Variant report

Variant	nsv1052701
Chromosome Location	chr13:48273757-48326134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUCLA2-8	chr13:48321381-48321699	NONHSAT033685
2	lnc-SUCLA2-6	chr13:48278996-48279452	XLOC_010599
3	lnc-SUCLA2-6	chr13:48273752-48273914	XLOC_010599

Extended variants
information (count: 665 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7982622	chr13:48273757-48273758	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531112988	chr13:48273764-48273765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs116801681	chr13:48273792-48273793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs7319088	chr13:48273793-48273794	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9595765	chr13:48273829-48273830	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145981404	chr13:48273853-48273854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs576254089	chr13:48273903-48273904	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs9562759	chr13:48278762-48278763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577103500	chr13:48278773-48278774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559549406	chr13:48278778-48278779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560556348	chr13:48278785-48278786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9534750	chr13:48278799-48278800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs542373873	chr13:48278842-48278843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543151819	chr13:48278885-48278886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186807654	chr13:48278904-48278905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9534752	chr13:48278996-48278997	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550388572	chr13:48279000-48279001	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191269195	chr13:48279045-48279046	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs117569861	chr13:48279078-48279079	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs114555115	chr13:48279113-48279114	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs60946066	chr13:48279137-48279138	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184993999	chr13:48279206-48279207	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs554143055	chr13:48279207-48279208	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs569454861	chr13:48279226-48279227	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs536733976	chr13:48279266-48279267	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs570856804	chr13:48279320-48279321	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs9526380	chr13:48279341-48279342	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149508137	chr13:48279350-48279351	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs112647836	chr13:48279360-48279361	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs552951811	chr13:48279382-48279383	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs116031853	chr13:48279393-48279394	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs9534753	chr13:48279414-48279415	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561256702	chr13:48279415-48279416	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs531874393	chr13:48279422-48279423	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs548982550	chr13:48279444-48279445	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs543529027	chr13:48279458-48279459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79873425	chr13:48279476-48279477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190494382	chr13:48279540-48279541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548075455	chr13:48279583-48279584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12858940	chr13:48279661-48279662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2181955	chr13:48279662-48279663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554701468	chr13:48279696-48279697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77976812	chr13:48279707-48279708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534411442	chr13:48279708-48279709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372229399	chr13:48279715-48279716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553254968	chr13:48279724-48279725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537340857	chr13:48279746-48279747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140564545	chr13:48279762-48279763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569289215	chr13:48279764-48279765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200607520	chr13:48279818-48279819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48278600-48279200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:48279200-48282400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:48281400-48281600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:48281400-48282200	Enhancers	Hela-S3	cervix
5	chr13:48281800-48282800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:48282200-48282400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:48282200-48282600	Flanking Active TSS	Hela-S3	cervix
8	chr13:48282200-48283400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:48282200-48283400	Enhancers	Adipose Nuclei	Adipose
10	chr13:48282400-48282800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:48282400-48282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr13:48282400-48283000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:48282400-48283000	Enhancers	Osteobl	bone
14	chr13:48282400-48283400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:48282400-48283400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:48282400-48283400	Enhancers	NHEK	skin
17	chr13:48282400-48283800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:48282400-48283800	Enhancers	Placenta	Placenta
19	chr13:48282600-48283000	Enhancers	Hela-S3	cervix
20	chr13:48282600-48283000	Enhancers	NH-A	brain
21	chr13:48282600-48283600	Enhancers	HMEC	breast
22	chr13:48282800-48283200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:48282800-48283600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:48282800-48283800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:48283000-48283400	Flanking Active TSS	Hela-S3	cervix
26	chr13:48283400-48284000	Enhancers	Hela-S3	cervix
27	chr13:48283600-48283800	Bivalent Enhancer	HMEC	breast
28	chr13:48283800-48287000	Weak transcription	Placenta	Placenta
29	chr13:48285400-48285600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:48287000-48287200	Enhancers	Placenta	Placenta
31	chr13:48287200-48287600	Weak transcription	Placenta	Placenta
32	chr13:48287600-48288000	Enhancers	Placenta	Placenta
33	chr13:48292800-48293200	Enhancers	Stomach Smooth Muscle	stomach
34	chr13:48296400-48296600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:48300200-48301200	Enhancers	Hela-S3	cervix
36	chr13:48307600-48308000	Active TSS	Fetal Heart	heart
37	chr13:48309400-48309600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:48319400-48320400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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