Variant report

Variant	nsv974256
Chromosome Location	chr13:95447783-95453092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 208 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148191361	chr13:95447863-95447864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543714753	chr13:95447883-95447884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376401443	chr13:95447949-95447950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560322125	chr13:95447958-95447959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532619816	chr13:95448013-95448014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141387470	chr13:95448028-95448029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61011682	chr13:95448061-95448062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111260963	chr13:95448062-95448063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3045468	chr13:95448071-95448072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138463044	chr13:95448073-95448074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397836524	chr13:95448079-95448080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58662561	chr13:95448082-95448083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75751621	chr13:95448084-95448085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397763184	chr13:95448085-95448086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187151415	chr13:95448090-95448091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369925047	chr13:95448095-95448096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531235350	chr13:95448102-95448103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547977833	chr13:95448125-95448126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146266104	chr13:95448166-95448167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533663188	chr13:95448184-95448185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553886811	chr13:95448201-95448202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570684111	chr13:95448211-95448212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191593471	chr13:95448287-95448288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556530477	chr13:95448318-95448319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138063804	chr13:95448321-95448322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544638191	chr13:95448336-95448337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554755560	chr13:95448365-95448366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374875567	chr13:95448369-95448370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574835993	chr13:95448384-95448385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35545958	chr13:95448639-95448640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35729038	chr13:95448640-95448641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398024017	chr13:95448659-95448660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397941483	chr13:95448662-95448663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531200582	chr13:95448707-95448708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548131589	chr13:95448738-95448739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561533428	chr13:95448742-95448743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184509654	chr13:95448795-95448796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142526954	chr13:95448805-95448806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146098723	chr13:95448835-95448836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539670314	chr13:95448844-95448845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550093576	chr13:95448863-95448864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188907379	chr13:95448877-95448878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55638742	chr13:95448878-95448879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376490022	chr13:95448924-95448925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574761053	chr13:95448929-95448930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9584254	chr13:95449039-95449040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553878025	chr13:95449041-95449042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577019302	chr13:95449056-95449057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546028979	chr13:95449079-95449080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564316963	chr13:95449146-95449147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Metanephric adenoma	20802469	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95447400-95448400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:95447800-95448200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:95448000-95448200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:95448600-95451200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:95450800-95451000	Enhancers	Colon Smooth Muscle	Colon
6	chr13:95450800-95451000	Active TSS	Stomach Smooth Muscle	stomach
7	chr13:95450800-95451200	Enhancers	Right Ventricle	heart
8	chr13:95451000-95451200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr13:95451000-95451400	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr13:95451200-95451400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:95451200-95451400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:95451200-95451600	Active TSS	Stomach Smooth Muscle	stomach
13	chr13:95451200-95451800	Enhancers	Fetal Lung	lung
14	chr13:95451200-95452600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:95451400-95451800	Enhancers	Rectal Smooth Muscle	rectum
16	chr13:95451400-95452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:95451400-95452200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:95451400-95452400	Enhancers	Colon Smooth Muscle	Colon
19	chr13:95451400-95452800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:95451600-95451800	Enhancers	Stomach Smooth Muscle	stomach
21	chr13:95451600-95453200	Enhancers	Adipose Nuclei	Adipose
22	chr13:95451800-95452400	Weak transcription	Fetal Lung	lung
23	chr13:95452000-95452600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:95452200-95452600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:95452400-95452600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:95452400-95452600	Enhancers	Fetal Lung	lung
27	chr13:95452400-95452800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:95452400-95453200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:95452600-95453400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:95452600-95453600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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