Variant report

Variant	esv3380722
Chromosome Location	chr2:209241407-209244005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564814862	chr2:209241428-209241429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs56834217	chr2:209241461-209241462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377114481	chr2:209241471-209241472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576946452	chr2:209241483-209241484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148612620	chr2:209241496-209241497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142059980	chr2:209241507-209241508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532245323	chr2:209241592-209241593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533081308	chr2:209241606-209241607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550176295	chr2:209241649-209241650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150756307	chr2:209241742-209241743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184513022	chr2:209241743-209241744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541987169	chr2:209241751-209241752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561666568	chr2:209241762-209241763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568719290	chr2:209241782-209241783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527314556	chr2:209241790-209241791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548097059	chr2:209241828-209241829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571141729	chr2:209241841-209241842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533334506	chr2:209241850-209241851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13021081	chr2:209241861-209241862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570011540	chr2:209241898-209241899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10181047	chr2:209241939-209241940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9712104	chr2:209241968-209241969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555487364	chr2:209241995-209241996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565715239	chr2:209242015-209242016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534730023	chr2:209242031-209242032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189226257	chr2:209242038-209242039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377408400	chr2:209242047-209242048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4589687	chr2:209242070-209242071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545641015	chr2:209242091-209242092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556315022	chr2:209242125-209242126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200040469	chr2:209242126-209242127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149551319	chr2:209242133-209242134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7582175	chr2:209242170-209242171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534888719	chr2:209242171-209242172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4268880	chr2:209242184-209242185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537494898	chr2:209242185-209242186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370772372	chr2:209242186-209242187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527247969	chr2:209242191-209242192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4268881	chr2:209242202-209242203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533686581	chr2:209242211-209242212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550245474	chr2:209242225-209242226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7582376	chr2:209242227-209242228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529471713	chr2:209242247-209242248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549050394	chr2:209242252-209242253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565851336	chr2:209242253-209242254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71418683	chr2:209242264-209242265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13400597	chr2:209242284-209242285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551762244	chr2:209242286-209242287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571593894	chr2:209242289-209242290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7582480	chr2:209242337-209242338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209239000-209241600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:209239800-209241600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:209240000-209241600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:209241200-209243200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:209241600-209243000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:209242800-209243400	Weak transcription	Pancreas	Pancrea
7	chr2:209243200-209243800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr2:209243400-209243600	Enhancers	Pancreas	Pancrea
9	chr2:209243600-209243800	Enhancers	Liver	Liver
10	chr2:209243600-209245200	Weak transcription	Pancreas	Pancrea

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