Variant report

Variant	esv2757539
Chromosome Location	chr13:67231505-67319982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
2	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:
3	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
4	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
5	chr13:67263755..67264355-chr13:67798086..67798947,2	MCF-7	breast:
6	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
7	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:

Extended variants
information (count: 2507 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2507 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9529114	chr13:67231505-67231506	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548076830	chr13:67231541-67231542	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs146638801	chr13:67231570-67231571	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189386201	chr13:67231678-67231679	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181406875	chr13:67231734-67231735	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs6562462	chr13:67231743-67231744	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535601344	chr13:67231752-67231753	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184317785	chr13:67231817-67231818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568128012	chr13:67231902-67231903	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188332309	chr13:67231915-67231916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs553603528	chr13:67231933-67231934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113204336	chr13:67231947-67231948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376985212	chr13:67231970-67231971	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs576736294	chr13:67231998-67231999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181807324	chr13:67232004-67232005	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs79448042	chr13:67232033-67232034	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186404831	chr13:67232064-67232065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs139788773	chr13:67232093-67232094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561838909	chr13:67232126-67232127	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572650990	chr13:67232131-67232132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541650712	chr13:67232153-67232154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564732066	chr13:67232163-67232164	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190953311	chr13:67232206-67232207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370253953	chr13:67232214-67232215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181530584	chr13:67232219-67232220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545878587	chr13:67232238-67232239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7318945	chr13:67232280-67232281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549179846	chr13:67232284-67232285	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs6562463	chr13:67232293-67232294	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs75575338	chr13:67232342-67232343	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs9540860	chr13:67232413-67232414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191009379	chr13:67232422-67232423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537844923	chr13:67232447-67232448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183423890	chr13:67232516-67232517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556110014	chr13:67232536-67232537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575915117	chr13:67232556-67232557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6562464	chr13:67232557-67232558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555125099	chr13:67232564-67232565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572183932	chr13:67232619-67232620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374236184	chr13:67232680-67232681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541636611	chr13:67232696-67232697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564695282	chr13:67232794-67232795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113045620	chr13:67232864-67232865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528755085	chr13:67232868-67232869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543721379	chr13:67232869-67232870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564030450	chr13:67233000-67233001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185234850	chr13:67233048-67233049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543016396	chr13:67233049-67233050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559410726	chr13:67233059-67233060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528610008	chr13:67233117-67233118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67229800-67231800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:67230000-67231800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:67230000-67232200	Enhancers	Brain Germinal Matrix	brain
4	chr13:67230000-67232400	Enhancers	Primary B cells from peripheral blood	blood
5	chr13:67230000-67233600	Enhancers	Hela-S3	cervix
6	chr13:67230200-67231800	Enhancers	Rectal Smooth Muscle	rectum
7	chr13:67230200-67232000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:67230200-67232000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:67230200-67232000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:67230200-67232000	Enhancers	Brain Substantia Nigra	brain
11	chr13:67230200-67232400	Enhancers	HUVEC	blood vessel
12	chr13:67230400-67232000	Enhancers	Primary B cells from cord blood	blood
13	chr13:67230400-67232000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:67230600-67231800	Active TSS	A549	lung
15	chr13:67230600-67233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:67230600-67237800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:67231000-67231600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr13:67231000-67231600	Enhancers	Fetal Muscle Leg	muscle
19	chr13:67231000-67231800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:67231000-67231800	Enhancers	Fetal Brain Male	brain
21	chr13:67231000-67232000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:67231000-67232000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:67231000-67232000	Enhancers	Brain Cingulate Gyrus	brain
24	chr13:67231000-67232000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr13:67231000-67232000	Enhancers	HMEC	breast
26	chr13:67231000-67232000	Enhancers	NHDF-Ad	bronchial
27	chr13:67231000-67232000	Enhancers	NHEK	skin
28	chr13:67231000-67232000	Enhancers	Osteobl	bone
29	chr13:67231000-67232200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:67231000-67232200	Enhancers	Colon Smooth Muscle	Colon
31	chr13:67231000-67232200	Enhancers	HSMM	muscle
32	chr13:67231000-67232200	Enhancers	NH-A	brain
33	chr13:67231000-67233800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr13:67231200-67231600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr13:67231200-67231600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:67231200-67231600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr13:67231200-67231800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:67231200-67231800	Enhancers	Fetal Brain Female	brain
39	chr13:67231200-67231800	Active TSS	Stomach Smooth Muscle	stomach
40	chr13:67231200-67232000	Enhancers	Brain Angular Gyrus	brain
41	chr13:67231200-67232200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:67231400-67231600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr13:67231400-67231800	Enhancers	Stomach Mucosa	stomach
44	chr13:67231400-67232000	Enhancers	Brain Hippocampus Middle	brain
45	chr13:67231600-67231800	Enhancers	HSMMtube	muscle
46	chr13:67231600-67232000	Enhancers	Brain Anterior Caudate	brain
47	chr13:67231600-67232000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr13:67231600-67232400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr13:67231600-67233600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr13:67231600-67233800	Weak transcription	Fetal Muscle Leg	muscle

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