Variant report

Variant	nsv826688
Chromosome Location	chr13:67229015-67318800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67263755..67264355-chr13:67798086..67798947,2	MCF-7	breast:
2	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
3	chr12:53194673..53195335-chr13:67228858..67229378,2	MCF-7	breast:
4	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:
5	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
6	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
7	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
8	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:

No data

Extended variants
information (count: 2547 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2547 , 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	rs554192718	chr13:67229227-67229228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577426698	chr13:67229440-67229441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182346135	chr13:67229494-67229495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565124494	chr13:67229538-67229539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556502151	chr13:67229539-67229540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544531852	chr13:67229615-67229616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147230538	chr13:67229634-67229635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187893464	chr13:67229690-67229691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138284080	chr13:67229692-67229693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545317778	chr13:67229728-67229729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200406781	chr13:67229731-67229732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372683218	chr13:67229734-67229735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531139326	chr13:67229739-67229740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114110046	chr13:67229843-67229844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559804584	chr13:67229908-67229909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532119567	chr13:67229950-67229951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192484233	chr13:67229988-67229989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185030241	chr13:67229989-67229990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143840718	chr13:67229998-67229999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375899782	chr13:67230043-67230044	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370174259	chr13:67230063-67230064	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528918475	chr13:67230111-67230112	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568662265	chr13:67230133-67230134	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs534157818	chr13:67230159-67230160	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554250385	chr13:67230163-67230164	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150634319	chr13:67230167-67230168	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs139794342	chr13:67230197-67230198	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs367566623	chr13:67230241-67230242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs575364966	chr13:67230281-67230282	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565787247	chr13:67230288-67230289	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554803987	chr13:67230323-67230324	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187474677	chr13:67230330-67230331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115380022	chr13:67230358-67230359	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs201323574	chr13:67230400-67230401	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559741761	chr13:67230401-67230402	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs532061038	chr13:67230473-67230474	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs147151012	chr13:67230486-67230487	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs371411301	chr13:67230511-67230512	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149387139	chr13:67230514-67230515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs571786433	chr13:67230603-67230604	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374941056	chr13:67230694-67230695	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533035103	chr13:67230747-67230748	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531885589	chr13:67230778-67230779	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs115659578	chr13:67230781-67230782	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs9564328	chr13:67230803-67230804	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs528021599	chr13:67230822-67230823	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs4622401	chr13:67230895-67230896	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575671445	chr13:67230914-67230915	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs539860625	chr13:67230999-67231000	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556668934	chr13:67231011-67231012	Enhancers Weak transcription Active TSS	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:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67229200-67230000	Enhancers	A549	lung
2	chr13:67229800-67231800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:67230000-67230200	Enhancers	Brain Angular Gyrus	brain
4	chr13:67230000-67230600	Flanking Active TSS	A549	lung
5	chr13:67230000-67231800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:67230000-67232200	Enhancers	Brain Germinal Matrix	brain
7	chr13:67230000-67232400	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:67230000-67233600	Enhancers	Hela-S3	cervix
9	chr13:67230200-67230600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr13:67230200-67231200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:67230200-67231200	Weak transcription	Brain Angular Gyrus	brain
12	chr13:67230200-67231200	Enhancers	Brain Hippocampus Middle	brain
13	chr13:67230200-67231200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr13:67230200-67231800	Enhancers	Rectal Smooth Muscle	rectum
15	chr13:67230200-67232000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:67230200-67232000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:67230200-67232000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:67230200-67232000	Enhancers	Brain Substantia Nigra	brain
19	chr13:67230200-67232400	Enhancers	HUVEC	blood vessel
20	chr13:67230400-67232000	Enhancers	Primary B cells from cord blood	blood
21	chr13:67230400-67232000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:67230600-67231800	Active TSS	A549	lung
23	chr13:67230600-67233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:67230600-67237800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:67231000-67231200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:67231000-67231400	Enhancers	Adipose Nuclei	Adipose
27	chr13:67231000-67231400	Enhancers	Brain Anterior Caudate	brain
28	chr13:67231000-67231600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr13:67231000-67231600	Enhancers	Fetal Muscle Leg	muscle
30	chr13:67231000-67231800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:67231000-67231800	Enhancers	Fetal Brain Male	brain
32	chr13:67231000-67232000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:67231000-67232000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:67231000-67232000	Enhancers	Brain Cingulate Gyrus	brain
35	chr13:67231000-67232000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr13:67231000-67232000	Enhancers	HMEC	breast
37	chr13:67231000-67232000	Enhancers	NHDF-Ad	bronchial
38	chr13:67231000-67232000	Enhancers	NHEK	skin
39	chr13:67231000-67232000	Enhancers	Osteobl	bone
40	chr13:67231000-67232200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:67231000-67232200	Enhancers	Colon Smooth Muscle	Colon
42	chr13:67231000-67232200	Enhancers	HSMM	muscle
43	chr13:67231000-67232200	Enhancers	NH-A	brain
44	chr13:67231000-67233800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:67231200-67231400	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr13:67231200-67231600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr13:67231200-67231600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:67231200-67231600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr13:67231200-67231800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:67231200-67231800	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links