Variant report

Variant	esv2014075
Chromosome Location	chr11:107640611-107641014
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	chr11:107447313..107447854-chr11:107640968..107641965,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554111926	chr11:107640623-107640624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552969603	chr11:107640668-107640669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139369262	chr11:107640685-107640686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140628948	chr11:107640735-107640736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187882583	chr11:107640753-107640754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191346733	chr11:107640773-107640774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150397983	chr11:107640776-107640777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17107403	chr11:107640811-107640812	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536382658	chr11:107640843-107640844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183149580	chr11:107640883-107640884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374736079	chr11:107640905-107640906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138173729	chr11:107640928-107640929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187343922	chr11:107640935-107640936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192098690	chr11:107641006-107641007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute lymphoblastic leukemia	18458336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107638600-107642000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:107638800-107641800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:107639000-107641200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:107639400-107641800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:107639400-107641800	Enhancers	HSMMtube	muscle
6	chr11:107639600-107642000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:107639800-107641400	Enhancers	NH-A	brain
8	chr11:107639800-107641800	Enhancers	HSMM	muscle
9	chr11:107639800-107641800	Enhancers	NHDF-Ad	bronchial
10	chr11:107640000-107640800	Enhancers	Psoas Muscle	Psoas
11	chr11:107640000-107641400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:107640000-107641400	Enhancers	Osteobl	bone
13	chr11:107640000-107641800	Enhancers	GM12878-XiMat	blood
14	chr11:107640000-107642200	Enhancers	Fetal Brain Female	brain
15	chr11:107640200-107641200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:107640200-107641200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:107640200-107641200	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:107640200-107641200	Weak transcription	NHLF	lung
19	chr11:107640400-107641400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:107640400-107642400	Enhancers	Fetal Brain Male	brain
21	chr11:107640600-107641000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:107640600-107642000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:107640800-107641200	Weak transcription	Psoas Muscle	Psoas
24	chr11:107641000-107641600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:107641000-107641800	Enhancers	Muscle Satellite Cultured Cells	--

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