173485	chr2:213181788-213181789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4533427	chr2:213181824-213181825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573639802	chr2:213181834-213181835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542531204	chr2:213181837-213181838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562210236	chr2:213181904-213181905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568095992	chr2:213181908-213181909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78428807	chr2:213181930-213181931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377225441	chr2:213181992-213181993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572158177	chr2:213181994-213181995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73068266	chr2:213181997-213181998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564647366	chr2:213182010-213182011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533240747	chr2:213182012-213182013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191879020	chr2:213182033-213182034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78525670	chr2:213182049-213182050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571908664	chr2:213182051-213182052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374160381	chr2:213182108-213182109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564345001	chr2:213182184-213182185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558424082	chr2:213182276-213182277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141804871	chr2:213182309-213182310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146242948	chr2:213182363-213182364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551284246	chr2:213182412-213182413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139352408	chr2:213182438-213182439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377647035	chr2:213182461-213182462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10932435	chr2:213182462-213182463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557048928	chr2:213182468-213182469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182407474	chr2:213182488-213182489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113602546	chr2:213182558-213182559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398105285	chr2:213182566-213182567	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:32 , 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	chr2:213180200-213183200	Enhancers	Fetal Heart	heart
3	chr2:213180800-213181400	Enhancers	Aorta	Aorta
4	chr2:213181000-213181400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:213181000-213181400	Enhancers	Pancreas	Pancrea
6	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
7	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
8	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
9	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
10	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
11	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
12	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
13	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
14	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:213192000-213192200	Enhancers	Fetal Lung	lung
16	chr2:213192000-213192200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:213192000-213192400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:213192000-213192400	Enhancers	A549	lung
19	chr2:213192000-213193000	Enhancers	Fetal Intestine Large	intestine
20	chr2:213192000-213193000	Enhancers	HepG2	liver
21	chr2:213192200-213193000	Weak transcription	Fetal Lung	lung
22	chr2:213192200-213193000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:213192600-213193800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:213192800-213193200	Enhancers	Fetal Intestine Small	intestine
25	chr2:213192800-213193200	Enhancers	Fetal Stomach	stomach
26	chr2:213193000-213195000	Enhancers	Fetal Lung	lung
27	chr2:213193800-213194600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:213194000-213194600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:213194000-213194800	Enhancers	Brain Anterior Caudate	brain
30	chr2:213194000-213194800	Enhancers	Brain Hippocampus Middle	brain
31	chr2:213194000-213194800	Enhancers	Brain Substantia Nigra	brain
32	chr2:213194200-213195800	Enhancers	Fetal Heart	heart

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