Variant report

Variant	nsv455931
Chromosome Location	chr13:67235611-67297898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
2	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
3	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:
4	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:
5	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
6	chr13:67263755..67264355-chr13:67798086..67798947,2	MCF-7	breast:

Extended variants
information (count: 2129 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2129 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4884684	chr13:67235611-67235612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566823574	chr13:67235620-67235621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538978572	chr13:67235641-67235642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559118014	chr13:67235658-67235659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138953414	chr13:67235675-67235676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186707272	chr13:67235681-67235682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544633363	chr13:67235840-67235841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563406724	chr13:67235889-67235890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143802026	chr13:67235890-67235891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574875878	chr13:67235950-67235951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542839490	chr13:67235982-67235983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553230762	chr13:67235994-67235995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190416770	chr13:67236031-67236032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369992144	chr13:67236039-67236040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530512234	chr13:67236053-67236054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181229865	chr13:67236094-67236095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576118009	chr13:67236174-67236175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543705513	chr13:67236180-67236181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185578307	chr13:67236187-67236188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190342514	chr13:67236191-67236192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60088223	chr13:67236193-67236194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201299950	chr13:67236307-67236308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548815013	chr13:67236313-67236314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574817112	chr13:67236323-67236324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373123213	chr13:67236326-67236327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543874815	chr13:67236327-67236328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561030845	chr13:67236330-67236331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529787932	chr13:67236331-67236332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182111348	chr13:67236364-67236365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143231271	chr13:67236375-67236376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532585842	chr13:67236376-67236377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552787803	chr13:67236379-67236380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569458154	chr13:67236402-67236403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148306908	chr13:67236422-67236423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554712215	chr13:67236464-67236465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568544120	chr13:67236469-67236470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534323849	chr13:67236485-67236486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560730398	chr13:67236515-67236516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185352456	chr13:67236547-67236548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74773508	chr13:67236586-67236587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540755562	chr13:67236601-67236602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528406200	chr13:67236605-67236606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535906381	chr13:67236606-67236607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74553136	chr13:67236634-67236635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9540863	chr13:67236718-67236719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191938581	chr13:67236732-67236733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184241172	chr13:67236745-67236746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560281179	chr13:67236764-67236765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188283876	chr13:67236775-67236776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150862078	chr13:67236798-67236799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67230600-67237800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr13:67231600-67240200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:67231800-67240000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:67232000-67237600	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:67232000-67237800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:67232000-67239600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:67232000-67239600	Weak transcription	Brain Substantia Nigra	brain
8	chr13:67232000-67240000	Weak transcription	Brain Anterior Caudate	brain
9	chr13:67234200-67237800	Weak transcription	Brain Angular Gyrus	brain
10	chr13:67234400-67235800	Enhancers	Osteobl	bone
11	chr13:67234400-67239600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr13:67234400-67240000	Weak transcription	Psoas Muscle	Psoas
13	chr13:67234400-67240200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:67234600-67236200	Enhancers	Hela-S3	cervix
15	chr13:67234600-67239600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:67234600-67239600	Weak transcription	HSMMtube	muscle
17	chr13:67234600-67240000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:67234600-67240000	Weak transcription	HMEC	breast
19	chr13:67234800-67236200	Enhancers	A549	lung
20	chr13:67234800-67240000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:67235400-67239600	Weak transcription	NHDF-Ad	bronchial
22	chr13:67235600-67239600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:67235600-67240000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr13:67235600-67240000	Weak transcription	NH-A	brain
25	chr13:67235800-67239600	Weak transcription	Osteobl	bone
26	chr13:67236200-67240000	Weak transcription	A549	lung
27	chr13:67237600-67240600	Enhancers	Brain Hippocampus Middle	brain
28	chr13:67237800-67238200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:67237800-67238200	Enhancers	Brain Angular Gyrus	brain
30	chr13:67237800-67238200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:67237800-67238400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:67237800-67240600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr13:67238000-67238600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:67238200-67239600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:67238200-67239600	Weak transcription	Brain Angular Gyrus	brain
36	chr13:67238200-67240000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:67238600-67240000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:67239200-67240600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:67239600-67240200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:67239600-67240600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr13:67239600-67240600	Enhancers	Brain Cingulate Gyrus	brain
42	chr13:67239600-67240600	Enhancers	Brain Substantia Nigra	brain
43	chr13:67239600-67240600	Enhancers	Fetal Kidney	kidney
44	chr13:67239600-67240600	Enhancers	NHDF-Ad	bronchial
45	chr13:67239600-67240600	Enhancers	Osteobl	bone
46	chr13:67239600-67240800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:67239600-67240800	Enhancers	Brain Angular Gyrus	brain
48	chr13:67239600-67240800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr13:67239600-67240800	Enhancers	HSMMtube	muscle
50	chr13:67239600-67241000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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