Variant report

Variant	esv2761687
Chromosome Location	chr11:84206126-84239486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84223348..84225534-chr11:84229633..84232278,2	MCF-7	breast:
2	chr11:84223348..84225534-chr11:84229633..84232278,2	MCF-7	breast:
3	chr11:84101210..84102180-chr11:84235286..84236202,6	MCF-7	breast:
4	chr11:84200515..84202625-chr11:84205406..84207106,2	K562	blood:
5	chr11:84108848..84109482-chr11:84236612..84237134,2	MCF-7	breast:
6	chr11:83547750..83548465-chr11:84235328..84235906,2	MCF-7	breast:
7	chr11:84108744..84109714-chr11:84235378..84236188,5	MCF-7	breast:
8	chr11:83547575..83548480-chr11:84235374..84236007,3	MCF-7	breast:
9	chr11:84108756..84109961-chr11:84235215..84236409,11	MCF-7	breast:
10	chr11:84095332..84096338-chr11:84235259..84236211,4	MCF-7	breast:

No data

Extended variants
information (count: 641 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:641 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183358735	chr11:84206127-84206128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367805883	chr11:84206132-84206133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188771075	chr11:84206150-84206151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375632849	chr11:84206161-84206162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368112427	chr11:84206180-84206181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150205978	chr11:84206186-84206187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560911289	chr11:84206250-84206251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529430229	chr11:84206300-84206301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550795450	chr11:84206302-84206303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569290057	chr11:84206308-84206309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138710299	chr11:84206380-84206381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551330227	chr11:84206413-84206414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566842165	chr11:84206436-84206437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552290390	chr11:84206513-84206514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192700428	chr11:84206519-84206520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567747209	chr11:84206535-84206536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75387248	chr11:84206607-84206608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34974806	chr11:84206666-84206667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182680005	chr11:84206695-84206696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142953106	chr11:84206738-84206739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545037361	chr11:84206749-84206750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562538231	chr11:84206771-84206772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74971023	chr11:84206795-84206796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572402941	chr11:84206820-84206821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34142835	chr11:84206821-84206822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs891575	chr11:84206867-84206868	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs561182600	chr11:84206906-84206907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531407694	chr11:84206912-84206913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543561266	chr11:84206913-84206914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562655853	chr11:84206916-84206917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533222021	chr11:84206922-84206923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551393258	chr11:84206955-84206956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374628773	chr11:84206959-84206960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186505051	chr11:84206968-84206969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147114565	chr11:84206971-84206972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549410728	chr11:84206992-84206993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374099518	chr11:84207082-84207083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568279245	chr11:84207103-84207104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567903773	chr11:84207106-84207107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367772880	chr11:84207166-84207167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191297878	chr11:84207203-84207204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138521680	chr11:84207228-84207229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144008506	chr11:84207307-84207308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538721632	chr11:84207354-84207355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184606582	chr11:84207363-84207364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190456679	chr11:84207424-84207425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193290399	chr11:84207452-84207453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554574170	chr11:84207458-84207459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185093798	chr11:84207472-84207473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543271998	chr11:84207488-84207489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Autism	19246517	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84204800-84208600	Weak transcription	Osteobl	bone
2	chr11:84205800-84207200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:84206200-84206600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr11:84206600-84208400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:84207200-84210800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:84208400-84208800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:84208400-84209200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr11:84208600-84210200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:84208600-84210200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:84208600-84210200	Enhancers	Osteobl	bone
11	chr11:84208800-84209000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:84208800-84209800	Enhancers	NH-A	brain
13	chr11:84208800-84210000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:84209000-84209200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:84209000-84209400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:84209000-84209400	Enhancers	Fetal Heart	heart
17	chr11:84209000-84210200	Enhancers	Right Atrium	heart
18	chr11:84209200-84209600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:84209400-84210400	Weak transcription	Fetal Heart	heart
20	chr11:84209600-84210200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:84210200-84210600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:84210400-84211600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:84210400-84211600	Enhancers	Fetal Heart	heart
24	chr11:84210600-84211000	Enhancers	Fetal Brain Male	brain
25	chr11:84210800-84211000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr11:84220200-84221800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:84220400-84220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:84220400-84221600	Enhancers	Adipose Nuclei	Adipose
29	chr11:84223200-84223400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:84225200-84225600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr11:84225200-84225600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:84225200-84225600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:84225200-84226000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:84225400-84225800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:84225400-84225800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:84225400-84225800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:84229600-84229800	Enhancers	Ovary	ovary
38	chr11:84229600-84230200	Enhancers	Brain Anterior Caudate	brain
39	chr11:84229600-84230200	Enhancers	Brain Hippocampus Middle	brain
40	chr11:84229600-84230200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:84229600-84230800	Enhancers	Fetal Stomach	stomach
42	chr11:84229800-84246800	Weak transcription	Ovary	ovary
43	chr11:84230000-84230800	Enhancers	Brain Cingulate Gyrus	brain
44	chr11:84230200-84235200	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:84230200-84235400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:84230800-84235400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:84232800-84237200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:84233200-84233800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:84233200-84234400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:84233400-84234000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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