Variant report

Variant	nsv983732
Chromosome Location	chr13:94361032-94373869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 498 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568094950	chr13:94361047-94361048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527952840	chr13:94361091-94361092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143026079	chr13:94361129-94361130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189861533	chr13:94361138-94361139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540032090	chr13:94361218-94361219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550147101	chr13:94361233-94361234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181058839	chr13:94361255-94361256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147778992	chr13:94361264-94361265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115378851	chr13:94361310-94361311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141425965	chr13:94361320-94361321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533811053	chr13:94361338-94361339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185921517	chr13:94361359-94361360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576924457	chr13:94361364-94361365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545971135	chr13:94361383-94361384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375726095	chr13:94361402-94361403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200580258	chr13:94361408-94361409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147001744	chr13:94361416-94361417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138219493	chr13:94361443-94361444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141711796	chr13:94361477-94361478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150150882	chr13:94361488-94361489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75934994	chr13:94361491-94361492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78541261	chr13:94361492-94361493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74519677	chr13:94361495-94361496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548068925	chr13:94361559-94361560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188824783	chr13:94361607-94361608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16949127	chr13:94361608-94361609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370358705	chr13:94361638-94361639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181460394	chr13:94361653-94361654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570908478	chr13:94361660-94361661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570189624	chr13:94361661-94361662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187612798	chr13:94361692-94361693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535233301	chr13:94361698-94361699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549087436	chr13:94361719-94361720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565692811	chr13:94361808-94361809	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534709194	chr13:94361815-94361816	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138800464	chr13:94361845-94361846	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191924035	chr13:94361963-94361964	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376726517	chr13:94361992-94361993	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183025892	chr13:94362002-94362003	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539384280	chr13:94362014-94362015	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201945462	chr13:94362052-94362053	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4359315	chr13:94362121-94362122	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185757970	chr13:94362221-94362222	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530381445	chr13:94362235-94362236	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374287002	chr13:94362239-94362240	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs541899243	chr13:94362252-94362253	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561774655	chr13:94362287-94362288	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs4619265	chr13:94362300-94362301	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs541022851	chr13:94362318-94362319	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs539118834	chr13:94362389-94362390	Weak transcription Enhancers Active TSS	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
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
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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94355200-94365800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94360400-94361400	Enhancers	Colon Smooth Muscle	Colon
3	chr13:94360600-94361200	Enhancers	Rectal Smooth Muscle	rectum
4	chr13:94360600-94361600	Enhancers	Fetal Lung	lung
5	chr13:94360600-94362400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:94360600-94362600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:94360800-94361800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:94360800-94362200	Enhancers	Osteobl	bone
9	chr13:94361000-94361600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:94361000-94361600	Enhancers	Fetal Kidney	kidney
11	chr13:94361000-94361800	Enhancers	NHDF-Ad	bronchial
12	chr13:94361000-94362200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:94361400-94361600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr13:94361400-94361800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:94361600-94362400	Enhancers	HSMM	muscle
16	chr13:94361800-94362200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:94361800-94362200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:94362200-94362400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:94362200-94362600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr13:94362200-94362800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:94362200-94363400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:94362600-94362800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr13:94362600-94363600	Weak transcription	Aorta	Aorta
24	chr13:94362800-94368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:94363400-94363600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:94363600-94364400	ZNF genes & repeats	Aorta	Aorta
27	chr13:94365800-94366000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr13:94365800-94367600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:94367200-94367400	Enhancers	HSMMtube	muscle
30	chr13:94367400-94372200	Weak transcription	HSMMtube	muscle
31	chr13:94368200-94368400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:94368200-94369400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:94368200-94369400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:94368400-94369200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr13:94369200-94369400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:94369400-94375400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr13:94373800-94374200	Enhancers	HSMM	muscle

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