Variant report

Variant	esv2632745
Chromosome Location	chr6:160941741-160941741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:160918427..160920098-chr6:160939899..160941930,2	K562	blood:
2	chr6:160939583..160942817-chr6:161087432..161090286,3	K562	blood:
3	chr6:160475075..160476994-chr6:160939802..160942570,2	K562	blood:
4	chr6:160941041..160942817-chr6:161087432..161089515,2	K562	blood:
5	chr6:160940089..160942020-chr6:161411986..161414301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272841	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 92 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373926146	chr6:160941741-160941742	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160940200-160942000	Active TSS	A549	lung
2	chr6:160940400-160941800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:160940400-160941800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:160940400-160941800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr6:160940400-160941800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:160940400-160941800	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr6:160940400-160942200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:160940400-160942200	Active TSS	Duodenum Mucosa	Duodenum
9	chr6:160940600-160941800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:160940600-160941800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:160940600-160941800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:160940600-160941800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:160940600-160942000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:160940600-160942000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:160940600-160942000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:160940600-160942000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:160940600-160942200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:160940600-160942200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:160940600-160942200	Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:160940600-160942200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr6:160940800-160941800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:160940800-160941800	Active TSS	Brain Anterior Caudate	brain
23	chr6:160940800-160941800	Active TSS	Fetal Brain Female	brain
24	chr6:160940800-160941800	Enhancers	Fetal Heart	heart
25	chr6:160940800-160941800	Active TSS	Fetal Intestine Large	intestine
26	chr6:160940800-160941800	Active TSS	Thymus	Thymus
27	chr6:160940800-160941800	Active TSS	K562	blood
28	chr6:160940800-160942000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:160940800-160942000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:160940800-160942000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:160940800-160942000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:160940800-160942000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr6:160940800-160942000	Active TSS	Brain Substantia Nigra	brain
34	chr6:160940800-160942000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:160940800-160942000	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr6:160940800-160942000	Active TSS	NHLF	lung
37	chr6:160940800-160942200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:160940800-160942200	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:160940800-160942200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:160940800-160942200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr6:160940800-160942200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr6:160940800-160942200	Active TSS	Osteobl	bone
43	chr6:160941000-160941800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr6:160941000-160941800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:160941000-160941800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:160941000-160941800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:160941000-160941800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:160941000-160941800	Active TSS	Primary B cells from peripheral blood	blood
49	chr6:160941000-160941800	Active TSS	Primary T cells fromperipheralblood	blood
50	chr6:160941000-160941800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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