Variant report

Variant	esv3353953
Chromosome Location	chr11:85437954-85438137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:85436572-85438080	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr11:85436713-85437994	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr11:85437476-85437956	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:85437886-85438288	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85434348..85438681-chr11:85520824..85523815,4	MCF-7	breast:
2	chr11:85374169..85377247-chr11:85434867..85438072,3	MCF-7	breast:

Variant related genes	Relation type
SYTL2	TF binding region
ENSG00000137501	chromatin interactions
ENSG00000137504	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 87 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184014588	chr11:85437959-85437960	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs568355733	chr11:85438059-85438060	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs535344814	chr11:85438094-85438095	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	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
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
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	18438408	CNVD
Cancer	17440070	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
2	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:85417600-85453000	Weak transcription	Gastric	stomach
4	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
5	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:85430400-85459000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
9	chr11:85430600-85447000	Weak transcription	Ovary	ovary
10	chr11:85430800-85445000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:85430800-85447200	Weak transcription	Fetal Stomach	stomach
12	chr11:85430800-85448800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:85430800-85459000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:85431000-85445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:85431400-85451600	Weak transcription	HSMMtube	muscle
16	chr11:85431800-85466600	Weak transcription	Brain Substantia Nigra	brain
17	chr11:85432000-85460800	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:85432200-85448400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:85433800-85448600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:85434000-85439400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:85434200-85439800	Strong transcription	Primary T cells from cord blood	blood
22	chr11:85434600-85445000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:85434800-85448200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:85435200-85439000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:85435400-85438000	Enhancers	NHDF-Ad	bronchial
26	chr11:85435400-85439000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:85435400-85448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:85435600-85456400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:85436000-85438000	Enhancers	Hela-S3	cervix
30	chr11:85436200-85438000	Enhancers	NHEK	skin
31	chr11:85436200-85443600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:85436400-85438400	Enhancers	HMEC	breast
33	chr11:85436600-85438000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:85436600-85449200	Weak transcription	Small Intestine	intestine
35	chr11:85436800-85438400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:85436800-85448800	Weak transcription	Left Ventricle	heart
37	chr11:85437000-85438200	Enhancers	HUVEC	blood vessel
38	chr11:85437000-85439000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:85437000-85441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:85437000-85447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:85437400-85438400	Genic enhancers	Stomach Mucosa	stomach
42	chr11:85437400-85439400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:85437600-85438400	Genic enhancers	Fetal Kidney	kidney
44	chr11:85437600-85439000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:85437600-85451000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:85437600-85451600	Weak transcription	Osteobl	bone
47	chr11:85437600-85459800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:85437800-85438800	Genic enhancers	NHLF	lung
49	chr11:85437800-85439000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:85437800-85439000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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