Variant report

Variant	esv3465553
Chromosome Location	chr11:102471789-102472235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102457732..102459572-chr11:102471796..102473320,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372788937	chr11:102471859-102471860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376281036	chr11:102471861-102471862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370813783	chr11:102471862-102471863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374185185	chr11:102471865-102471866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376983352	chr11:102471868-102471869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112855564	chr11:102471886-102471887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113127041	chr11:102471946-102471947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570673090	chr11:102472024-102472025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539706583	chr11:102472049-102472050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201023678	chr11:102472065-102472066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201878234	chr11:102472067-102472068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113663201	chr11:102472084-102472085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111531024	chr11:102472110-102472111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533816118	chr11:102472129-102472130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147033527	chr11:102472152-102472153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371371865	chr11:102472162-102472163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575708440	chr11:102472209-102472210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11225338	chr11:102472210-102472211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2509018	chr11:102472232-102472233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102466800-102474200	Enhancers	HepG2	liver
2	chr11:102469200-102471800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:102469200-102471800	Enhancers	Stomach Mucosa	stomach
4	chr11:102469200-102475800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:102469200-102476200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:102469400-102471800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:102469400-102473400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:102469800-102474400	Weak transcription	Pancreas	Pancrea
9	chr11:102470000-102472400	Enhancers	HSMMtube	muscle
10	chr11:102470000-102476000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:102470200-102472400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:102470800-102472400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:102470800-102475200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:102470800-102476000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:102471000-102471800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:102471000-102471800	Enhancers	NHEK	skin
17	chr11:102471000-102471800	Enhancers	Osteobl	bone
18	chr11:102471000-102472000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:102471000-102472400	Weak transcription	Brain Anterior Caudate	brain
20	chr11:102471000-102472400	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:102471000-102472600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:102471000-102473600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:102471000-102473800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:102471000-102473800	Weak transcription	GM12878-XiMat	blood
25	chr11:102471000-102474000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:102471000-102474000	Enhancers	HSMM	muscle
27	chr11:102471000-102474200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:102471000-102476200	Enhancers	HMEC	breast
29	chr11:102471200-102471800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:102471200-102471800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:102471200-102471800	Enhancers	Placenta	Placenta
32	chr11:102471200-102472400	Enhancers	A549	lung
33	chr11:102471200-102474000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:102471200-102475000	Enhancers	NH-A	brain
35	chr11:102471600-102471800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:102471600-102473200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:102471600-102473200	Weak transcription	NHDF-Ad	bronchial
38	chr11:102471600-102474000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:102471600-102474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:102471600-102474000	Weak transcription	NHLF	lung
41	chr11:102471600-102475600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:102471800-102473400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:102471800-102473400	Weak transcription	Osteobl	bone
44	chr11:102471800-102473600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:102471800-102473800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:102471800-102473800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:102471800-102473800	Weak transcription	NHEK	skin
48	chr11:102471800-102474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:102471800-102475600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:102471800-102475800	Weak transcription	Placenta	Placenta

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