Variant report

Variant	esv3382935
Chromosome Location	chr11:63196776-63203674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 413 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34823960	chr11:63196806-63196807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147346476	chr11:63196814-63196815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553418587	chr11:63196826-63196827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567141490	chr11:63196834-63196835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535742278	chr11:63196840-63196841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556020603	chr11:63196845-63196846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201015947	chr11:63196865-63196866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376184439	chr11:63196913-63196914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544757046	chr11:63196919-63196920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558278541	chr11:63196960-63196961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577979337	chr11:63196990-63196991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540603289	chr11:63197011-63197012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560252797	chr11:63197022-63197023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554744005	chr11:63197037-63197038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541711449	chr11:63197045-63197046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561552874	chr11:63197070-63197071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530611316	chr11:63197078-63197079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550309071	chr11:63197082-63197083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574549739	chr11:63197092-63197093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80114830	chr11:63197118-63197119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532823721	chr11:63197135-63197136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200864547	chr11:63197161-63197162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35095188	chr11:63197163-63197164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397963964	chr11:63197165-63197166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184578673	chr11:63197176-63197177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536994	chr11:63197205-63197206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560782756	chr11:63197221-63197222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556057333	chr11:63197237-63197238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569516325	chr11:63197253-63197254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188242755	chr11:63197254-63197255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537227	chr11:63197290-63197291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs180763795	chr11:63197293-63197294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185617407	chr11:63197332-63197333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554139544	chr11:63197335-63197336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573910147	chr11:63197351-63197352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189544113	chr11:63197352-63197353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149708022	chr11:63197364-63197365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561646309	chr11:63197397-63197398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530646531	chr11:63197401-63197402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182191584	chr11:63197405-63197406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146828021	chr11:63197423-63197424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531511956	chr11:63197447-63197448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533072130	chr11:63197453-63197454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186774762	chr11:63197461-63197462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191660039	chr11:63197472-63197473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560011	chr11:63197476-63197477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183935187	chr11:63197482-63197483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569552994	chr11:63197502-63197503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11821194	chr11:63197525-63197526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372864007	chr11:63197541-63197542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63195800-63198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:63195800-63198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:63195800-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:63195800-63198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:63198000-63198200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:63198000-63198400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:63198000-63198800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:63198200-63198400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr11:63198200-63198400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:63198400-63203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:63202400-63202600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr11:63202600-63203600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:63202800-63203600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:63203000-63203600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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