Variant report

Variant	esv18472
Chromosome Location	chr11:107238660-107243470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107240491..107241393-chr16:2244600..2245300,2	MCF-7	breast:
2	chr11:107241951..107244732-chr11:107327122..107328857,2	K562	blood:
3	chr11:107237489..107239255-chr11:107241546..107243344,2	K562	blood:
4	chr11:107237489..107239255-chr11:107241546..107243344,2	K562	blood:

Variant related genes	Relation type
ENSG00000152404	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2432866	chr11:107238710-107238711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570902523	chr11:107238722-107238723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2432865	chr11:107238732-107238733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs181356289	chr11:107238816-107238817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77852882	chr11:107238824-107238825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191914029	chr11:107238825-107238826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199682425	chr11:107238842-107238843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550806366	chr11:107238850-107238851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145543488	chr11:107238851-107238852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67243856	chr11:107238852-107238853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377063001	chr11:107238855-107238856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370090214	chr11:107238863-107238864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528458999	chr11:107238893-107238894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569340962	chr11:107238899-107238900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533712482	chr11:107238900-107238901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149504554	chr11:107239027-107239028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566878503	chr11:107239057-107239058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2508681	chr11:107239106-107239107	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144087320	chr11:107239110-107239111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183650246	chr11:107239128-107239129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538340327	chr11:107239167-107239168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557162018	chr11:107239182-107239183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575332749	chr11:107239204-107239205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551648133	chr11:107239225-107239226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571782478	chr11:107239251-107239252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539751197	chr11:107239254-107239255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570209640	chr11:107239265-107239266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112439949	chr11:107239331-107239332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187465095	chr11:107239368-107239369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536459486	chr11:107239487-107239488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192071231	chr11:107239601-107239602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561341062	chr11:107239607-107239608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573441382	chr11:107239638-107239639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539346	chr11:107239677-107239678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs142226727	chr11:107239687-107239688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11600026	chr11:107239691-107239692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs531270739	chr11:107239715-107239716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146075664	chr11:107239724-107239725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560582705	chr11:107239770-107239771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139118758	chr11:107239801-107239802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182186835	chr11:107239806-107239807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567656221	chr11:107239848-107239849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186965922	chr11:107239853-107239854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549987152	chr11:107239877-107239878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191741182	chr11:107239918-107239919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571075465	chr11:107239997-107239998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144006199	chr11:107240005-107240006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12283676	chr11:107240049-107240050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182703462	chr11:107240068-107240069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535186791	chr11:107240171-107240172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Cancer	20164919	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:107198200-107240800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:107215800-107240800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:107219800-107256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:107221800-107258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:107222000-107240200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:107223000-107253000	Weak transcription	Liver	Liver
8	chr11:107223000-107253600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:107223000-107256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:107223000-107260600	Weak transcription	Brain Anterior Caudate	brain
11	chr11:107223000-107260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:107224000-107258400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:107224600-107249600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:107224600-107253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:107225800-107250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:107225800-107256400	Weak transcription	Adipose Nuclei	Adipose
17	chr11:107227200-107239000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:107228200-107241000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:107230000-107253400	Weak transcription	Lung	lung
20	chr11:107230200-107261400	Weak transcription	Ovary	ovary
21	chr11:107232200-107249600	Weak transcription	Primary T cells from cord blood	blood
22	chr11:107232400-107257800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:107239000-107239400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:107239400-107240800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr11:107239400-107253400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:107240200-107240400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:107240400-107240800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:107240600-107241200	Enhancers	HepG2	liver
29	chr11:107240600-107261800	Weak transcription	Fetal Lung	lung
30	chr11:107240800-107241000	Enhancers	GM12878-XiMat	blood
31	chr11:107240800-107241200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:107240800-107241600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:107240800-107241600	Enhancers	HSMMtube	muscle
34	chr11:107240800-107241800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:107241000-107241200	Flanking Active TSS	GM12878-XiMat	blood
36	chr11:107241000-107241400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:107241000-107241600	Enhancers	NHEK	skin
38	chr11:107241000-107241800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:107241000-107253000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:107241200-107241400	Active TSS	GM12878-XiMat	blood
41	chr11:107241200-107241600	Enhancers	A549	lung
42	chr11:107241200-107241600	Enhancers	HUVEC	blood vessel
43	chr11:107241200-107241600	Enhancers	NH-A	brain
44	chr11:107241400-107241600	Enhancers	Fetal Kidney	kidney
45	chr11:107241600-107243000	Weak transcription	NHEK	skin
46	chr11:107241600-107261200	Weak transcription	Fetal Kidney	kidney
47	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
48	chr11:107241800-107246400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:107243000-107243200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:107243000-107243200	Enhancers	K562	blood

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