Variant report

Variant	esv2530447
Chromosome Location	chr13:94066922-94068460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578210373	chr13:94066928-94066929	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs72640504	chr13:94066952-94066953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184212658	chr13:94067056-94067057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574081614	chr13:94067100-94067101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543185609	chr13:94067102-94067103	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs78319302	chr13:94067191-94067192	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187016720	chr13:94067193-94067194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546903990	chr13:94067206-94067207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1323989	chr13:94067260-94067261	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1323990	chr13:94067286-94067287	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533265243	chr13:94067356-94067357	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191041708	chr13:94067397-94067398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569355738	chr13:94067444-94067445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369523821	chr13:94067445-94067446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182467347	chr13:94067474-94067475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145153436	chr13:94067478-94067479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534388733	chr13:94067494-94067495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149139184	chr13:94067496-94067497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142454800	chr13:94067529-94067530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9524055	chr13:94067566-94067567	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187081602	chr13:94067567-94067568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537798601	chr13:94067574-94067575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375769909	chr13:94067646-94067647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532809903	chr13:94067690-94067691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147967495	chr13:94067710-94067711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574117543	chr13:94067717-94067718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543023212	chr13:94067744-94067745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72640505	chr13:94067779-94067780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191833507	chr13:94067791-94067792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141736032	chr13:94067802-94067803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529152511	chr13:94067812-94067813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147095885	chr13:94067853-94067854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532979027	chr13:94067882-94067883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182461355	chr13:94067893-94067894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563223282	chr13:94067912-94067913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372473055	chr13:94067942-94067943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528883839	chr13:94068002-94068003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4771875	chr13:94068036-94068037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73552622	chr13:94068051-94068052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113011569	chr13:94068059-94068060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547345813	chr13:94068084-94068085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61964165	chr13:94068103-94068104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565298767	chr13:94068104-94068105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528194718	chr13:94068208-94068209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74709424	chr13:94068242-94068243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2813612	chr13:94068257-94068258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566635218	chr13:94068273-94068274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28590511	chr13:94068318-94068319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557715840	chr13:94068350-94068351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567983557	chr13:94068399-94068400	Weak transcription	n/a	n/a	Overlapped CNVs	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94058600-94077600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94066200-94067000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:94066200-94067000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:94066200-94067000	Enhancers	Liver	Liver
5	chr13:94066200-94067400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:94066200-94067400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:94066200-94067400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:94066200-94067600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:94066200-94067800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:94066400-94067000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr13:94066400-94067000	Flanking Active TSS	NH-A	brain
12	chr13:94066400-94067200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:94066400-94067400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr13:94066400-94067400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr13:94066400-94067400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr13:94066400-94067400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:94066400-94067400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:94066400-94067600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:94066600-94067000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr13:94066600-94067000	Enhancers	Fetal Lung	lung
21	chr13:94066600-94067400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr13:94066800-94067000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:94066800-94067000	Enhancers	Brain Anterior Caudate	brain
24	chr13:94066800-94067000	Flanking Active TSS	Osteobl	bone
25	chr13:94066800-94067200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:94066800-94073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:94067000-94067200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr13:94067000-94067400	Enhancers	NH-A	brain
29	chr13:94067000-94067600	Enhancers	Osteobl	bone
30	chr13:94067000-94069800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:94067000-94071800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:94067000-94075400	Weak transcription	Fetal Lung	lung
33	chr13:94067200-94069000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:94067200-94069000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr13:94067200-94071600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr13:94067400-94068800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:94067400-94069000	Weak transcription	NH-A	brain
38	chr13:94067400-94071200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr13:94067400-94071400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:94067400-94071400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr13:94067400-94071600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr13:94067400-94071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr13:94067400-94071800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr13:94067400-94071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr13:94067600-94068800	Weak transcription	Osteobl	bone
46	chr13:94067600-94071600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr13:94067600-94071800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:94067600-94072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:94067800-94071200	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links