Variant report

Variant	esv1827645
Chromosome Location	chr13:38069694-38085491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 303 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550708121	chr13:38069737-38069738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79752954	chr13:38069745-38069746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547065219	chr13:38069768-38069769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530191228	chr13:38069796-38069797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9547908	chr13:38069809-38069810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147353069	chr13:38069817-38069818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139423614	chr13:38069847-38069848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372996136	chr13:38069848-38069849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190429119	chr13:38069890-38069891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9547909	chr13:38069917-38069918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145146297	chr13:38069924-38069925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147175138	chr13:38069929-38069930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112987180	chr13:38069936-38069937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140379077	chr13:38069938-38069939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536426779	chr13:38069964-38069965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187046780	chr13:38069979-38069980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9547910	chr13:38069999-38070000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538510509	chr13:38070015-38070016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7984526	chr13:38070044-38070045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565279612	chr13:38070084-38070085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7999882	chr13:38070090-38070091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145339466	chr13:38070126-38070127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372471188	chr13:38070130-38070131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189942704	chr13:38070144-38070145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530162035	chr13:38070180-38070181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8000201	chr13:38070215-38070216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182628511	chr13:38070230-38070231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552545877	chr13:38070280-38070281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377091301	chr13:38070309-38070310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142434049	chr13:38070313-38070314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201085508	chr13:38070321-38070322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11306887	chr13:38070326-38070327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398077200	chr13:38070327-38070328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs398037492	chr13:38070328-38070329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537007471	chr13:38070331-38070332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578096619	chr13:38070356-38070357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550613927	chr13:38070361-38070362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188821988	chr13:38070364-38070365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536000148	chr13:38070400-38070401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561423938	chr13:38070451-38070452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553124827	chr13:38070469-38070470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376938856	chr13:38070514-38070515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73448578	chr13:38070516-38070517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113714033	chr13:38070519-38070520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550038784	chr13:38070521-38070522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4941870	chr13:38070549-38070550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs73448579	chr13:38070576-38070577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs4941871	chr13:38070624-38070625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569764034	chr13:38070639-38070640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140477105	chr13:38070650-38070651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38061400-38070000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:38065800-38069800	Enhancers	Osteobl	bone
3	chr13:38066200-38070000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:38067200-38070000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:38068400-38069800	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:38069000-38070000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:38069000-38070000	Enhancers	HSMMtube	muscle
8	chr13:38069000-38070800	Enhancers	Hela-S3	cervix
9	chr13:38069200-38069800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:38069200-38069800	Enhancers	HSMM	muscle
11	chr13:38069200-38070000	Enhancers	HMEC	breast
12	chr13:38069200-38070000	Enhancers	NHDF-Ad	bronchial
13	chr13:38069400-38069800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:38069400-38069800	Enhancers	NHEK	skin
15	chr13:38069600-38073800	Weak transcription	NHLF	lung
16	chr13:38069800-38070400	Enhancers	Fetal Muscle Leg	muscle
17	chr13:38069800-38073200	Weak transcription	Osteobl	bone
18	chr13:38069800-38075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:38070000-38073600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:38070000-38075000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:38073200-38074200	Enhancers	Osteobl	bone
22	chr13:38073600-38074400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:38074200-38076200	Weak transcription	Osteobl	bone
24	chr13:38075000-38076400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:38075200-38075400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:38075600-38075800	Enhancers	NHLF	lung
27	chr13:38076200-38076400	Enhancers	Osteobl	bone
28	chr13:38077400-38077800	Enhancers	Fetal Heart	heart
29	chr13:38079600-38080000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:38083800-38084000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:38083800-38084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr13:38083800-38084400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr13:38083800-38084400	Enhancers	Osteobl	bone
34	chr13:38083800-38085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:38083800-38085800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:38084000-38084200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:38084000-38084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:38084000-38084200	Flanking Active TSS	NHEK	skin
39	chr13:38084000-38084600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:38084200-38084400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:38084200-38084400	Active TSS	NHEK	skin
42	chr13:38084200-38084600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:38084200-38084600	Enhancers	HMEC	breast
44	chr13:38084400-38084600	Flanking Active TSS	NHEK	skin
45	chr13:38084400-38088600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:38084600-38085600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:38084600-38085600	Enhancers	NHEK	skin
48	chr13:38085200-38085400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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