Variant report

Variant	nsv1014565
Chromosome Location	chr2:213164466-213194322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1144 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1144 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10170838	chr2:213164466-213164467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529241069	chr2:213164485-213164486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190383406	chr2:213164493-213164494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10170924	chr2:213164561-213164562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529484518	chr2:213164589-213164590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10173511	chr2:213164590-213164591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78028329	chr2:213164735-213164736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183538536	chr2:213164759-213164760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551405975	chr2:213164787-213164788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17418814	chr2:213164792-213164793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs144770178	chr2:213164793-213164794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1857796	chr2:213164837-213164838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1857795	chr2:213164907-213164908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536094302	chr2:213164916-213164917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188468713	chr2:213164994-213164995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148432852	chr2:213165006-213165007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374522513	chr2:213165013-213165014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535533113	chr2:213165016-213165017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545116447	chr2:213165056-213165057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537256303	chr2:213165071-213165072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73068251	chr2:213165073-213165074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368036563	chr2:213165098-213165099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12466513	chr2:213165136-213165137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73986925	chr2:213165146-213165147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12466568	chr2:213165148-213165149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs17346933	chr2:213165193-213165194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs539449144	chr2:213165196-213165197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534407957	chr2:213168669-213168670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554385626	chr2:213168697-213168698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571005643	chr2:213168721-213168722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530249102	chr2:213168762-213168763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7588550	chr2:213168768-213168769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
33	rs16848289	chr2:213168797-213168798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368673646	chr2:213168844-213168845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566829747	chr2:213168877-213168878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34231570	chr2:213168904-213168905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538997075	chr2:213168921-213168922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140379192	chr2:213168966-213168967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571994697	chr2:213168988-213168989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557459909	chr2:213168997-213168998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59043697	chr2:213169008-213169009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78131946	chr2:213169028-213169029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543159828	chr2:213169106-213169107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144226965	chr2:213169112-213169113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528902982	chr2:213169143-213169144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112040087	chr2:213169158-213169159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562401795	chr2:213169176-213169177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7562228	chr2:213169190-213169191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs548050682	chr2:213169195-213169196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112297883	chr2:213169201-213169202	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213164200-213164800	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:213164600-213165000	Enhancers	Brain Anterior Caudate	brain
3	chr2:213164800-213165200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:213168600-213168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:213171000-213172000	Enhancers	Adipose Nuclei	Adipose
7	chr2:213171000-213172400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:213175200-213175400	Enhancers	Fetal Heart	heart
9	chr2:213175400-213180200	Weak transcription	Fetal Heart	heart
10	chr2:213176400-213177000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:213180200-213183200	Enhancers	Fetal Heart	heart
12	chr2:213180800-213181200	Enhancers	Brain Substantia Nigra	brain
13	chr2:213180800-213181400	Enhancers	Aorta	Aorta
14	chr2:213181000-213181200	Enhancers	Psoas Muscle	Psoas
15	chr2:213181000-213181400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:213181000-213181400	Enhancers	Pancreas	Pancrea
17	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
18	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
19	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
20	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
21	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
22	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
23	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
24	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
25	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:213192000-213192200	Enhancers	Fetal Lung	lung
27	chr2:213192000-213192200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:213192000-213192400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:213192000-213192400	Enhancers	A549	lung
30	chr2:213192000-213193000	Enhancers	Fetal Intestine Large	intestine
31	chr2:213192000-213193000	Enhancers	HepG2	liver
32	chr2:213192200-213193000	Weak transcription	Fetal Lung	lung
33	chr2:213192200-213193000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:213192600-213193800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:213192800-213193200	Enhancers	Fetal Intestine Small	intestine
36	chr2:213192800-213193200	Enhancers	Fetal Stomach	stomach
37	chr2:213193000-213195000	Enhancers	Fetal Lung	lung
38	chr2:213193800-213194600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:213194000-213194600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:213194000-213194800	Enhancers	Brain Anterior Caudate	brain
41	chr2:213194000-213194800	Enhancers	Brain Hippocampus Middle	brain
42	chr2:213194000-213194800	Enhancers	Brain Substantia Nigra	brain
43	chr2:213194200-213195800	Enhancers	Fetal Heart	heart

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