Variant report

Variant	nsv900390
Chromosome Location	chr13:66990736-67094634
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	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:
2	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
3	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:
4	chr13:67065181..67066891-chr13:67075366..67077021,2	MCF-7	breast:
5	chr10:29694023..29695542-chr13:67026635..67028155,2	MCF-7	breast:
6	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
7	chr13:67065181..67066891-chr13:67075366..67077021,2	MCF-7	breast:
8	chr13:67027655..67028155-chr8:43092779..43093429,2	MCF-7	breast:

No data

Extended variants
information (count: 3159 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3159 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6562453	chr13:66990736-66990737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560600075	chr13:66990766-66990767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115192491	chr13:66990837-66990838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545183803	chr13:66990849-66990850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565064494	chr13:66990858-66990859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530773697	chr13:66990873-66990874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558273886	chr13:66990884-66990885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561203581	chr13:66990945-66990946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529659824	chr13:66990970-66990971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140372582	chr13:66991004-66991005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370517705	chr13:66991005-66991006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566518857	chr13:66991013-66991014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372818690	chr13:66991067-66991068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183368042	chr13:66991074-66991075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551892026	chr13:66991082-66991083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs41414744	chr13:66991101-66991102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145549744	chr13:66991108-66991109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554825851	chr13:66991133-66991134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568674570	chr13:66991137-66991138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373945626	chr13:66991144-66991145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570050469	chr13:66991151-66991152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537647533	chr13:66991152-66991153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138112519	chr13:66991154-66991155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553889060	chr13:66991171-66991172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552428643	chr13:66991204-66991205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187499144	chr13:66991212-66991213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148922849	chr13:66991214-66991215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7318423	chr13:66991231-66991232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575494046	chr13:66991232-66991233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544432257	chr13:66991305-66991306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538655168	chr13:66991380-66991381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35896198	chr13:66991382-66991383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148103785	chr13:66991403-66991404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529945504	chr13:66991405-66991406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9540744	chr13:66991465-66991466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191305699	chr13:66991467-66991468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9529059	chr13:66991537-66991538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139255841	chr13:66991559-66991560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372279079	chr13:66991602-66991603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11620290	chr13:66991607-66991608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376817093	chr13:66991610-66991611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367648241	chr13:66991639-66991640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564209425	chr13:66991690-66991691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560968566	chr13:66991694-66991695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531756337	chr13:66991752-66991753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548396940	chr13:66991754-66991755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568691602	chr13:66991767-66991768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143257445	chr13:66991780-66991781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183063518	chr13:66991787-66991788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572976404	chr13:66991856-66991857	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66988800-66992200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:66989800-66999600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:66990200-66994800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:66991400-66991800	Weak transcription	Fetal Lung	lung
5	chr13:66992200-66992600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:66992800-66994200	Weak transcription	Fetal Lung	lung
7	chr13:66997400-67004800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:66997800-66998200	Enhancers	Brain Cingulate Gyrus	brain
9	chr13:66997800-66998400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:66998200-66998400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr13:66998200-67000000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:66998400-66998800	Enhancers	Brain Cingulate Gyrus	brain
13	chr13:66998400-66999200	Enhancers	NH-A	brain
14	chr13:66998400-66999600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:66998400-67000000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:66998400-67000000	Enhancers	Osteobl	bone
17	chr13:66998400-67000400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:66998400-67000800	Enhancers	HSMM	muscle
19	chr13:66998600-66999000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:66999000-66999200	Enhancers	Brain Hippocampus Middle	brain
21	chr13:66999200-66999800	Weak transcription	NH-A	brain
22	chr13:66999200-67003800	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:66999800-67000000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:66999800-67000000	Enhancers	NH-A	brain
25	chr13:67000000-67000400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:67000000-67001200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:67000400-67001400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:67000400-67001600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:67000800-67006800	Weak transcription	HSMM	muscle
30	chr13:67001200-67002000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:67001400-67001800	Enhancers	Fetal Kidney	kidney
32	chr13:67001400-67002000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:67001600-67002000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:67002000-67003600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:67003600-67004600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:67003800-67005400	Enhancers	Brain Substantia Nigra	brain
37	chr13:67003800-67005600	Enhancers	Brain Angular Gyrus	brain
38	chr13:67003800-67006000	Enhancers	Brain Hippocampus Middle	brain
39	chr13:67004000-67005200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr13:67004400-67004800	Enhancers	Brain Anterior Caudate	brain
41	chr13:67004400-67005200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:67004600-67005200	Enhancers	Brain Cingulate Gyrus	brain
43	chr13:67004800-67006000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr13:67005400-67016400	Weak transcription	Brain Substantia Nigra	brain
45	chr13:67006000-67007000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr13:67006800-67007000	Enhancers	HSMM	muscle
47	chr13:67015400-67015600	Enhancers	Brain Hippocampus Middle	brain
48	chr13:67015600-67022200	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:67016400-67017400	Enhancers	Brain Substantia Nigra	brain
50	chr13:67017000-67017400	Enhancers	Brain Anterior Caudate	brain

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