Variant report

Variant	nsv1041530
Chromosome Location	chr13:64027587-64073977
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	chr13:62693652..62694547-chr13:64030161..64030676,2	MCF-7	breast:
2	chr13:64029217..64030812-chr2:218574718..218576354,2	MCF-7	breast:

Extended variants
information (count: 400 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185271642	chr13:64033241-64033242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1156584	chr13:64033270-64033271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370924409	chr13:64033314-64033315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115534251	chr13:64033349-64033350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191954853	chr13:64033354-64033355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536075312	chr13:64033398-64033399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181522157	chr13:64033610-64033611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147048372	chr13:64033640-64033641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562863212	chr13:64033641-64033642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2128966	chr13:64033647-64033648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531794212	chr13:64033662-64033663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76703181	chr13:64033664-64033665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111480261	chr13:64033699-64033700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1156582	chr13:64033716-64033717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371627341	chr13:64033740-64033741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547942659	chr13:64033850-64033851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186900823	chr13:64033868-64033869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527624252	chr13:64033874-64033875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547283053	chr13:64033897-64033898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9570894	chr13:64033921-64033922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9570895	chr13:64033951-64033952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552475332	chr13:64033955-64033956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192050007	chr13:64034013-64034014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537882371	chr13:64034061-64034062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556292099	chr13:64034078-64034079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568113414	chr13:64034083-64034084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183362671	chr13:64034127-64034128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9570896	chr13:64034133-64034134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78381656	chr13:64034135-64034136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74913220	chr13:64034154-64034155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9570897	chr13:64034164-64034165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs489386	chr13:64034191-64034192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558332275	chr13:64034198-64034199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556257711	chr13:64034202-64034203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1483886	chr13:64034238-64034239	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs150368868	chr13:64034247-64034248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138043380	chr13:64034251-64034252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540961357	chr13:64034252-64034253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541942929	chr13:64034272-64034273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560071084	chr13:64034273-64034274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527517759	chr13:64034275-64034276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs488467	chr13:64034281-64034282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535704957	chr13:64034292-64034293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142519894	chr13:64034315-64034316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73497693	chr13:64034332-64034333	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186950157	chr13:64034334-64034335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574245409	chr13:64034340-64034341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371682962	chr13:64034366-64034367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9564058	chr13:64034367-64034368	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535512918	chr13:64034374-64034375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Multiple myeloma	17550852	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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64033200-64033400	Enhancers	Fetal Lung	lung
2	chr13:64033600-64034600	Weak transcription	Fetal Lung	lung
3	chr13:64034200-64034800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:64034600-64036200	Enhancers	Fetal Lung	lung
5	chr13:64034800-64035800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:64035000-64035800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:64035800-64036000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:64037800-64038800	Enhancers	GM12878-XiMat	blood
9	chr13:64038000-64039000	Enhancers	HMEC	breast
10	chr13:64038200-64038400	Enhancers	Gastric	stomach
11	chr13:64038400-64038800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:64038400-64039000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:64045800-64046000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:64052400-64052800	Enhancers	Fetal Lung	lung
15	chr13:64052800-64055400	Weak transcription	Fetal Lung	lung
16	chr13:64055200-64055800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:64055200-64056000	Enhancers	Adipose Nuclei	Adipose
18	chr13:64055200-64056000	Enhancers	Osteobl	bone
19	chr13:64055200-64056200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:64055400-64055800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:64055400-64055800	Enhancers	Fetal Lung	lung
22	chr13:64055400-64055800	Enhancers	Fetal Muscle Leg	muscle
23	chr13:64055400-64056200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:64063800-64064000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:64063800-64064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:64067400-64068200	Enhancers	NH-A	brain
27	chr13:64071200-64072600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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