Variant report

Variant	nsv962097
Chromosome Location	chr2:211257839-211263965
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	chr2:211113028..211114042-chr2:211263878..211264898,6	MCF-7	breast:
2	chr2:211227904..211228774-chr2:211263806..211264757,2	MCF-7	breast:

Extended variants
information (count: 222 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557024026	chr2:211257867-211257868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144241914	chr2:211257868-211257869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148725977	chr2:211257892-211257893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544167689	chr2:211257893-211257894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556102568	chr2:211257894-211257895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3911558	chr2:211257950-211257951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538983215	chr2:211257956-211257957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3911559	chr2:211257960-211257961	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs189322498	chr2:211257965-211257966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142445531	chr2:211257983-211257984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568215226	chr2:211258001-211258002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371639741	chr2:211258011-211258012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116138887	chr2:211258084-211258085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3851937	chr2:211258110-211258111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs540431753	chr2:211258121-211258122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4102441	chr2:211258181-211258182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149756037	chr2:211258199-211258200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375182595	chr2:211258200-211258201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200706693	chr2:211258206-211258207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532127105	chr2:211258207-211258208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552123141	chr2:211258244-211258245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4102442	chr2:211258311-211258312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs531622824	chr2:211258313-211258314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1458281	chr2:211258344-211258345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs58384138	chr2:211258451-211258452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533926667	chr2:211258462-211258463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547622607	chr2:211258574-211258575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180868682	chr2:211258576-211258577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187375969	chr2:211258622-211258623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538778454	chr2:211258635-211258636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189301455	chr2:211258651-211258652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575582335	chr2:211258674-211258675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538138224	chr2:211258707-211258708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369863720	chr2:211258723-211258724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146407204	chr2:211258729-211258730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181605010	chr2:211258752-211258753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540394493	chr2:211258788-211258789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528239965	chr2:211258793-211258794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185980072	chr2:211258808-211258809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115424330	chr2:211258834-211258835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12473150	chr2:211258845-211258846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190304646	chr2:211258859-211258860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74738898	chr2:211258883-211258884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76379694	chr2:211258916-211258917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369320587	chr2:211258958-211258959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561920749	chr2:211258959-211258960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139657099	chr2:211258974-211258975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144403245	chr2:211259038-211259039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570581201	chr2:211259044-211259045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10932331	chr2:211259045-211259046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:56)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211254800-211258000	Enhancers	Fetal Muscle Leg	muscle
2	chr2:211256000-211258200	Enhancers	HSMMtube	muscle
3	chr2:211257400-211258000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:211257400-211263200	Weak transcription	Psoas Muscle	Psoas
5	chr2:211257600-211262800	Weak transcription	Fetal Heart	heart
6	chr2:211257800-211258000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:211257800-211258400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:211258000-211259000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:211258000-211263200	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:211258200-211262800	Weak transcription	HSMMtube	muscle
11	chr2:211258400-211258600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:211258600-211259000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:211259000-211260000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:211259000-211263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:211259400-211259800	Enhancers	Placenta	Placenta
16	chr2:211260000-211260400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:211260400-211260600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:211260600-211263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:211262800-211263600	Enhancers	HSMMtube	muscle
20	chr2:211262800-211264800	Enhancers	Fetal Heart	heart
21	chr2:211263000-211263600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:211263200-211263600	Enhancers	Fetal Muscle Leg	muscle
23	chr2:211263200-211263600	Enhancers	Psoas Muscle	Psoas
24	chr2:211263200-211263600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:211263600-211264600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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