Variant report

Variant	nsv1002211
Chromosome Location	chr2:213158685-213191813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
2	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
3	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
4	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
5	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:

Extended variants
information (count: 1287 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17346726	chr2:213158685-213158686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140867080	chr2:213158749-213158750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17346733	chr2:213158768-213158769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573567403	chr2:213158784-213158785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17418640	chr2:213158820-213158821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs60532973	chr2:213158822-213158823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72945697	chr2:213158862-213158863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145983148	chr2:213158954-213158955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189714930	chr2:213158959-213158960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530524584	chr2:213158963-213158964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550566264	chr2:213158966-213158967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72945699	chr2:213158969-213158970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17418647	chr2:213159053-213159054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549581013	chr2:213159057-213159058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114913993	chr2:213159064-213159065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58396550	chr2:213159071-213159072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs17418661	chr2:213159176-213159177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181270701	chr2:213159200-213159201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60654384	chr2:213159220-213159221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138783422	chr2:213159361-213159362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573628168	chr2:213159376-213159377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533813099	chr2:213159407-213159408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542556811	chr2:213159477-213159478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72945702	chr2:213159522-213159523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142804844	chr2:213159540-213159541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539827064	chr2:213159630-213159631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545142024	chr2:213159666-213159667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17346754	chr2:213159671-213159672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372720122	chr2:213159694-213159695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185703328	chr2:213159705-213159706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112496321	chr2:213159715-213159716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576476907	chr2:213159720-213159721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147284034	chr2:213159722-213159723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6723978	chr2:213159727-213159728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190457391	chr2:213159739-213159740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10174395	chr2:213159753-213159754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575870704	chr2:213159807-213159808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566320087	chr2:213159812-213159813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528679850	chr2:213159829-213159830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544810700	chr2:213159866-213159867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551920088	chr2:213159873-213159874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76081578	chr2:213159874-213159875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138791048	chr2:213159876-213159877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550610228	chr2:213159887-213159888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183050086	chr2:213159899-213159900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60764990	chr2:213159957-213159958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552996980	chr2:213159985-213159986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187279641	chr2:213159998-213159999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573065165	chr2:213160008-213160009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149358636	chr2:213160026-213160027	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213150200-213161600	Weak transcription	Aorta	Aorta
2	chr2:213153200-213159400	Weak transcription	Pancreas	Pancrea
3	chr2:213159600-213159800	Enhancers	Brain Angular Gyrus	brain
4	chr2:213159600-213159800	Enhancers	Brain Substantia Nigra	brain
5	chr2:213159600-213159800	Enhancers	Pancreas	Pancrea
6	chr2:213159600-213160000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:213159800-213161400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:213160000-213164200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:213161400-213162200	Enhancers	Brain Angular Gyrus	brain
10	chr2:213161600-213161800	Enhancers	Aorta	Aorta
11	chr2:213164200-213164800	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:213164600-213165000	Enhancers	Brain Anterior Caudate	brain
13	chr2:213164800-213165200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:213168600-213168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:213171000-213172000	Enhancers	Adipose Nuclei	Adipose
17	chr2:213171000-213172400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:213175200-213175400	Enhancers	Fetal Heart	heart
19	chr2:213175400-213180200	Weak transcription	Fetal Heart	heart
20	chr2:213176400-213177000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:213180200-213183200	Enhancers	Fetal Heart	heart
22	chr2:213180800-213181200	Enhancers	Brain Substantia Nigra	brain
23	chr2:213180800-213181400	Enhancers	Aorta	Aorta
24	chr2:213181000-213181200	Enhancers	Psoas Muscle	Psoas
25	chr2:213181000-213181400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:213181000-213181400	Enhancers	Pancreas	Pancrea
27	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
28	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
29	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
30	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
31	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
32	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
33	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
34	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
35	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