Variant report

Variant	esv3384003
Chromosome Location	chr15:78344218-78344443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D2B-4	chr15:78342467-78345090	ucscGeneNc_uc002bfo_2
2	lnc-TBC1D2B-4	chr15:78344342-78345090	l_1195_chr15:78344341-78421177_testes

Extended variants
information (count: 9 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569567406	chr15:78344267-78344268	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs4886996	chr15:78344268-78344269	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141541438	chr15:78344293-78344294	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs28526206	chr15:78344308-78344309	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs567078395	chr15:78344312-78344313	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs147073632	chr15:78344359-78344360	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554793765	chr15:78344384-78344385	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs555841743	chr15:78344406-78344407	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs573907995	chr15:78344410-78344411	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:78309200-78354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:78317000-78344400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:78317800-78344400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:78317800-78344400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:78327600-78351400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:78331200-78344400	Weak transcription	Psoas Muscle	Psoas
8	chr15:78331400-78348600	Weak transcription	A549	lung
9	chr15:78331600-78348600	Weak transcription	K562	blood
10	chr15:78336600-78344400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:78337000-78347800	Weak transcription	Ovary	ovary
12	chr15:78337200-78344400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr15:78337800-78344600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:78338200-78344400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr15:78338600-78345400	Enhancers	Duodenum Mucosa	Duodenum
16	chr15:78338800-78344600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:78338800-78344800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:78338800-78347000	Genic enhancers	Fetal Thymus	thymus
19	chr15:78339000-78344800	Enhancers	Colon Smooth Muscle	Colon
20	chr15:78339000-78345000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:78339000-78345000	Enhancers	Small Intestine	intestine
22	chr15:78339000-78345200	Genic enhancers	Fetal Stomach	stomach
23	chr15:78339000-78345400	Enhancers	Primary B cells from cord blood	blood
24	chr15:78339000-78346400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr15:78339200-78344800	Enhancers	Brain Angular Gyrus	brain
26	chr15:78339200-78344800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr15:78339400-78344600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:78340000-78345200	Enhancers	Right Atrium	heart
29	chr15:78340000-78345200	Enhancers	NH-A	brain
30	chr15:78340200-78344800	Enhancers	Brain Hippocampus Middle	brain
31	chr15:78340600-78344400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:78340800-78344400	Weak transcription	Gastric	stomach
33	chr15:78340800-78346200	Genic enhancers	Liver	Liver
34	chr15:78341200-78345200	Genic enhancers	Fetal Lung	lung
35	chr15:78341400-78344400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr15:78341400-78344800	Weak transcription	Esophagus	oesophagus
37	chr15:78341400-78344800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr15:78341400-78345600	Enhancers	Brain Cingulate Gyrus	brain
39	chr15:78341800-78344800	Enhancers	Fetal Brain Female	brain
40	chr15:78341800-78345600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:78342000-78344400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:78342000-78344600	Enhancers	Primary B cells from peripheral blood	blood
43	chr15:78342000-78345000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:78342000-78345000	Enhancers	Colonic Mucosa	Colon
45	chr15:78342000-78345200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:78342200-78345000	Enhancers	Fetal Intestine Large	intestine
47	chr15:78342200-78345600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr15:78342400-78344600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr15:78342400-78344600	Enhancers	Dnd41	blood
50	chr15:78342400-78344800	Enhancers	Thymus	Thymus

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