Variant report

Variant	nsv1047818
Chromosome Location	chr13:48264618-48327155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUCLA2-6	chr13:48273752-48273914	XLOC_010599
2	lnc-SUCLA2-8	chr13:48321381-48321699	NONHSAT033685
3	lnc-SUCLA2-6	chr13:48278996-48279452	XLOC_010599
4	lnc-SUCLA2-6	chr13:48270851-48270892	XLOC_010599

Extended variants
information (count: 749 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554444758	chr13:48270872-48270873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs544898776	chr13:48270875-48270876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs149988381	chr13:48271444-48271445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386770767	chr13:48271461-48271462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58505182	chr13:48271463-48271464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs578238514	chr13:48271473-48271474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117425808	chr13:48271480-48271481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545725992	chr13:48271559-48271560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553457359	chr13:48271589-48271590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572029865	chr13:48271596-48271597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142333077	chr13:48271601-48271602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561076284	chr13:48271602-48271603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531397847	chr13:48271641-48271642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386770768	chr13:48271720-48271721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7328611	chr13:48271721-48271722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529067982	chr13:48271723-48271724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74990265	chr13:48271724-48271725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78535942	chr13:48271733-48271734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532237261	chr13:48271738-48271739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191113461	chr13:48271746-48271747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542423292	chr13:48271769-48271770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566730431	chr13:48271831-48271832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562822218	chr13:48271835-48271836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78852034	chr13:48271838-48271839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549200115	chr13:48271879-48271880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78183124	chr13:48271893-48271894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567807019	chr13:48271924-48271925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76771217	chr13:48271926-48271927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6561399	chr13:48271941-48271942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs6561400	chr13:48271966-48271967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs182289404	chr13:48271978-48271979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539312990	chr13:48272013-48272014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547491910	chr13:48272017-48272018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146657721	chr13:48272033-48272034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7993034	chr13:48272034-48272035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542650477	chr13:48272044-48272045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11321343	chr13:48272084-48272085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186606935	chr13:48272090-48272091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116404582	chr13:48272117-48272118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9534744	chr13:48272122-48272123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192651931	chr13:48272136-48272137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74472844	chr13:48272172-48272173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576654550	chr13:48272188-48272189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9534745	chr13:48272198-48272199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183217127	chr13:48272251-48272252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61973342	chr13:48272284-48272285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549313132	chr13:48272303-48272304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561277317	chr13:48272310-48272311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7993140	chr13:48272320-48272321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7993633	chr13:48272352-48272353	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48271400-48272400	Enhancers	Fetal Lung	lung
2	chr13:48271800-48273200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr13:48278600-48279200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:48279200-48282400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:48281400-48281600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:48281400-48282200	Enhancers	Hela-S3	cervix
7	chr13:48281800-48282800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:48282200-48282400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:48282200-48282600	Flanking Active TSS	Hela-S3	cervix
10	chr13:48282200-48283400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:48282200-48283400	Enhancers	Adipose Nuclei	Adipose
12	chr13:48282400-48282800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:48282400-48282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:48282400-48283000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:48282400-48283000	Enhancers	Osteobl	bone
16	chr13:48282400-48283400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:48282400-48283400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:48282400-48283400	Enhancers	NHEK	skin
19	chr13:48282400-48283800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:48282400-48283800	Enhancers	Placenta	Placenta
21	chr13:48282600-48283000	Enhancers	Hela-S3	cervix
22	chr13:48282600-48283000	Enhancers	NH-A	brain
23	chr13:48282600-48283600	Enhancers	HMEC	breast
24	chr13:48282800-48283200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:48282800-48283600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:48282800-48283800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:48283000-48283400	Flanking Active TSS	Hela-S3	cervix
28	chr13:48283400-48284000	Enhancers	Hela-S3	cervix
29	chr13:48283600-48283800	Bivalent Enhancer	HMEC	breast
30	chr13:48283800-48287000	Weak transcription	Placenta	Placenta
31	chr13:48285400-48285600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:48287000-48287200	Enhancers	Placenta	Placenta
33	chr13:48287200-48287600	Weak transcription	Placenta	Placenta
34	chr13:48287600-48288000	Enhancers	Placenta	Placenta
35	chr13:48292800-48293200	Enhancers	Stomach Smooth Muscle	stomach
36	chr13:48296400-48296600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:48300200-48301200	Enhancers	Hela-S3	cervix
38	chr13:48307600-48308000	Active TSS	Fetal Heart	heart
39	chr13:48309400-48309600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:48319400-48320400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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