Variant report

Variant	esv3414850
Chromosome Location	chr7:4456067-4456334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RADIL-3	chr7:4455727-4456136	XLOC_006344

Extended variants
information (count: 14 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182173853	chr7:4456085-4456086	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs187212335	chr7:4456112-4456113	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs114522907	chr7:4456116-4456117	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs11533903	chr7:4456129-4456130	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs537147574	chr7:4456131-4456132	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs112906974	chr7:4456132-4456133	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs558861828	chr7:4456152-4456153	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539378739	chr7:4456156-4456157	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552811974	chr7:4456167-4456168	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572709168	chr7:4456194-4456195	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1374669	chr7:4456285-4456286	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1009528	chr7:4456304-4456305	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs575337419	chr7:4456317-4456318	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577037721	chr7:4456319-4456320	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4455000-4457600	Enhancers	Fetal Intestine Small	intestine
2	chr7:4455600-4456600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:4455800-4456200	Active TSS	Aorta	Aorta
4	chr7:4455800-4456200	Active TSS	Brain Germinal Matrix	brain
5	chr7:4455800-4456200	Flanking Active TSS	Brain Substantia Nigra	brain
6	chr7:4455800-4456200	Active TSS	Fetal Lung	lung
7	chr7:4455800-4456400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:4455800-4456400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:4455800-4456400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:4455800-4456400	Active TSS	Brain Hippocampus Middle	brain
11	chr7:4455800-4456400	Active TSS	Colon Smooth Muscle	Colon
12	chr7:4455800-4456400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:4455800-4456400	Active TSS	A549	lung
14	chr7:4455800-4456600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:4455800-4456600	Active TSS	Brain Angular Gyrus	brain
16	chr7:4455800-4456600	Active TSS	Brain Anterior Caudate	brain
17	chr7:4455800-4456600	Active TSS	Brain Cingulate Gyrus	brain
18	chr7:4455800-4456600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:4455800-4456600	Active TSS	Stomach Mucosa	stomach
20	chr7:4455800-4456600	Active TSS	Stomach Smooth Muscle	stomach
21	chr7:4456000-4456200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:4456000-4456200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:4456000-4456200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr7:4456000-4456400	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr7:4456000-4456400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:4456000-4456400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:4456000-4456400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr7:4456000-4456400	Flanking Active TSS	Fetal Brain Female	brain
29	chr7:4456000-4456400	Active TSS	Fetal Intestine Large	intestine
30	chr7:4456000-4456400	Enhancers	Fetal Muscle Trunk	muscle
31	chr7:4456000-4456400	Flanking Active TSS	Fetal Stomach	stomach
32	chr7:4456000-4456400	Enhancers	Ovary	ovary
33	chr7:4456000-4456400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:4456000-4456400	Active TSS	Rectal Smooth Muscle	rectum
35	chr7:4456000-4456400	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr7:4456000-4456400	Flanking Active TSS	HepG2	liver
37	chr7:4456000-4456600	Enhancers	Fetal Brain Male	brain
38	chr7:4456000-4456800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:4456000-4456800	Active TSS	Duodenum Mucosa	Duodenum
40	chr7:4456000-4456800	Enhancers	Gastric	stomach
41	chr7:4456200-4456600	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr7:4456200-4456600	Active TSS	Brain Substantia Nigra	brain

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