Variant report

Variant	nsv562132
Chromosome Location	chr13:67220803-67256279
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: 1055 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs964381	chr13:67220803-67220804	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145262761	chr13:67220891-67220892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550929325	chr13:67220924-67220925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368664611	chr13:67220925-67220926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186078678	chr13:67220993-67220994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs137902350	chr13:67221038-67221039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546579905	chr13:67221039-67221040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115293323	chr13:67221058-67221059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564537926	chr13:67221070-67221071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552455387	chr13:67221077-67221078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372645375	chr13:67221093-67221094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377268618	chr13:67221138-67221139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140882709	chr13:67221219-67221220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538771519	chr13:67221230-67221231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144722264	chr13:67221237-67221238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148244487	chr13:67221240-67221241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538062069	chr13:67221275-67221276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78874297	chr13:67221286-67221287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574793220	chr13:67221321-67221322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35647495	chr13:67221333-67221334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532651984	chr13:67221334-67221335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55961043	chr13:67221339-67221340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78643921	chr13:67221376-67221377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9540851	chr13:67221401-67221402	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546309810	chr13:67221423-67221424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565061980	chr13:67221495-67221496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150785329	chr13:67221527-67221528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111586045	chr13:67221533-67221534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9540852	chr13:67221543-67221544	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34927560	chr13:67221561-67221562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530013134	chr13:67221595-67221596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546274703	chr13:67221599-67221600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559516607	chr13:67221620-67221621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190898973	chr13:67221644-67221645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551821174	chr13:67221674-67221675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77868455	chr13:67221698-67221699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552468589	chr13:67221763-67221764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9529110	chr13:67221767-67221768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34895591	chr13:67221787-67221788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73497715	chr13:67221801-67221802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116337646	chr13:67221813-67221814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568648150	chr13:67221869-67221870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373076222	chr13:67221870-67221871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372379956	chr13:67221912-67221913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534558187	chr13:67221955-67221956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142963033	chr13:67221973-67221974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34265599	chr13:67221981-67221982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113788493	chr13:67221987-67221988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551805692	chr13:67221998-67221999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570303232	chr13:67222078-67222079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67215800-67221200	Weak transcription	Brain Substantia Nigra	brain
2	chr13:67219400-67221000	Weak transcription	Brain Hippocampus Middle	brain
3	chr13:67219600-67221400	Enhancers	Primary B cells from cord blood	blood
4	chr13:67220200-67221000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr13:67221000-67221200	Enhancers	Brain Hippocampus Middle	brain
6	chr13:67221000-67221200	Enhancers	Left Ventricle	heart
7	chr13:67221000-67221400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr13:67221000-67221600	Enhancers	Primary B cells from peripheral blood	blood
9	chr13:67221200-67222600	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:67221200-67222600	Enhancers	Brain Substantia Nigra	brain
11	chr13:67221200-67222600	Weak transcription	Left Ventricle	heart
12	chr13:67222600-67222800	Enhancers	Brain Hippocampus Middle	brain
13	chr13:67229200-67230000	Enhancers	A549	lung
14	chr13:67229800-67231800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:67230000-67230200	Enhancers	Brain Angular Gyrus	brain
16	chr13:67230000-67230600	Flanking Active TSS	A549	lung
17	chr13:67230000-67231800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:67230000-67232200	Enhancers	Brain Germinal Matrix	brain
19	chr13:67230000-67232400	Enhancers	Primary B cells from peripheral blood	blood
20	chr13:67230000-67233600	Enhancers	Hela-S3	cervix
21	chr13:67230200-67230600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:67230200-67231200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:67230200-67231200	Weak transcription	Brain Angular Gyrus	brain
24	chr13:67230200-67231200	Enhancers	Brain Hippocampus Middle	brain
25	chr13:67230200-67231200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr13:67230200-67231800	Enhancers	Rectal Smooth Muscle	rectum
27	chr13:67230200-67232000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:67230200-67232000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:67230200-67232000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:67230200-67232000	Enhancers	Brain Substantia Nigra	brain
31	chr13:67230200-67232400	Enhancers	HUVEC	blood vessel
32	chr13:67230400-67232000	Enhancers	Primary B cells from cord blood	blood
33	chr13:67230400-67232000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:67230600-67231800	Active TSS	A549	lung
35	chr13:67230600-67233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:67230600-67237800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:67231000-67231200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:67231000-67231400	Enhancers	Adipose Nuclei	Adipose
39	chr13:67231000-67231400	Enhancers	Brain Anterior Caudate	brain
40	chr13:67231000-67231600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr13:67231000-67231600	Enhancers	Fetal Muscle Leg	muscle
42	chr13:67231000-67231800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:67231000-67231800	Enhancers	Fetal Brain Male	brain
44	chr13:67231000-67232000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:67231000-67232000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:67231000-67232000	Enhancers	Brain Cingulate Gyrus	brain
47	chr13:67231000-67232000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr13:67231000-67232000	Enhancers	HMEC	breast
49	chr13:67231000-67232000	Enhancers	NHDF-Ad	bronchial
50	chr13:67231000-67232000	Enhancers	NHEK	skin

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