Variant report

Variant	nsv1050859
Chromosome Location	chr13:66097803-66140439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 357 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140703519	chr13:66102424-66102425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369791866	chr13:66102488-66102489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373509141	chr13:66102512-66102513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551963994	chr13:66102517-66102518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554119236	chr13:66102568-66102569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570784363	chr13:66102571-66102572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143778956	chr13:66102610-66102611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556590233	chr13:66102750-66102751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568753551	chr13:66102775-66102776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542440064	chr13:66102783-66102784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147219376	chr13:66102784-66102785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574572211	chr13:66102790-66102791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539983769	chr13:66102796-66102797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560067827	chr13:66102799-66102800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533881674	chr13:66102821-66102822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568533127	chr13:66102849-66102850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78908103	chr13:66102868-66102869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180957838	chr13:66102954-66102955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11148683	chr13:66102973-66102974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567947958	chr13:66102985-66102986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73514611	chr13:66102997-66102998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142173485	chr13:66103026-66103027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547739381	chr13:66103047-66103048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570785510	chr13:66103052-66103053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34826860	chr13:66103075-66103076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186295556	chr13:66103085-66103086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112472336	chr13:66103093-66103094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs8000508	chr13:66103107-66103108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4883757	chr13:66103122-66103123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75513461	chr13:66103210-66103211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139113409	chr13:66103215-66103216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540291480	chr13:66103288-66103289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558622202	chr13:66103304-66103305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368659232	chr13:66103309-66103310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114070017	chr13:66103401-66103402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576723917	chr13:66103434-66103435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545477925	chr13:66103441-66103442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537747139	chr13:66103443-66103444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71442668	chr13:66103482-66103483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370852327	chr13:66103489-66103490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115050392	chr13:66103497-66103498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34355253	chr13:66103500-66103501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548107622	chr13:66103531-66103532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561516563	chr13:66103548-66103549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189508287	chr13:66103565-66103566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547823595	chr13:66103569-66103570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111822630	chr13:66103597-66103598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34114804	chr13:66103631-66103632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549893381	chr13:66103641-66103642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200401793	chr13:66103649-66103650	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66102400-66103200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:66102600-66104600	Enhancers	Fetal Lung	lung
3	chr13:66102800-66103200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:66102800-66103200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:66104200-66107400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:66104400-66105600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:66104800-66105000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:66113800-66114800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:66113800-66115000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:66114200-66114400	Active TSS	A549	lung
11	chr13:66114200-66114800	Enhancers	NH-A	brain
12	chr13:66114400-66114600	Flanking Active TSS	A549	lung
13	chr13:66114600-66114800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:66114800-66115000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:66114800-66115000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:66116000-66116400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:66127000-66127800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:66127400-66127800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:66129800-66130200	Enhancers	Brain Germinal Matrix	brain
20	chr13:66130000-66130600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:66130000-66130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:66130200-66131000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:66130600-66131600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:66131600-66131800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links