Variant report

Variant	esv1833855
Chromosome Location	chr2:206125313-206129806
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	chr2:206120308..206123073-chr2:206124121..206126341,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11892551	chr2:206125313-206125314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183618410	chr2:206125336-206125337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59136861	chr2:206125351-206125352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377311132	chr2:206125360-206125361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35069991	chr2:206125410-206125411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573854199	chr2:206125418-206125419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541361887	chr2:206125542-206125543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540449935	chr2:206125588-206125589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560530886	chr2:206125590-206125591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567076593	chr2:206125591-206125592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10574504	chr2:206125609-206125610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs60475859	chr2:206125649-206125650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111890961	chr2:206125672-206125673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545198347	chr2:206125679-206125680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73068915	chr2:206125693-206125694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576526895	chr2:206125696-206125697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530582968	chr2:206125732-206125733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548706704	chr2:206125786-206125787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567302858	chr2:206125807-206125808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34247774	chr2:206125853-206125854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537474930	chr2:206125876-206125877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561942515	chr2:206125971-206125972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528066741	chr2:206126025-206126026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188770157	chr2:206126116-206126117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566012498	chr2:206126129-206126130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369697805	chr2:206126177-206126178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113762332	chr2:206126194-206126195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79644193	chr2:206126262-206126263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557896404	chr2:206126343-206126344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562783942	chr2:206126385-206126386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77528995	chr2:206126391-206126392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537504555	chr2:206126402-206126403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555574615	chr2:206126406-206126407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574017500	chr2:206126442-206126443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181379970	chr2:206126515-206126516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370885602	chr2:206126535-206126536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146370238	chr2:206126556-206126557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113363664	chr2:206126599-206126600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577975792	chr2:206126670-206126671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372720771	chr2:206126671-206126672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377314909	chr2:206126683-206126684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1921794	chr2:206126789-206126790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563428217	chr2:206126795-206126796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575508236	chr2:206126889-206126890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72940346	chr2:206126919-206126920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370098183	chr2:206127032-206127033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560805727	chr2:206127037-206127038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528117532	chr2:206127093-206127094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72940348	chr2:206127111-206127112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74903217	chr2:206127160-206127161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	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
Hodgkin''s lymphoma	17606441	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
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206108400-206145200	Weak transcription	HSMM	muscle
3	chr2:206113400-206139800	Weak transcription	Pancreas	Pancrea
4	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
5	chr2:206122000-206126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:206124200-206126800	Enhancers	Colon Smooth Muscle	Colon
7	chr2:206124400-206126000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:206125000-206126600	Weak transcription	Osteobl	bone
9	chr2:206126000-206127000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:206126000-206127400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:206126400-206126800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:206126400-206127600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:206126600-206127600	Enhancers	Osteobl	bone
14	chr2:206127000-206127400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:206127200-206127400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:206127400-206128000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:206127800-206128200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:206128000-206128200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:206128000-206128200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:206128200-206130600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:206128200-206131000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:206128400-206130000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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