Variant report

Variant	esv1814970
Chromosome Location	chr13:95044248-95047256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7999264	chr13:95044275-95044276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535928737	chr13:95044285-95044286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574155132	chr13:95044294-95044295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543282241	chr13:95044377-95044378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74850798	chr13:95044412-95044413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553522274	chr13:95044437-95044438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7981994	chr13:95044472-95044473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7997297	chr13:95044476-95044477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186849336	chr13:95044519-95044520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575665714	chr13:95044532-95044533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114296294	chr13:95044547-95044548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554094846	chr13:95044556-95044557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563569362	chr13:95044616-95044617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2389093	chr13:95044620-95044621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559156860	chr13:95044657-95044658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369975287	chr13:95044670-95044671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59173357	chr13:95044685-95044686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74874988	chr13:95044687-95044688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6492703	chr13:95044704-95044705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2389094	chr13:95044731-95044732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2389095	chr13:95044746-95044747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547738921	chr13:95044769-95044770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530480704	chr13:95044812-95044813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67278508	chr13:95044886-95044887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551014250	chr13:95044894-95044895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567916362	chr13:95045041-95045042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536482777	chr13:95045049-95045050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201621336	chr13:95045172-95045173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73553845	chr13:95045196-95045197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540693075	chr13:95045225-95045226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9561549	chr13:95045266-95045267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539141916	chr13:95045312-95045313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75739440	chr13:95045313-95045314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575569925	chr13:95045345-95045346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73553848	chr13:95045378-95045379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557007036	chr13:95045387-95045388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547182255	chr13:95045421-95045422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143704974	chr13:95045472-95045473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9561550	chr13:95045479-95045480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2389096	chr13:95045494-95045495	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs74103913	chr13:95045497-95045498	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190648737	chr13:95045571-95045572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564610725	chr13:95045584-95045585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183410392	chr13:95045655-95045656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75401416	chr13:95045682-95045683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550537822	chr13:95045717-95045718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567894991	chr13:95045736-95045737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2389097	chr13:95045751-95045752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11842840	chr13:95045772-95045773	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139264620	chr13:95045825-95045826	Weak transcription Enhancers Strong 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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95030000-95050000	Weak transcription	Ovary	ovary
2	chr13:95033800-95055400	Weak transcription	HSMMtube	muscle
3	chr13:95034800-95050000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:95034800-95052800	Weak transcription	Fetal Stomach	stomach
5	chr13:95035600-95054800	Weak transcription	Fetal Intestine Small	intestine
6	chr13:95038600-95051000	Weak transcription	Liver	Liver
7	chr13:95040200-95059200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:95041200-95049800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:95042200-95045600	Weak transcription	Fetal Heart	heart
10	chr13:95042400-95046600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:95042400-95059000	Weak transcription	Aorta	Aorta
12	chr13:95043200-95046600	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:95043200-95051600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:95043200-95057200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:95043600-95057400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:95044200-95045400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:95045400-95045800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:95045400-95046800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:95045600-95047200	Enhancers	Fetal Heart	heart
20	chr13:95045800-95046000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:95046000-95053000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:95046600-95049000	Enhancers	Rectal Smooth Muscle	rectum
23	chr13:95046600-95049200	Enhancers	Colon Smooth Muscle	Colon
24	chr13:95046800-95065000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:95047000-95047400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:95047200-95047400	Enhancers	Left Ventricle	heart
27	chr13:95047200-95048200	Flanking Active TSS	Fetal Heart	heart

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