Variant report

Variant	esv3414455
Chromosome Location	chr2:210298807-210300755
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	chr2:210299119..210301868-chr2:210304043..210306218,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571439681	chr2:210298823-210298824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180788822	chr2:210298825-210298826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550885203	chr2:210298917-210298918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570041863	chr2:210298946-210298947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535895029	chr2:210298953-210298954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555887496	chr2:210298973-210298974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566136390	chr2:210298980-210298981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186125223	chr2:210298986-210298987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535124295	chr2:210299016-210299017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192291903	chr2:210299029-210299030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200308268	chr2:210299036-210299037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201825132	chr2:210299039-210299040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578138019	chr2:210299161-210299162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540088137	chr2:210299206-210299207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181936275	chr2:210299224-210299225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144944175	chr2:210299234-210299235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573299286	chr2:210299288-210299289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540570004	chr2:210299385-210299386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58596249	chr2:210299538-210299539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375610545	chr2:210299539-210299540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397966694	chr2:210299558-210299559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10548229	chr2:210299559-210299560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200583026	chr2:210299560-210299561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78419985	chr2:210299561-210299562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199899649	chr2:210299563-210299564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59153309	chr2:210299568-210299569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571311408	chr2:210299575-210299576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372955934	chr2:210299587-210299588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58339476	chr2:210299596-210299597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199921912	chr2:210299598-210299599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368135425	chr2:210299601-210299602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372124668	chr2:210299609-210299610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572574324	chr2:210299617-210299618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60440231	chr2:210299618-210299619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200489034	chr2:210299619-210299620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564914747	chr2:210299620-210299621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201920466	chr2:210299621-210299622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200102431	chr2:210299622-210299623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377079366	chr2:210299641-210299642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200254977	chr2:210299642-210299643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551671816	chr2:210299644-210299645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13025538	chr2:210299646-210299647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200057792	chr2:210299657-210299658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28558587	chr2:210299667-210299668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561205688	chr2:210299711-210299712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28610349	chr2:210299785-210299786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572871688	chr2:210299822-210299823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549352661	chr2:210299852-210299853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566103588	chr2:210299885-210299886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57260504	chr2:210299984-210299985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Mantle cell lymphoma	21518781	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210290000-210300200	Weak transcription	Pancreas	Pancrea
2	chr2:210290200-210300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:210293200-210304000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:210293600-210302600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:210296800-210301400	Weak transcription	Fetal Brain Male	brain
6	chr2:210297200-210306200	Weak transcription	Aorta	Aorta
7	chr2:210297200-210306400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:210297400-210300000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:210297400-210303400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:210297400-210307400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:210298000-210299000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:210298200-210300000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:210298200-210306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:210298200-210307200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:210298200-210309200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:210298600-210300000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:210298800-210299000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:210298800-210300200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:210298800-210301000	Weak transcription	Fetal Brain Female	brain
20	chr2:210300000-210300200	Genic enhancers	Brain Germinal Matrix	brain
21	chr2:210300000-210300400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:210300000-210300400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:210300200-210300400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:210300200-210300400	Enhancers	Brain Germinal Matrix	brain
25	chr2:210300200-210300400	Enhancers	Pancreas	Pancrea
26	chr2:210300400-210302400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:210300400-210305400	Weak transcription	Brain Germinal Matrix	brain
28	chr2:210300400-210306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:210300400-210312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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