Variant report

Variant	esv3443478
Chromosome Location	chr11:77224221-77226395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77184025..77186684-chr11:77225252..77228105,2	MCF-7	breast:
2	chr11:77221408..77223531-chr11:77224188..77226566,2	MCF-7	breast:
3	chr11:77217053..77219404-chr11:77224185..77226500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268635	chromatin interactions
ENSG00000149269	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 79 )

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	rs555027904	chr11:77224229-77224230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12099425	chr11:77224252-77224253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534291027	chr11:77224261-77224262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557735481	chr11:77224280-77224281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186747629	chr11:77224286-77224287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191455093	chr11:77224347-77224348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148362661	chr11:77224411-77224412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367980507	chr11:77224445-77224446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573859853	chr11:77224455-77224456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542880277	chr11:77224478-77224479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181038449	chr11:77224513-77224514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3018482	chr11:77224518-77224519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547427814	chr11:77224563-77224564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564515922	chr11:77224588-77224589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11237210	chr11:77224606-77224607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370579118	chr11:77224614-77224615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537060607	chr11:77224640-77224641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185158995	chr11:77224670-77224671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147525711	chr11:77224689-77224690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570047132	chr11:77224706-77224707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139173047	chr11:77224716-77224717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35688433	chr11:77224736-77224737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530934978	chr11:77224740-77224741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58233917	chr11:77224742-77224743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201852023	chr11:77224743-77224744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535618051	chr11:77224762-77224763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368416478	chr11:77224781-77224782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115409118	chr11:77224796-77224797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534722667	chr11:77224808-77224809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557606703	chr11:77224823-77224824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577561836	chr11:77224860-77224861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189575924	chr11:77224873-77224874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557279767	chr11:77224874-77224875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114246765	chr11:77224910-77224911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6592724	chr11:77224972-77224973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs182141486	chr11:77225065-77225066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572409466	chr11:77225080-77225081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372305304	chr11:77225090-77225091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187859664	chr11:77225116-77225117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191945546	chr11:77225138-77225139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533342918	chr11:77225142-77225143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549776274	chr11:77225221-77225222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563609217	chr11:77225266-77225267	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs529546495	chr11:77225315-77225316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs376683916	chr11:77225390-77225391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs183813501	chr11:77225396-77225397	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs544783164	chr11:77225414-77225415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs566253251	chr11:77225423-77225424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534952858	chr11:77225435-77225436	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs143390332	chr11:77225462-77225463	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77218600-77224800	Weak transcription	Fetal Intestine Small	intestine
2	chr11:77221200-77225000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:77221600-77226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:77221600-77226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:77222000-77225000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:77222600-77226600	Weak transcription	HMEC	breast
7	chr11:77222800-77224600	Weak transcription	Stomach Mucosa	stomach
8	chr11:77223000-77226400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:77223200-77227000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:77223200-77240600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:77223400-77229000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:77223600-77226200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:77223600-77228800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:77223800-77224400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr11:77224400-77225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:77224400-77228200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:77224600-77224800	Enhancers	Small Intestine	intestine
18	chr11:77224600-77227400	Enhancers	Stomach Mucosa	stomach
19	chr11:77224800-77229000	Enhancers	Fetal Intestine Small	intestine
20	chr11:77225000-77227200	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:77225000-77227200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:77225000-77227800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:77225600-77227400	Enhancers	Fetal Intestine Large	intestine
24	chr11:77225800-77226400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:77226200-77227000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:77226200-77227000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr11:77226200-77227400	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links