Variant report

Variant	nsv460076
Chromosome Location	chr2:213120523-213165247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212824327..212826321-chr2:213119385..213121248,2	MCF-7	breast:
2	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:
3	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
4	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
5	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
6	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178568	chromatin interactions

Extended variants
information (count: 1728 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1728 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16848108	chr2:213120523-213120524	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542944033	chr2:213120526-213120527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113329649	chr2:213120530-213120531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537447502	chr2:213120535-213120536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557000789	chr2:213120592-213120593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573860815	chr2:213120597-213120598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149074975	chr2:213120630-213120631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143140200	chr2:213120639-213120640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572654714	chr2:213120652-213120653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544712444	chr2:213120659-213120660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374307755	chr2:213120718-213120719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201546552	chr2:213120721-213120722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200449047	chr2:213120722-213120723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2371564	chr2:213120724-213120725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552024277	chr2:213120726-213120727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs71054189	chr2:213120736-213120737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200085378	chr2:213120741-213120742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200857914	chr2:213120742-213120743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551987819	chr2:213120743-213120744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560687218	chr2:213120744-213120745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565783700	chr2:213120745-213120746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373272998	chr2:213120751-213120752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529613703	chr2:213120857-213120858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116698193	chr2:213120901-213120902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192360683	chr2:213120943-213120944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528689704	chr2:213120955-213120956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551949854	chr2:213120960-213120961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559270094	chr2:213121081-213121082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531651928	chr2:213121082-213121083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148106262	chr2:213121087-213121088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550965007	chr2:213121165-213121166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369004477	chr2:213121185-213121186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141907266	chr2:213121190-213121191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577745741	chr2:213121193-213121194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144971602	chr2:213121222-213121223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552806118	chr2:213121235-213121236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111418248	chr2:213121283-213121284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538425063	chr2:213121287-213121288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374521960	chr2:213121289-213121290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558266859	chr2:213121361-213121362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545189803	chr2:213121380-213121381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185727077	chr2:213121389-213121390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190573406	chr2:213121402-213121403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554554720	chr2:213121418-213121419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574314393	chr2:213121419-213121420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79726908	chr2:213121433-213121434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560086801	chr2:213121472-213121473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528722414	chr2:213121483-213121484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545601192	chr2:213121525-213121526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565300111	chr2:213121533-213121534	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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213107800-213134000	Weak transcription	Aorta	Aorta
2	chr2:213114600-213130400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:213115400-213121800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:213115400-213134000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:213119400-213122400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:213121800-213122800	Enhancers	Brain Substantia Nigra	brain
7	chr2:213122400-213122600	Enhancers	Brain Angular Gyrus	brain
8	chr2:213122400-213122800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:213122800-213131200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:213127400-213127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:213127600-213128000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:213128000-213130800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:213128600-213128800	Enhancers	Brain Anterior Caudate	brain
14	chr2:213128600-213129400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:213128800-213129200	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr2:213128800-213129200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:213128800-213129800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:213128800-213130800	Enhancers	Brain Germinal Matrix	brain
19	chr2:213129000-213129200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:213129000-213129800	Enhancers	Psoas Muscle	Psoas
21	chr2:213129200-213141000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:213129400-213130800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:213129400-213131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:213129600-213130000	Weak transcription	Brain Angular Gyrus	brain
25	chr2:213129600-213133000	Enhancers	Fetal Heart	heart
26	chr2:213129800-213135400	Weak transcription	Psoas Muscle	Psoas
27	chr2:213130400-213130800	Active TSS	Brain Hippocampus Middle	brain
28	chr2:213130800-213131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:213131000-213131200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:213131000-213131200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:213131000-213131600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:213131200-213132000	Enhancers	Brain Substantia Nigra	brain
33	chr2:213131200-213133400	Weak transcription	Brain Angular Gyrus	brain
34	chr2:213131600-213133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:213132000-213134000	Weak transcription	Brain Substantia Nigra	brain
36	chr2:213133000-213135400	Weak transcription	Fetal Heart	heart
37	chr2:213133400-213134200	Enhancers	Brain Angular Gyrus	brain
38	chr2:213133600-213133800	Enhancers	Brain Hippocampus Middle	brain
39	chr2:213133600-213134400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:213133600-213134600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:213134000-213134200	Enhancers	Aorta	Aorta
42	chr2:213134000-213134200	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:213134000-213134400	Enhancers	Brain Substantia Nigra	brain
44	chr2:213134200-213145200	Weak transcription	Aorta	Aorta
45	chr2:213134400-213147400	Weak transcription	Brain Substantia Nigra	brain
46	chr2:213135400-213136000	Enhancers	Psoas Muscle	Psoas
47	chr2:213135400-213139200	Enhancers	Fetal Heart	heart
48	chr2:213136000-213136200	Weak transcription	Psoas Muscle	Psoas
49	chr2:213136200-213136600	Enhancers	Psoas Muscle	Psoas
50	chr2:213136400-213137400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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