Variant report

Variant	nsv1038684
Chromosome Location	chr13:67276493-67342210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
2	chr13:67321108..67323350-chr13:67324882..67327027,2	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	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:

Extended variants
information (count: 1212 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567209400	chr13:67276516-67276517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113633263	chr13:67276533-67276534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180930350	chr13:67276563-67276564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370410463	chr13:67276571-67276572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60178567	chr13:67276589-67276590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539321284	chr13:67276594-67276595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138990404	chr13:67276610-67276611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143000262	chr13:67276615-67276616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538285469	chr13:67276619-67276620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187269851	chr13:67276657-67276658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555405560	chr13:67276692-67276693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191984768	chr13:67276696-67276697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147475307	chr13:67276714-67276715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74713538	chr13:67276717-67276718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573030021	chr13:67276727-67276728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544898243	chr13:67276739-67276740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541219816	chr13:67276795-67276796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12860631	chr13:67276845-67276846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9540871	chr13:67276868-67276869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560957549	chr13:67276890-67276891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545843942	chr13:67276899-67276900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529718029	chr13:67276949-67276950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546706826	chr13:67277007-67277008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372939433	chr13:67277021-67277022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139314877	chr13:67277032-67277033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376163374	chr13:67277059-67277060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183501848	chr13:67277108-67277109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552897415	chr13:67277114-67277115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187519214	chr13:67277197-67277198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538541009	chr13:67277219-67277220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149597464	chr13:67277234-67277235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190085637	chr13:67277238-67277239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534020623	chr13:67277262-67277263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554286871	chr13:67277289-67277290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182625037	chr13:67277319-67277320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115810847	chr13:67277339-67277340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5804290	chr13:67277367-67277368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs398023175	chr13:67277368-67277369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564741099	chr13:67277380-67277381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186598213	chr13:67277391-67277392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544113208	chr13:67277418-67277419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369566007	chr13:67277429-67277430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529719008	chr13:67277436-67277437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192585760	chr13:67277510-67277511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184434839	chr13:67277511-67277512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532256629	chr13:67277608-67277609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs927567	chr13:67277687-67277688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs927568	chr13:67277707-67277708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537556393	chr13:67277715-67277716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78519876	chr13:67277717-67277718	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
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67274800-67276600	Weak transcription	Brain Substantia Nigra	brain
2	chr13:67275600-67286000	Weak transcription	Brain Hippocampus Middle	brain
3	chr13:67275800-67280000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:67276600-67276800	Enhancers	Brain Substantia Nigra	brain
5	chr13:67276800-67277200	Weak transcription	Brain Substantia Nigra	brain
6	chr13:67277200-67277600	Enhancers	Brain Substantia Nigra	brain
7	chr13:67280000-67280200	Enhancers	Brain Cingulate Gyrus	brain
8	chr13:67280200-67280600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:67281400-67282000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr13:67282000-67289000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:67286000-67286200	Enhancers	Brain Hippocampus Middle	brain
12	chr13:67289000-67290800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr13:67290400-67291000	Enhancers	A549	lung
14	chr13:67290400-67291200	Enhancers	Liver	Liver
15	chr13:67293600-67294200	Enhancers	Primary B cells from peripheral blood	blood
16	chr13:67296000-67296200	Enhancers	Brain Cingulate Gyrus	brain
17	chr13:67296000-67296400	Enhancers	Brain Angular Gyrus	brain
18	chr13:67296000-67296600	Enhancers	Brain Substantia Nigra	brain
19	chr13:67296200-67296400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:67296200-67298200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr13:67296400-67298000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:67296400-67303600	Weak transcription	Brain Angular Gyrus	brain
23	chr13:67296600-67296800	Enhancers	Brain Hippocampus Middle	brain
24	chr13:67296600-67297600	Weak transcription	Brain Substantia Nigra	brain
25	chr13:67296800-67297400	Weak transcription	Brain Hippocampus Middle	brain
26	chr13:67297200-67298200	Enhancers	Brain Germinal Matrix	brain
27	chr13:67297200-67298600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:67297200-67298600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr13:67297200-67298800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:67297400-67298600	Enhancers	Brain Hippocampus Middle	brain
31	chr13:67297400-67298800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:67297600-67299000	Enhancers	Brain Substantia Nigra	brain
33	chr13:67298000-67298200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr13:67298200-67298800	Enhancers	Brain Anterior Caudate	brain
35	chr13:67298200-67298800	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:67298200-67300800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr13:67298600-67298800	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:67298600-67300400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:67298600-67300400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr13:67298800-67300200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:67298800-67300400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr13:67299000-67300200	Weak transcription	Brain Substantia Nigra	brain
43	chr13:67300200-67300800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:67300400-67300600	Enhancers	Brain Substantia Nigra	brain
45	chr13:67300400-67300800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:67300400-67301000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr13:67300400-67301000	Enhancers	Brain Cingulate Gyrus	brain
48	chr13:67300600-67300800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:67300600-67300800	Enhancers	Brain Hippocampus Middle	brain
50	chr13:67300800-67301200	Enhancers	Brain Inferior Temporal Lobe	brain

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