Variant report

Variant	nsv584422
Chromosome Location	chr2:213214303-213270427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:213213790..213216008-chr2:213223245..213225984,2	MCF-7	breast:
2	chr2:213223218..213224821-chr2:213227410..213229033,2	MCF-7	breast:
3	chr2:213217638..213221383-chr2:213223310..213226579,3	MCF-7	breast:
4	chr2:213217638..213221383-chr2:213223310..213226579,3	MCF-7	breast:
5	chr2:213223218..213224821-chr2:213227410..213229033,2	MCF-7	breast:
6	chr2:213252657..213254943-chr2:213260775..213262754,2	K562	blood:
7	chr2:213213790..213216008-chr2:213223245..213225984,2	MCF-7	breast:
8	chr2:213252657..213254943-chr2:213260775..213262754,2	K562	blood:

No data

Extended variants
information (count: 1808 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1808 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2371573	chr2:213214303-213214304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538928734	chr2:213214329-213214330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148997660	chr2:213214400-213214401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182681372	chr2:213214424-213214425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2135159	chr2:213214465-213214466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73987385	chr2:213214466-213214467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2135160	chr2:213214467-213214468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs36092268	chr2:213214516-213214517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540244855	chr2:213214538-213214539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553718670	chr2:213214595-213214596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576751287	chr2:213214601-213214602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545759721	chr2:213214635-213214636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562735197	chr2:213214636-213214637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531395328	chr2:213214643-213214644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75824963	chr2:213214657-213214658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561766527	chr2:213214677-213214678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574217787	chr2:213214695-213214696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114307726	chr2:213214716-213214717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547431305	chr2:213214789-213214790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576715464	chr2:213214793-213214794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543120896	chr2:213214801-213214802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138510092	chr2:213214805-213214806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115321065	chr2:213214836-213214837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73074246	chr2:213214871-213214872	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199919258	chr2:213214935-213214936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569483253	chr2:213214951-213214952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1910862	chr2:213214953-213214954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538058530	chr2:213214965-213214966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187106099	chr2:213214987-213214988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35287212	chr2:213215008-213215009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568233455	chr2:213215027-213215028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1910863	chr2:213215076-213215077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115746754	chr2:213215123-213215124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79793834	chr2:213215189-213215190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539759547	chr2:213215224-213215225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114148845	chr2:213215244-213215245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114991551	chr2:213215253-213215254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377052659	chr2:213215283-213215284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374059667	chr2:213215308-213215309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542052563	chr2:213215320-213215321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540338518	chr2:213215322-213215323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16848412	chr2:213215340-213215341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572192409	chr2:213215345-213215346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143985285	chr2:213215357-213215358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564111455	chr2:213215370-213215371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201244127	chr2:213215377-213215378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532788173	chr2:213215424-213215425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549703637	chr2:213215502-213215503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78372731	chr2:213215523-213215524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531999745	chr2:213215525-213215526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213205600-213221000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213211200-213216200	Enhancers	Fetal Heart	heart
3	chr2:213213200-213214800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:213213600-213215600	Weak transcription	Aorta	Aorta
5	chr2:213214800-213215000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:213215600-213216200	Enhancers	Aorta	Aorta
7	chr2:213216200-213218400	Weak transcription	Fetal Heart	heart
8	chr2:213216200-213221000	Weak transcription	Aorta	Aorta
9	chr2:213216600-213220600	Weak transcription	Fetal Kidney	kidney
10	chr2:213218400-213221800	Enhancers	Fetal Heart	heart
11	chr2:213218600-213219200	Enhancers	Psoas Muscle	Psoas
12	chr2:213218600-213219600	Enhancers	HepG2	liver
13	chr2:213219000-213221000	Enhancers	Brain Substantia Nigra	brain
14	chr2:213219200-213219400	Enhancers	Brain Angular Gyrus	brain
15	chr2:213219200-213227200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:213219200-213233600	Weak transcription	Psoas Muscle	Psoas
17	chr2:213219600-213220800	Weak transcription	Brain Angular Gyrus	brain
18	chr2:213219600-213222200	Weak transcription	HepG2	liver
19	chr2:213220000-213220200	Enhancers	Brain Anterior Caudate	brain
20	chr2:213220000-213220200	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:213220200-213220800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:213220200-213221000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:213220200-213221000	Enhancers	Brain Hippocampus Middle	brain
24	chr2:213220600-213221200	Enhancers	Fetal Kidney	kidney
25	chr2:213220800-213221000	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:213220800-213221200	Enhancers	Brain Angular Gyrus	brain
27	chr2:213221000-213221200	Enhancers	Aorta	Aorta
28	chr2:213221000-213221600	Enhancers	Brain Anterior Caudate	brain
29	chr2:213221000-213222200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:213221000-213222200	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:213221000-213222200	Weak transcription	Brain Substantia Nigra	brain
32	chr2:213221000-213228600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:213221200-213221400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:213221200-213222200	Weak transcription	Aorta	Aorta
35	chr2:213221200-213222200	Weak transcription	Brain Angular Gyrus	brain
36	chr2:213221200-213223600	Weak transcription	Fetal Kidney	kidney
37	chr2:213221600-213222200	Weak transcription	Brain Anterior Caudate	brain
38	chr2:213221800-213222200	Weak transcription	Fetal Heart	heart
39	chr2:213222200-213222400	Flanking Active TSS	Aorta	Aorta
40	chr2:213222200-213222600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:213222200-213222600	Active TSS	Brain Anterior Caudate	brain
42	chr2:213222200-213222600	Active TSS	Brain Hippocampus Middle	brain
43	chr2:213222200-213222600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr2:213222200-213222800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:213222200-213222800	Active TSS	Brain Angular Gyrus	brain
46	chr2:213222200-213222800	Active TSS	Brain Cingulate Gyrus	brain
47	chr2:213222200-213222800	Active TSS	Brain Substantia Nigra	brain
48	chr2:213222200-213222800	Active TSS	Right Atrium	heart
49	chr2:213222200-213223600	Enhancers	Fetal Heart	heart
50	chr2:213222200-213224600	Enhancers	HepG2	liver

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