Variant report

Variant	esv3353403
Chromosome Location	chr2:209060482-209062480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209058168..209060792-chr2:209061919..209063895,2	K562	blood:
2	chr2:209060491..209062065-chr2:209066501..209069096,2	K562	blood:
3	chr2:209058168..209060792-chr2:209061919..209063895,2	K562	blood:
4	chr2:209058318..209061036-chr2:209107934..209110316,2	MCF-7	breast:
5	chr2:209059939..209061469-chr2:209069888..209071988,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371304901	chr2:209060525-209060526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10932250	chr2:209060563-209060564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187412653	chr2:209060570-209060571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144843526	chr2:209060640-209060641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190486166	chr2:209060643-209060644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563918582	chr2:209060663-209060664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529458652	chr2:209060709-209060710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183101719	chr2:209060724-209060725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559990238	chr2:209060771-209060772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148573072	chr2:209060783-209060784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528759156	chr2:209060787-209060788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551818849	chr2:209060792-209060793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539659636	chr2:209060812-209060813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186195047	chr2:209060818-209060819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553502831	chr2:209060863-209060864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111754157	chr2:209060919-209060920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142537279	chr2:209060920-209060921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564989494	chr2:209060959-209060960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545384190	chr2:209060999-209061000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150929558	chr2:209061011-209061012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555668936	chr2:209061060-209061061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559683342	chr2:209061074-209061075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13432776	chr2:209061140-209061141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112479704	chr2:209061169-209061170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199550401	chr2:209061171-209061172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113810637	chr2:209061443-209061444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534577624	chr2:209061473-209061474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376999157	chr2:209061477-209061478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35375681	chr2:209061519-209061520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183420590	chr2:209061604-209061605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577179526	chr2:209061728-209061729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187582676	chr2:209061769-209061770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200316600	chr2:209061869-209061870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35403589	chr2:209061870-209061871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376389667	chr2:209061871-209061872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144596268	chr2:209061872-209061873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574208568	chr2:209061917-209061918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1374210	chr2:209061958-209061959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559956755	chr2:209061993-209061994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528796129	chr2:209062005-209062006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547377437	chr2:209062024-209062025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545674967	chr2:209062068-209062069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567222532	chr2:209062069-209062070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573335318	chr2:209062093-209062094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35560548	chr2:209062094-209062095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530807721	chr2:209062105-209062106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551081510	chr2:209062115-209062116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55839325	chr2:209062140-209062141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs142104418	chr2:209062197-209062198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114007070	chr2:209062227-209062228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
Glioblastoma	21080181	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
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209040000-209064000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:209055000-209061000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:209055800-209064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:209058400-209063200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:209058800-209060800	Enhancers	Osteobl	bone
6	chr2:209059000-209061000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:209059400-209061000	Enhancers	NHDF-Ad	bronchial
8	chr2:209059800-209061000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:209060000-209061800	Weak transcription	Ovary	ovary
10	chr2:209060600-209060800	Enhancers	Fetal Stomach	stomach
11	chr2:209061000-209062400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:209061000-209062400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:209062400-209062600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:209062400-209063000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:209062400-209063200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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