Variant report

Variant	esv1812501
Chromosome Location	chr11:107232338-107243427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000152404	chromatin interactions

Extended variants
information (count: 370 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34661012	chr11:107232338-107232339	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561534154	chr11:107232383-107232384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12293064	chr11:107232431-107232432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550154652	chr11:107232459-107232460	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76894292	chr11:107232465-107232466	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs545372084	chr11:107232467-107232468	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539155566	chr11:107232478-107232479	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547550193	chr11:107232510-107232511	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs566194630	chr11:107232514-107232515	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs566678007	chr11:107232551-107232552	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533711063	chr11:107232555-107232556	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182841312	chr11:107232557-107232558	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573552843	chr11:107232558-107232559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372460503	chr11:107232565-107232566	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112270172	chr11:107232567-107232568	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555779126	chr11:107232572-107232573	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs577551900	chr11:107232593-107232594	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11607304	chr11:107232596-107232597	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149343989	chr11:107232599-107232600	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144702831	chr11:107232608-107232609	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112002780	chr11:107232630-107232631	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372292815	chr11:107232635-107232636	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532092998	chr11:107232656-107232657	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143918390	chr11:107232674-107232675	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374800709	chr11:107232675-107232676	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532372677	chr11:107232693-107232694	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs547882410	chr11:107232697-107232698	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187479279	chr11:107232698-107232699	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs533994343	chr11:107232702-107232703	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs530580149	chr11:107232709-107232710	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147392165	chr11:107232719-107232720	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs655448	chr11:107232725-107232726	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142656674	chr11:107232729-107232730	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12280224	chr11:107232730-107232731	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538223323	chr11:107232733-107232734	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191960741	chr11:107232742-107232743	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113595998	chr11:107232743-107232744	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187464241	chr11:107232745-107232746	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs555244873	chr11:107232749-107232750	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576686371	chr11:107232750-107232751	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544147598	chr11:107232761-107232762	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565402388	chr11:107232783-107232784	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112823742	chr11:107232788-107232789	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541019615	chr11:107232789-107232790	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs559695611	chr11:107232805-107232806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192720002	chr11:107232806-107232807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548261351	chr11:107232807-107232808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77758427	chr11:107232838-107232839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184028876	chr11:107232842-107232843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549679771	chr11:107232844-107232845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107180000-107233200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:107183400-107234400	Weak transcription	HSMMtube	muscle
3	chr11:107193800-107237200	Weak transcription	Gastric	stomach
4	chr11:107194600-107235600	Weak transcription	Aorta	Aorta
5	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:107195200-107233000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:107198200-107233200	Weak transcription	Placenta	Placenta
8	chr11:107198200-107240800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:107205600-107234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:107214200-107232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:107215800-107233000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:107215800-107240800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:107219800-107232600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:107219800-107234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:107219800-107256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:107220000-107234000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:107221800-107232600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:107221800-107232800	Weak transcription	Left Ventricle	heart
19	chr11:107221800-107258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:107222000-107240200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:107222600-107232600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:107223000-107253000	Weak transcription	Liver	Liver
23	chr11:107223000-107253600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:107223000-107256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:107223000-107260600	Weak transcription	Brain Anterior Caudate	brain
26	chr11:107223000-107260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:107223200-107234200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:107223200-107234800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:107223800-107234400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:107224000-107258400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:107224400-107233600	Weak transcription	Dnd41	blood
32	chr11:107224600-107249600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:107224600-107253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:107225800-107250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:107225800-107256400	Weak transcription	Adipose Nuclei	Adipose
36	chr11:107227200-107239000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:107228200-107241000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:107229600-107232600	Strong transcription	Primary B cells from cord blood	blood
39	chr11:107229800-107232800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:107230000-107253400	Weak transcription	Lung	lung
41	chr11:107230200-107261400	Weak transcription	Ovary	ovary
42	chr11:107230800-107233600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:107231400-107232400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:107231600-107232400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:107232200-107249600	Weak transcription	Primary T cells from cord blood	blood
46	chr11:107232400-107232800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:107232400-107257800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:107232600-107232800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr11:107232600-107236600	Weak transcription	Primary B cells from cord blood	blood
50	chr11:107239000-107239400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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