Variant report

Variant	esv1626435
Chromosome Location	chr6:147526530-147526534
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	CEBPB	chr6:147525682-147527227	Hela-S3	cervix:	n/a	chr6:147526571-147526584
2	GATA1	chr6:147525669-147526542	PBDE	blood:	n/a	chr6:147526212-147526220
3	IRF1	chr6:147525523-147527405	K562	blood:	n/a	chr6:147526878-147526890 chr6:147527041-147527055 chr6:147526209-147526220 chr6:147526878-147526890 chr6:147525907-147525916 chr6:147526876-147526893 chr6:147526956-147526968 chr6:147526878-147526895 chr6:147526957-147526967
4	IRF1	chr6:147525380-147528371	K562	blood:	n/a	chr6:147526878-147526890 chr6:147527041-147527055 chr6:147526209-147526220 chr6:147526878-147526890 chr6:147525907-147525916 chr6:147527979-147527993 chr6:147526876-147526893 chr6:147526956-147526968 chr6:147526878-147526895 chr6:147526957-147526967
5	POLR2A	chr6:147522607-147527416	K562	blood:	n/a	n/a
6	POLR2A	chr6:147526471-147528189	K562	blood:	n/a	n/a
7	POLR2A	chr6:147522796-147527921	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr6:147522969-147526535	MCF10A-Er-Src	breast:	n/a	n/a
9	TAF1	chr6:147526363-147527318	K562	blood:	n/a	n/a
10	TEAD4	chr6:147526526-147527355	K562	blood:	n/a	n/a
11	UBTF	chr6:147523057-147527635	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147477631..147490692-chr6:147521132..147530003,24	K562	blood:
2	chr6:147478214..147481987-chr6:147524471..147526667,3	MCF-7	breast:
3	chr6:147475725..147486468-chr6:147521132..147528058,22	K562	blood:
4	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:
5	chr6:147232346..147237544-chr6:147521050..147527983,13	K562	blood:
6	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:

Variant related genes	Relation type
STXBP5-AS1	TF binding region
STXBP5	TF binding region
ENSG00000196634	chromatin interactions
ENSG00000233452	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66924827	chr6:147526531-147526532	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs145139309	chr6:147526532-147526533	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Autism	21448237	CNVD
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	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
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147522800-147528600	Active TSS	Duodenum Mucosa	Duodenum
2	chr6:147522800-147529000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:147523000-147526600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr6:147523000-147526800	Active TSS	Brain Substantia Nigra	brain
5	chr6:147523000-147526800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr6:147523000-147526800	Active TSS	Fetal Brain Male	brain
7	chr6:147523000-147527000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr6:147523000-147527000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:147523000-147527000	Active TSS	Fetal Stomach	stomach
10	chr6:147523000-147527000	Active TSS	Psoas Muscle	Psoas
11	chr6:147523000-147527000	Active TSS	Rectal Smooth Muscle	rectum
12	chr6:147523000-147527000	Active TSS	Thymus	Thymus
13	chr6:147523000-147527000	Active TSS	GM12878-XiMat	blood
14	chr6:147523000-147527000	Active TSS	NH-A	brain
15	chr6:147523000-147527200	Active TSS	Colonic Mucosa	Colon
16	chr6:147523000-147527200	Active TSS	A549	lung
17	chr6:147523000-147527400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:147523000-147527400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:147523000-147527400	Active TSS	Fetal Intestine Small	intestine
20	chr6:147523000-147527600	Active TSS	Fetal Intestine Large	intestine
21	chr6:147523000-147527800	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr6:147523000-147528000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:147523000-147528600	Active TSS	Brain Cingulate Gyrus	brain
24	chr6:147523000-147528800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:147523000-147528800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:147523000-147528800	Active TSS	Brain Anterior Caudate	brain
27	chr6:147523000-147528800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr6:147523000-147529000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:147523000-147529200	Active TSS	NHLF	lung
30	chr6:147523000-147529600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr6:147523000-147529600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:147523000-147529800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr6:147523200-147526600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:147523200-147527000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr6:147523200-147527400	Active TSS	Aorta	Aorta
36	chr6:147523200-147527400	Active TSS	HSMMtube	muscle
37	chr6:147523200-147527800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:147523200-147528400	Active TSS	K562	blood
39	chr6:147523200-147528800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:147523400-147526600	Active TSS	Brain Hippocampus Middle	brain
41	chr6:147523400-147526800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:147523400-147526800	Active TSS	Fetal Thymus	thymus
43	chr6:147523400-147527000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:147523400-147527400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:147523400-147527400	Active TSS	HSMM	muscle
46	chr6:147523400-147528400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:147523400-147528600	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr6:147523400-147528600	Active TSS	NHDF-Ad	bronchial
49	chr6:147523400-147528800	Active TSS	Brain Angular Gyrus	brain
50	chr6:147523400-147529000	Active TSS	NHEK	skin

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