Variant report

Variant	nsv1048843
Chromosome Location	chr13:94064931-94103524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1582 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1582 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185536665	chr13:94064946-94064947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568388615	chr13:94065018-94065019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534049144	chr13:94065022-94065023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529914624	chr13:94065028-94065029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578086302	chr13:94065036-94065037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs118097488	chr13:94065058-94065059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12585851	chr13:94065066-94065067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4773745	chr13:94065091-94065092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113437875	chr13:94065133-94065134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142686098	chr13:94065149-94065150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374135042	chr13:94065162-94065163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2762088	chr13:94065186-94065187	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs144428002	chr13:94065235-94065236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189611124	chr13:94065260-94065261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561917817	chr13:94065336-94065337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75714494	chr13:94065373-94065374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147986168	chr13:94065423-94065424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141767013	chr13:94065436-94065437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73552617	chr13:94065454-94065455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550046269	chr13:94065469-94065470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570118330	chr13:94065473-94065474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150590228	chr13:94065503-94065504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548422058	chr13:94065580-94065581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58059115	chr13:94065599-94065600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139918525	chr13:94065617-94065618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143412664	chr13:94065624-94065625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114165786	chr13:94065693-94065694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180699458	chr13:94065696-94065697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34879469	chr13:94065718-94065719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117785179	chr13:94065755-94065756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539404573	chr13:94065783-94065784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370842468	chr13:94065791-94065792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377573975	chr13:94065810-94065811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78359740	chr13:94065811-94065812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200455615	chr13:94065825-94065826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72639102	chr13:94065826-94065827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374492697	chr13:94065902-94065903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572911499	chr13:94065991-94065992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575753320	chr13:94066090-94066091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572706149	chr13:94066109-94066110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537406996	chr13:94066127-94066128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7998751	chr13:94066180-94066181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372039841	chr13:94066260-94066261	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555549595	chr13:94066263-94066264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186554139	chr13:94066319-94066320	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs368900310	chr13:94066354-94066355	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs146325998	chr13:94066403-94066404	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs77099082	chr13:94066413-94066414	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188566333	chr13:94066508-94066509	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12585468	chr13:94066532-94066533	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21987784	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
Breast cancer	22522925	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94057600-94066400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:94058600-94077600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94063600-94066600	Weak transcription	Aorta	Aorta
4	chr13:94065000-94065200	Enhancers	Liver	Liver
5	chr13:94065200-94066200	Weak transcription	Liver	Liver
6	chr13:94066200-94066400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:94066200-94066400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:94066200-94066400	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr13:94066200-94066400	Enhancers	NH-A	brain
10	chr13:94066200-94066600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr13:94066200-94067000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:94066200-94067000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:94066200-94067000	Enhancers	Liver	Liver
14	chr13:94066200-94067400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:94066200-94067400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:94066200-94067400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:94066200-94067600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:94066200-94067800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:94066400-94066600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:94066400-94066600	Active TSS	Brain Anterior Caudate	brain
21	chr13:94066400-94066600	Flanking Active TSS	Osteobl	bone
22	chr13:94066400-94066800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:94066400-94066800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:94066400-94067000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr13:94066400-94067000	Flanking Active TSS	NH-A	brain
26	chr13:94066400-94067200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr13:94066400-94067400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr13:94066400-94067400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:94066400-94067400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:94066400-94067400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:94066400-94067400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:94066400-94067600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:94066600-94066800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:94066600-94066800	Enhancers	Aorta	Aorta
35	chr13:94066600-94066800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr13:94066600-94066800	Active TSS	Osteobl	bone
37	chr13:94066600-94067000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr13:94066600-94067000	Enhancers	Fetal Lung	lung
39	chr13:94066600-94067400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr13:94066800-94067000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:94066800-94067000	Enhancers	Brain Anterior Caudate	brain
42	chr13:94066800-94067000	Flanking Active TSS	Osteobl	bone
43	chr13:94066800-94067200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:94066800-94073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:94067000-94067200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr13:94067000-94067400	Enhancers	NH-A	brain
47	chr13:94067000-94067600	Enhancers	Osteobl	bone
48	chr13:94067000-94069800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:94067000-94071800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:94067000-94075400	Weak transcription	Fetal Lung	lung

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