Variant report

Variant	nsv900692
Chromosome Location	chr13:85218788-85294881
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	chr13:85244609..85247109-chr13:85249770..85251885,2	K562	blood:
2	chr13:85244609..85247109-chr13:85249770..85251885,2	K562	blood:

Extended variants
information (count: 1334 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11843965	chr13:85218788-85218789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183235324	chr13:85218789-85218790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117498851	chr13:85218798-85218799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570377439	chr13:85218815-85218816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7320733	chr13:85218826-85218827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142237585	chr13:85218848-85218849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568356579	chr13:85218936-85218937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531709851	chr13:85218951-85218952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549591743	chr13:85218972-85218973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73532275	chr13:85219012-85219013	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552987699	chr13:85219102-85219103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75449928	chr13:85219112-85219113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572594532	chr13:85219159-85219160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372766495	chr13:85219188-85219189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546386507	chr13:85219189-85219190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558392898	chr13:85219191-85219192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576629445	chr13:85219210-85219211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57295164	chr13:85219278-85219279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543755696	chr13:85219298-85219299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562444515	chr13:85219324-85219325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187787790	chr13:85219342-85219343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372882146	chr13:85219349-85219350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148876286	chr13:85219369-85219370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559786600	chr13:85219386-85219387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527397669	chr13:85219424-85219425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551910478	chr13:85219498-85219499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143520348	chr13:85219505-85219506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192452888	chr13:85219527-85219528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182352939	chr13:85219586-85219587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549793270	chr13:85219615-85219616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186580982	chr13:85219642-85219643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535454896	chr13:85219790-85219791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554225710	chr13:85219827-85219828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566138567	chr13:85219829-85219830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539943016	chr13:85219858-85219859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376154134	chr13:85219876-85219877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558330044	chr13:85219892-85219893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564621995	chr13:85219899-85219900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544027479	chr13:85219943-85219944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555761873	chr13:85219955-85219956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574294696	chr13:85219968-85219969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9575625	chr13:85220010-85220011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547310576	chr13:85220042-85220043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147996282	chr13:85220062-85220063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571758010	chr13:85220070-85220071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545488180	chr13:85220122-85220123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564244476	chr13:85220179-85220180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531385436	chr13:85220184-85220185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549971537	chr13:85220207-85220208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192774073	chr13:85220210-85220211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85210400-85219400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:85216400-85218800	Weak transcription	Osteobl	bone
3	chr13:85218600-85220400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:85218600-85222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:85218800-85220000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:85218800-85220200	Enhancers	Aorta	Aorta
7	chr13:85218800-85220400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr13:85218800-85220400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:85218800-85220400	Enhancers	HSMM	muscle
10	chr13:85218800-85220600	Enhancers	Osteobl	bone
11	chr13:85219000-85220400	Enhancers	Primary hematopoietic stem cells	blood
12	chr13:85219200-85220000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:85219200-85225200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:85219400-85219800	Enhancers	Rectal Smooth Muscle	rectum
15	chr13:85219400-85220000	Enhancers	NHEK	skin
16	chr13:85219400-85220200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:85219400-85220600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:85219600-85219800	Enhancers	Right Ventricle	heart
19	chr13:85219600-85220000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:85219600-85220000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr13:85219600-85220000	Enhancers	Stomach Smooth Muscle	stomach
22	chr13:85219600-85220200	Enhancers	NH-A	brain
23	chr13:85219800-85220000	Enhancers	Left Ventricle	heart
24	chr13:85219800-85220400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:85219800-85227600	Weak transcription	Right Ventricle	heart
26	chr13:85219800-85229800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr13:85220000-85221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:85220000-85224000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:85220000-85224000	Weak transcription	NHEK	skin
30	chr13:85220000-85225400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:85220200-85223800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:85220200-85224000	Weak transcription	NH-A	brain
33	chr13:85220200-85225600	Weak transcription	Left Ventricle	heart
34	chr13:85220400-85220800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:85220400-85220800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr13:85220400-85220800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:85220400-85228200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:85220600-85221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:85220600-85221000	Weak transcription	Osteobl	bone
40	chr13:85220800-85221400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:85220800-85221400	Enhancers	Primary hematopoietic stem cells	blood
42	chr13:85220800-85221600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:85220800-85221600	Enhancers	Fetal Heart	heart
44	chr13:85220800-85221800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:85221000-85221200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr13:85221000-85221200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr13:85221000-85221200	Enhancers	Osteobl	bone
48	chr13:85221000-85221600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:85221000-85223200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:85221200-85221400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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