Variant report

Variant	nsv562134
Chromosome Location	chr13:67278295-67319725
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	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
3	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:

Extended variants
information (count: 772 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10492475	chr13:67278295-67278296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193106212	chr13:67278359-67278360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547738816	chr13:67278362-67278363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78964416	chr13:67278369-67278370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114986773	chr13:67278425-67278426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184525662	chr13:67278430-67278431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111245904	chr13:67278469-67278470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189183538	chr13:67278485-67278486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541089941	chr13:67278501-67278502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574628820	chr13:67278529-67278530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181207992	chr13:67278546-67278547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113842043	chr13:67278612-67278613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574041366	chr13:67278650-67278651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564162436	chr13:67278657-67278658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115434931	chr13:67278673-67278674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545895092	chr13:67278732-67278733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184036759	chr13:67278761-67278762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531313894	chr13:67278917-67278918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542359687	chr13:67278932-67278933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562163314	chr13:67278965-67278966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535270219	chr13:67278974-67278975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188772140	chr13:67279049-67279050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112840210	chr13:67279056-67279057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376075836	chr13:67279058-67279059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564116944	chr13:67279081-67279082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150940999	chr13:67279108-67279109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202213411	chr13:67279112-67279113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549851933	chr13:67279124-67279125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569774801	chr13:67279126-67279127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371755039	chr13:67279133-67279134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535581321	chr13:67279167-67279168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376980095	chr13:67279179-67279180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533110284	chr13:67279235-67279236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9529122	chr13:67279240-67279241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs199782749	chr13:67279297-67279298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554138249	chr13:67279315-67279316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576905865	chr13:67279397-67279398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539397316	chr13:67279430-67279431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111298188	chr13:67279457-67279458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180694848	chr13:67279465-67279466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541573009	chr13:67279490-67279491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186005011	chr13:67279500-67279501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111476598	chr13:67279507-67279508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541321280	chr13:67279518-67279519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150126975	chr13:67279522-67279523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576113444	chr13:67279612-67279613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75223231	chr13:67279667-67279668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369087834	chr13:67279683-67279684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549718475	chr13:67279761-67279762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563555612	chr13:67279764-67279765	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67275600-67286000	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:67275800-67280000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:67280000-67280200	Enhancers	Brain Cingulate Gyrus	brain
4	chr13:67280200-67280600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:67281400-67282000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr13:67282000-67289000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:67286000-67286200	Enhancers	Brain Hippocampus Middle	brain
8	chr13:67289000-67290800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr13:67290400-67291000	Enhancers	A549	lung
10	chr13:67290400-67291200	Enhancers	Liver	Liver
11	chr13:67293600-67294200	Enhancers	Primary B cells from peripheral blood	blood
12	chr13:67296000-67296200	Enhancers	Brain Cingulate Gyrus	brain
13	chr13:67296000-67296400	Enhancers	Brain Angular Gyrus	brain
14	chr13:67296000-67296600	Enhancers	Brain Substantia Nigra	brain
15	chr13:67296200-67296400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr13:67296200-67298200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:67296400-67298000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr13:67296400-67303600	Weak transcription	Brain Angular Gyrus	brain
19	chr13:67296600-67296800	Enhancers	Brain Hippocampus Middle	brain
20	chr13:67296600-67297600	Weak transcription	Brain Substantia Nigra	brain
21	chr13:67296800-67297400	Weak transcription	Brain Hippocampus Middle	brain
22	chr13:67297200-67298200	Enhancers	Brain Germinal Matrix	brain
23	chr13:67297200-67298600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:67297200-67298600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:67297200-67298800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:67297400-67298600	Enhancers	Brain Hippocampus Middle	brain
27	chr13:67297400-67298800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:67297600-67299000	Enhancers	Brain Substantia Nigra	brain
29	chr13:67298000-67298200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr13:67298200-67298800	Enhancers	Brain Anterior Caudate	brain
31	chr13:67298200-67298800	Enhancers	Brain Cingulate Gyrus	brain
32	chr13:67298200-67300800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr13:67298600-67298800	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:67298600-67300400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:67298600-67300400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:67298800-67300200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:67298800-67300400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:67299000-67300200	Weak transcription	Brain Substantia Nigra	brain
39	chr13:67300200-67300800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:67300400-67300600	Enhancers	Brain Substantia Nigra	brain
41	chr13:67300400-67300800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:67300400-67301000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:67300400-67301000	Enhancers	Brain Cingulate Gyrus	brain
44	chr13:67300600-67300800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:67300600-67300800	Enhancers	Brain Hippocampus Middle	brain
46	chr13:67300800-67301200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr13:67300800-67301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:67303600-67303800	Enhancers	Brain Angular Gyrus	brain
49	chr13:67319200-67320000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr13:67319200-67320400	Enhancers	Brain Angular Gyrus	brain

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