Variant report

Variant	esv3399768
Chromosome Location	chr11:108456942-108457940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108456301..108459825-chr11:108462869..108466112,5	MCF-7	breast:
2	chr11:108369021..108370839-chr11:108457580..108459555,2	MCF-7	breast:
3	chr11:108455543..108459356-chr11:108462762..108467202,5	K562	blood:
4	chr11:108457153..108459438-chr11:108461120..108463498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110723	chromatin interactions
ENSG00000178202	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559121778	chr11:108456988-108456989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191319339	chr11:108457034-108457035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572247409	chr11:108457055-108457056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561366101	chr11:108457061-108457062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531932983	chr11:108457152-108457153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550062908	chr11:108457155-108457156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs60896903	chr11:108457197-108457198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551852369	chr11:108457232-108457233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571724069	chr11:108457238-108457239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188563655	chr11:108457241-108457242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190997968	chr11:108457301-108457302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543417352	chr11:108457325-108457326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61913930	chr11:108457342-108457343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61913931	chr11:108457345-108457346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566757406	chr11:108457378-108457379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539101450	chr11:108457385-108457386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79212460	chr11:108457387-108457388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191295044	chr11:108457453-108457454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34605660	chr11:108457478-108457479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566264835	chr11:108457502-108457503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs80056282	chr11:108457538-108457539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528635104	chr11:108457543-108457544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573807250	chr11:108457564-108457565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113187846	chr11:108457629-108457630	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556047818	chr11:108457635-108457636	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577338404	chr11:108457652-108457653	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs55732976	chr11:108457675-108457676	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs543444563	chr11:108457707-108457708	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368836751	chr11:108457732-108457733	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559752059	chr11:108457742-108457743	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs537086502	chr11:108457790-108457791	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs34403786	chr11:108457823-108457824	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs141850298	chr11:108457853-108457854	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs72048453	chr11:108457855-108457856	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs2846409	chr11:108457857-108457858	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
36	rs531873323	chr11:108457888-108457889	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs118104209	chr11:108457891-108457892	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs565310659	chr11:108457900-108457901	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108434600-108462400	Weak transcription	Gastric	stomach
2	chr11:108443800-108459600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:108443800-108459800	Weak transcription	Placenta	Placenta
4	chr11:108443800-108461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:108444400-108457600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:108447800-108457600	Weak transcription	Stomach Mucosa	stomach
7	chr11:108453600-108462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:108454000-108457600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:108456200-108457600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:108456200-108457600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:108456200-108457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:108456200-108458400	Enhancers	GM12878-XiMat	blood
13	chr11:108456400-108457600	Weak transcription	NHEK	skin
14	chr11:108456400-108459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:108456400-108459600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:108456400-108462800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:108456800-108457000	Enhancers	Pancreas	Pancrea
18	chr11:108457600-108457800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:108457600-108457800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:108457600-108457800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:108457600-108457800	Enhancers	A549	lung
22	chr11:108457600-108458000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:108457600-108458000	Enhancers	K562	blood
24	chr11:108457600-108458200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:108457600-108458200	Enhancers	Colonic Mucosa	Colon
26	chr11:108457600-108458200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:108457600-108458200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:108457600-108458200	Enhancers	Stomach Mucosa	stomach
29	chr11:108457600-108458200	Strong transcription	NHEK	skin
30	chr11:108457800-108458000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:108457800-108458200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:108457800-108462800	Weak transcription	H9 Cell Line	embryonic stem cell

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