Variant report

Variant	esv2114330
Chromosome Location	chr6:118867203-118867205
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	RFX5	chr6:118867168-118867212	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118864850..118867367-chr6:118869435..118872400,3	K562	blood:

Variant related genes	Relation type
PLN	TF binding region
ENSG00000198523	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 110 )

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	rs58524043	chr6:118867203-118867204	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186470806	chr6:118867204-118867205	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs398002691	chr6:118867205-118867206	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118824200-118869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:118836600-118869400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:118844800-118872000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:118844800-118875800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:118845200-118880000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:118846000-118875600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:118846200-118878600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:118847800-118895400	Weak transcription	Pancreas	Pancrea
9	chr6:118851000-118867400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:118852600-118895200	Weak transcription	Primary B cells from cord blood	blood
11	chr6:118857800-118869400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:118858000-118871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:118859000-118869000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:118859400-118880200	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:118862400-118871800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:118863000-118868400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:118864200-118871600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:118864400-118868000	Weak transcription	HSMM	muscle
19	chr6:118864400-118871600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:118864400-118872200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:118864400-118872600	Weak transcription	HMEC	breast
22	chr6:118864400-118895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:118865200-118867800	Weak transcription	Aorta	Aorta
24	chr6:118865400-118872200	Weak transcription	Osteobl	bone
25	chr6:118865600-118869400	Weak transcription	NH-A	brain
26	chr6:118866200-118867400	Weak transcription	Right Ventricle	heart
27	chr6:118866400-118869200	Weak transcription	Primary T cells from cord blood	blood
28	chr6:118866400-118869200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:118866800-118869400	Active TSS	Fetal Heart	heart
30	chr6:118867000-118867400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:118867000-118868000	Enhancers	Rectal Smooth Muscle	rectum
32	chr6:118867000-118868400	Enhancers	Stomach Mucosa	stomach
33	chr6:118867000-118868600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:118867000-118878800	Active TSS	Right Atrium	heart
35	chr6:118867200-118868200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:118867200-118868400	Enhancers	Colon Smooth Muscle	Colon

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