Variant report

Variant	nsv1052224
Chromosome Location	chr13:89678943-89727015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 366 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:366 , 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	rs550266365	chr13:89681025-89681026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368435650	chr13:89681033-89681034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564964733	chr13:89681071-89681072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535886987	chr13:89681092-89681093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145217904	chr13:89681097-89681098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566623550	chr13:89681114-89681115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575255785	chr13:89681141-89681142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534107849	chr13:89681165-89681166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544262645	chr13:89681166-89681167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186096755	chr13:89681167-89681168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190766403	chr13:89681206-89681207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183423036	chr13:89681244-89681245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186190699	chr13:89681260-89681261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10444609	chr13:89681270-89681271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190602254	chr13:89681278-89681279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575692166	chr13:89681289-89681290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543072109	chr13:89681292-89681293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561357004	chr13:89681293-89681294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549884104	chr13:89681295-89681296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555035531	chr13:89681351-89681352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182952223	chr13:89681483-89681484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540931183	chr13:89681484-89681485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371870023	chr13:89681520-89681521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375496805	chr13:89681570-89681571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188227658	chr13:89681584-89681585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550253939	chr13:89681602-89681603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562279815	chr13:89681605-89681606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529759182	chr13:89681618-89681619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547840941	chr13:89681681-89681682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566469572	chr13:89681749-89681750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2348216	chr13:89681782-89681783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552491464	chr13:89681816-89681817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372637760	chr13:89681817-89681818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148743604	chr13:89681833-89681834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557467419	chr13:89681855-89681856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575781055	chr13:89681904-89681905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551375658	chr13:89681936-89681937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142301488	chr13:89681940-89681941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112239384	chr13:89681977-89681978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192925089	chr13:89682014-89682015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182997419	chr13:89682057-89682058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540569977	chr13:89682063-89682064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188036517	chr13:89682110-89682111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577009031	chr13:89682111-89682112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146819545	chr13:89682165-89682166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191373152	chr13:89682225-89682226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34390272	chr13:89682264-89682265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375717003	chr13:89682294-89682295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374047155	chr13:89682307-89682308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562756152	chr13:89682317-89682318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
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
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89681000-89681800	Enhancers	Dnd41	blood
2	chr13:89681800-89682800	Weak transcription	Dnd41	blood
3	chr13:89682800-89683000	Enhancers	Dnd41	blood
4	chr13:89708600-89709000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:89709000-89709400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:89709000-89709400	Enhancers	Brain Cingulate Gyrus	brain
7	chr13:89709200-89709400	Enhancers	Brain Hippocampus Middle	brain
8	chr13:89709400-89710600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:89709400-89710600	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:89710600-89711600	Enhancers	Brain Hippocampus Middle	brain
11	chr13:89714200-89714600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:89714200-89714600	Enhancers	Gastric	stomach
13	chr13:89714200-89714600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr13:89714200-89714800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:89714400-89714800	Enhancers	HepG2	liver
16	chr13:89714600-89719400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr13:89719000-89719400	Enhancers	Primary hematopoietic stem cells	blood
18	chr13:89719000-89719400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:89719200-89719600	Enhancers	Fetal Kidney	kidney
20	chr13:89719400-89719600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:89719400-89719600	Enhancers	Fetal Lung	lung
22	chr13:89719400-89719800	Enhancers	Rectal Mucosa Donor 31	rectum

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