Variant report

Variant	nsv561585
Chromosome Location	chr13:47808232-47839338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 538 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9526290	chr13:47808232-47808233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192429280	chr13:47808249-47808250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137956274	chr13:47808250-47808251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184430739	chr13:47808284-47808285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149031484	chr13:47808286-47808287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536555568	chr13:47808298-47808299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548465137	chr13:47808328-47808329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569882900	chr13:47808341-47808342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537215716	chr13:47808374-47808375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77582201	chr13:47808393-47808394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74072866	chr13:47808417-47808418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9526291	chr13:47808464-47808465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552690374	chr13:47808510-47808511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574327124	chr13:47808595-47808596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145901401	chr13:47808614-47808615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9562725	chr13:47808626-47808627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575453213	chr13:47808634-47808635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545963356	chr13:47808651-47808652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370557209	chr13:47808723-47808724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564647052	chr13:47808734-47808735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528577194	chr13:47808786-47808787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547027299	chr13:47808846-47808847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561948830	chr13:47809019-47809020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17324069	chr13:47809035-47809036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188627353	chr13:47809056-47809057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192730049	chr13:47809088-47809089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374055463	chr13:47809096-47809097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537277184	chr13:47809150-47809151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142816924	chr13:47809225-47809226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147396040	chr13:47809254-47809255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534422031	chr13:47809332-47809333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537771048	chr13:47809336-47809337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77560712	chr13:47809363-47809364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567731346	chr13:47809375-47809376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112661076	chr13:47809400-47809401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557256890	chr13:47809428-47809429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77274308	chr13:47809474-47809475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541076809	chr13:47809505-47809506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150586112	chr13:47809542-47809543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374444785	chr13:47809568-47809569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76197161	chr13:47809579-47809580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540387264	chr13:47809592-47809593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79115016	chr13:47809596-47809597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529334260	chr13:47809601-47809602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544601854	chr13:47809605-47809606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73178168	chr13:47809629-47809630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7996698	chr13:47809689-47809690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs544792304	chr13:47809710-47809711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35278231	chr13:47809736-47809737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7335241	chr13:47809878-47809879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:136)

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
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Lung cancer	20668451	CNVD
Cancer	21278246	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21390271	CNVD
Glioblastoma multiforme	22286061	CNVD
infertile	18676362	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22315472	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47806000-47809800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:47809800-47810800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr13:47810800-47812000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:47811200-47812200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:47811200-47812600	Enhancers	NHDF-Ad	bronchial
6	chr13:47811800-47812200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:47812200-47812800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:47823000-47823200	Enhancers	Aorta	Aorta
9	chr13:47823000-47824400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:47823000-47827600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:47823200-47823400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:47823200-47825400	Weak transcription	Aorta	Aorta
13	chr13:47823200-47825600	Enhancers	NHDF-Ad	bronchial
14	chr13:47823400-47825000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:47823400-47825400	Enhancers	NHEK	skin
16	chr13:47823600-47824000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:47823800-47825000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:47824000-47824800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:47824000-47825000	Enhancers	Colon Smooth Muscle	Colon
20	chr13:47824400-47824600	Active TSS	Stomach Smooth Muscle	stomach
21	chr13:47824400-47824800	Enhancers	HMEC	breast
22	chr13:47824400-47825000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:47824400-47825000	Enhancers	NH-A	brain
24	chr13:47824400-47825000	Enhancers	Osteobl	bone
25	chr13:47824600-47824800	Enhancers	Rectal Smooth Muscle	rectum
26	chr13:47824600-47824800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr13:47824600-47825000	Enhancers	Adipose Nuclei	Adipose
28	chr13:47824800-47830400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:47825000-47825400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:47825000-47825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:47825000-47826800	Weak transcription	Osteobl	bone
32	chr13:47825000-47830400	Weak transcription	NH-A	brain
33	chr13:47825400-47825600	Enhancers	Aorta	Aorta
34	chr13:47825400-47825800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:47825400-47826200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:47825400-47830400	Weak transcription	NHEK	skin
37	chr13:47825600-47826400	Weak transcription	Aorta	Aorta
38	chr13:47825600-47826600	Weak transcription	NHDF-Ad	bronchial
39	chr13:47825800-47828400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:47826200-47828000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:47826400-47828000	Enhancers	Aorta	Aorta
42	chr13:47826600-47827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:47826600-47827600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:47826600-47828000	Enhancers	NHDF-Ad	bronchial
45	chr13:47826800-47827400	Enhancers	Osteobl	bone
46	chr13:47827200-47830600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:47827400-47830600	Weak transcription	Osteobl	bone
48	chr13:47827600-47830400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:47827600-47832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr13:47828000-47830200	Weak transcription	NHDF-Ad	bronchial

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