Variant report

Variant	nsv900066
Chromosome Location	chr13:48234112-48292845
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	chr11:70414027..70414931-chr13:48252954..48253516,2	MCF-7	breast:

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

Extended variants
information (count: 1234 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:1234 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141830727	chr13:48234606-48234607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150225768	chr13:48234622-48234623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189936609	chr13:48234635-48234636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541585693	chr13:48234640-48234641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559887126	chr13:48234646-48234647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540126048	chr13:48234648-48234649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557213556	chr13:48234688-48234689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139133828	chr13:48234696-48234697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563798715	chr13:48234706-48234707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531272695	chr13:48234707-48234708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570794432	chr13:48234709-48234710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551878825	chr13:48234713-48234714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564158618	chr13:48234726-48234727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528081720	chr13:48234753-48234754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546249160	chr13:48234757-48234758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567831731	chr13:48234759-48234760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143223854	chr13:48234800-48234801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181573898	chr13:48234814-48234815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112172059	chr13:48234919-48234920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140215932	chr13:48234947-48234948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113824229	chr13:48234998-48234999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12428057	chr13:48235007-48235008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535023173	chr13:48235022-48235023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553066335	chr13:48235049-48235050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184758082	chr13:48235050-48235051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542044529	chr13:48235071-48235072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77782331	chr13:48235076-48235077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575846977	chr13:48235143-48235144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546432750	chr13:48235151-48235152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563551159	chr13:48235184-48235185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372172458	chr13:48235261-48235262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564633744	chr13:48235274-48235275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528043830	chr13:48235283-48235284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144382510	chr13:48235284-48235285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189472161	chr13:48235289-48235290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528988110	chr13:48235301-48235302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550492047	chr13:48235333-48235334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9526370	chr13:48235339-48235340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs554845645	chr13:48235400-48235401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532985251	chr13:48235406-48235407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111792173	chr13:48235413-48235414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148410479	chr13:48235425-48235426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180706060	chr13:48235443-48235444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17070629	chr13:48235451-48235452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs553430273	chr13:48235458-48235459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142509331	chr13:48235468-48235469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186486745	chr13:48235502-48235503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535994435	chr13:48235541-48235542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190922604	chr13:48235542-48235543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146466019	chr13:48235552-48235553	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48234600-48236200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:48235200-48235600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48235200-48235600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:48235200-48235600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:48235200-48235800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:48235400-48236200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:48235400-48236400	Enhancers	NHDF-Ad	bronchial
8	chr13:48235600-48235800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:48235800-48236200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:48236200-48239000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:48236200-48239400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:48238400-48239400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:48238400-48239400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:48238600-48239200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:48238600-48239200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:48238600-48239400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:48238600-48239400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:48238600-48239400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:48238800-48239400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:48238800-48239400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:48238800-48239400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr13:48239000-48239400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr13:48239000-48239400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:48239000-48239600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:48245400-48245800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:48245400-48245800	Enhancers	NHDF-Ad	bronchial
27	chr13:48245400-48246400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr13:48245400-48248000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:48245600-48246000	Enhancers	Fetal Brain Male	brain
30	chr13:48245600-48249600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:48245800-48246000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:48245800-48246000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:48245800-48246200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr13:48245800-48248000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr13:48245800-48248400	Enhancers	Hela-S3	cervix
36	chr13:48246000-48246200	Weak transcription	Fetal Brain Male	brain
37	chr13:48246000-48246400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:48246000-48246400	Enhancers	NHLF	lung
39	chr13:48246000-48246800	Enhancers	Fetal Stomach	stomach
40	chr13:48246000-48247200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:48246000-48247800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:48246000-48248000	Enhancers	HSMMtube	muscle
43	chr13:48246200-48246400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:48246200-48246600	Enhancers	Fetal Brain Male	brain
45	chr13:48246200-48248000	Enhancers	NHDF-Ad	bronchial
46	chr13:48246400-48246600	Enhancers	Psoas Muscle	Psoas
47	chr13:48246400-48246800	Enhancers	Fetal Lung	lung
48	chr13:48246400-48246800	Enhancers	Fetal Muscle Leg	muscle
49	chr13:48246400-48246800	Enhancers	Right Atrium	heart
50	chr13:48246400-48246800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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