Variant report

Variant	esv3392011
Chromosome Location	chr13:67219000-67238075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:53194673..53195335-chr13:67228858..67229378,2	MCF-7	breast:

Extended variants
information (count: 405 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571537796	chr13:67219045-67219046	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17496087	chr13:67219064-67219065	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557007829	chr13:67219078-67219079	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181480490	chr13:67219155-67219156	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536402184	chr13:67219192-67219193	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370298378	chr13:67219301-67219302	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571467131	chr13:67219340-67219341	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543001928	chr13:67219342-67219343	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112429776	chr13:67219391-67219392	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186169845	chr13:67219431-67219432	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188484297	chr13:67219443-67219444	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73198509	chr13:67219528-67219529	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77775414	chr13:67219550-67219551	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371968948	chr13:67219581-67219582	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560993229	chr13:67219674-67219675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558553192	chr13:67219750-67219751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34894862	chr13:67219773-67219774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546810323	chr13:67219818-67219819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78171502	chr13:67219878-67219879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141068447	chr13:67219896-67219897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551554560	chr13:67219922-67219923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565158565	chr13:67219944-67219945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530869272	chr13:67219959-67219960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550594756	chr13:67219982-67219983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567300643	chr13:67219992-67219993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35768687	chr13:67220044-67220045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570338944	chr13:67220159-67220160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552759784	chr13:67220174-67220175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9564326	chr13:67220179-67220180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149848631	chr13:67220186-67220187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532529281	chr13:67220219-67220220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9564327	chr13:67220253-67220254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538811532	chr13:67220289-67220290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74095617	chr13:67220420-67220421	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117573991	chr13:67220437-67220438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181301428	chr13:67220458-67220459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377355258	chr13:67220463-67220464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554527463	chr13:67220488-67220489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574455692	chr13:67220545-67220546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112557627	chr13:67220607-67220608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560335901	chr13:67220661-67220662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532646475	chr13:67220765-67220766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111984770	chr13:67220800-67220801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs964381	chr13:67220803-67220804	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145262761	chr13:67220891-67220892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550929325	chr13:67220924-67220925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368664611	chr13:67220925-67220926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186078678	chr13:67220993-67220994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137902350	chr13:67221038-67221039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546579905	chr13:67221039-67221040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67214200-67219000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr13:67215800-67221200	Weak transcription	Brain Substantia Nigra	brain
3	chr13:67218800-67219000	Active TSS	Primary B cells from cord blood	blood
4	chr13:67218800-67219200	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:67219000-67219200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr13:67219000-67220200	Enhancers	Primary B cells from peripheral blood	blood
7	chr13:67219200-67219400	Active TSS	Primary B cells from cord blood	blood
8	chr13:67219200-67219400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr13:67219200-67219400	Enhancers	Brain Hippocampus Middle	brain
10	chr13:67219400-67219600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr13:67219400-67221000	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:67219600-67221400	Enhancers	Primary B cells from cord blood	blood
13	chr13:67220200-67221000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr13:67221000-67221200	Enhancers	Brain Hippocampus Middle	brain
15	chr13:67221000-67221200	Enhancers	Left Ventricle	heart
16	chr13:67221000-67221400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr13:67221000-67221600	Enhancers	Primary B cells from peripheral blood	blood
18	chr13:67221200-67222600	Weak transcription	Brain Hippocampus Middle	brain
19	chr13:67221200-67222600	Enhancers	Brain Substantia Nigra	brain
20	chr13:67221200-67222600	Weak transcription	Left Ventricle	heart
21	chr13:67222600-67222800	Enhancers	Brain Hippocampus Middle	brain
22	chr13:67229200-67230000	Enhancers	A549	lung
23	chr13:67229800-67231800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr13:67230000-67230200	Enhancers	Brain Angular Gyrus	brain
25	chr13:67230000-67230600	Flanking Active TSS	A549	lung
26	chr13:67230000-67231800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:67230000-67232200	Enhancers	Brain Germinal Matrix	brain
28	chr13:67230000-67232400	Enhancers	Primary B cells from peripheral blood	blood
29	chr13:67230000-67233600	Enhancers	Hela-S3	cervix
30	chr13:67230200-67230600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:67230200-67231200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:67230200-67231200	Weak transcription	Brain Angular Gyrus	brain
33	chr13:67230200-67231200	Enhancers	Brain Hippocampus Middle	brain
34	chr13:67230200-67231200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr13:67230200-67231800	Enhancers	Rectal Smooth Muscle	rectum
36	chr13:67230200-67232000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:67230200-67232000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:67230200-67232000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:67230200-67232000	Enhancers	Brain Substantia Nigra	brain
40	chr13:67230200-67232400	Enhancers	HUVEC	blood vessel
41	chr13:67230400-67232000	Enhancers	Primary B cells from cord blood	blood
42	chr13:67230400-67232000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:67230600-67231800	Active TSS	A549	lung
44	chr13:67230600-67233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:67230600-67237800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:67231000-67231200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:67231000-67231400	Enhancers	Adipose Nuclei	Adipose
48	chr13:67231000-67231400	Enhancers	Brain Anterior Caudate	brain
49	chr13:67231000-67231600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr13:67231000-67231600	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links