Variant report

Variant	nsv584378
Chromosome Location	chr2:213178185-213191821
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: 628 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:628 , 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	rs141071369	chr2:213178259-213178260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72947348	chr2:213178276-213178277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556572596	chr2:213178385-213178386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550419839	chr2:213178430-213178431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140464865	chr2:213178507-213178508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376458425	chr2:213178555-213178556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575722832	chr2:213178562-213178563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150397401	chr2:213178574-213178575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13397422	chr2:213178629-213178630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570159743	chr2:213178672-213178673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570229495	chr2:213178726-213178727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561193238	chr2:213178730-213178731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12694270	chr2:213178740-213178741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138341130	chr2:213178751-213178752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186180412	chr2:213178768-213178769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369127432	chr2:213178784-213178785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370860227	chr2:213178806-213178807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532289207	chr2:213178821-213178822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113360824	chr2:213178826-213178827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572706264	chr2:213178829-213178830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568579754	chr2:213178833-213178834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149209849	chr2:213178872-213178873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547762624	chr2:213178879-213178880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555859436	chr2:213178933-213178934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567659548	chr2:213178937-213178938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201396121	chr2:213178957-213178958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541686026	chr2:213178981-213178982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566971964	chr2:213179023-213179024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539186431	chr2:213179025-213179026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558185754	chr2:213179045-213179046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75370751	chr2:213179069-213179070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576734101	chr2:213179074-213179075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192454032	chr2:213179093-213179094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559108517	chr2:213179156-213179157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79779303	chr2:213179162-213179163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13398000	chr2:213179163-213179164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554995701	chr2:213179179-213179180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146782360	chr2:213179196-213179197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72947350	chr2:213179198-213179199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560369228	chr2:213179211-213179212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182445208	chr2:213179233-213179234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187955161	chr2:213179279-213179280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72947351	chr2:213179285-213179286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs115962666	chr2:213179286-213179287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72947353	chr2:213179368-213179369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373881163	chr2:213179380-213179381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547840512	chr2:213179383-213179384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113212837	chr2:213179494-213179495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527251572	chr2:213179501-213179502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376812008	chr2:213179559-213179560	Weak transcription	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:17 , 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	chr2:213175400-213180200	Weak transcription	Fetal Heart	heart
3	chr2:213180200-213183200	Enhancers	Fetal Heart	heart
4	chr2:213180800-213181200	Enhancers	Brain Substantia Nigra	brain
5	chr2:213180800-213181400	Enhancers	Aorta	Aorta
6	chr2:213181000-213181200	Enhancers	Psoas Muscle	Psoas
7	chr2:213181000-213181400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:213181000-213181400	Enhancers	Pancreas	Pancrea
9	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
10	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
11	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
12	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
13	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
14	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
15	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
16	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
17	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links