Variant report

Variant	nsv341729
Chromosome Location	chr6:114663425-114663425
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	chr6:114662119..114667220-chr6:114669334..114673077,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-5	chr6:114663414-114663553	NONHSAT114608

Variant related genes	Relation type
ENSG00000218089	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 115 )

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	rs5879261	chr6:114663425-114663426	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114659800-114665400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:114661000-114665000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:114661000-114665200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:114661000-114665800	Active TSS	Brain Anterior Caudate	brain
5	chr6:114661200-114665000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:114661200-114665200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:114661400-114665200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:114661400-114665400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:114661400-114665600	Active TSS	Brain Angular Gyrus	brain
10	chr6:114661600-114665000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:114661600-114665200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:114661800-114665000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:114662200-114665200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:114662200-114665400	Active TSS	Brain Substantia Nigra	brain
15	chr6:114662200-114665600	Active TSS	Brain Cingulate Gyrus	brain
16	chr6:114662400-114664000	Bivalent/Poised TSS	HepG2	liver
17	chr6:114662400-114664400	Active TSS	HSMMtube	muscle
18	chr6:114662400-114665000	Active TSS	Fetal Kidney	kidney
19	chr6:114662400-114665400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr6:114662600-114663600	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr6:114662600-114664200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:114662600-114664600	Active TSS	HSMM	muscle
23	chr6:114662600-114664800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr6:114662800-114663600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:114662800-114663800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
26	chr6:114662800-114663800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr6:114662800-114663800	Bivalent Enhancer	Placenta	Placenta
28	chr6:114662800-114663800	Bivalent Enhancer	Spleen	Spleen
29	chr6:114662800-114664000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:114662800-114664400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:114662800-114664400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
32	chr6:114662800-114664600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
33	chr6:114662800-114664800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:114662800-114665000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:114662800-114665000	Active TSS	Colon Smooth Muscle	Colon
36	chr6:114662800-114665200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:114663000-114663600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:114663000-114663600	Bivalent Enhancer	HUVEC	blood vessel
39	chr6:114663000-114664000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:114663000-114664600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:114663000-114664800	Bivalent/Poised TSS	NHLF	lung
42	chr6:114663000-114665000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:114663000-114665000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:114663000-114665000	Bivalent Enhancer	Liver	Liver
45	chr6:114663000-114665000	Bivalent/Poised TSS	Psoas Muscle	Psoas
46	chr6:114663200-114663600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:114663200-114663600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:114663200-114663600	Flanking Active TSS	Pancreas	Pancrea
49	chr6:114663200-114663600	Flanking Bivalent TSS/Enh	Thymus	Thymus
50	chr6:114663200-114663800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin

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