Variant report

Variant	nsv1051051
Chromosome Location	chr13:66948744-67126296
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67065181..67066891-chr13:67075366..67077021,2	MCF-7	breast:
2	chr13:66978910..66981496-chr13:66983194..66984802,2	K562	blood:
3	chr13:67027655..67028155-chr8:43092779..43093429,2	MCF-7	breast:
4	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
5	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
6	chr13:66978910..66981496-chr13:66983194..66984802,2	K562	blood:
7	chr10:29694023..29695542-chr13:67026635..67028155,2	MCF-7	breast:
8	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
9	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
10	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
11	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
12	chr13:67065181..67066891-chr13:67075366..67077021,2	MCF-7	breast:
13	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:
14	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:
15	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:

No data

Extended variants
information (count: 4969 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:4969 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375657246	chr13:66948868-66948869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575242597	chr13:66948873-66948874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528567551	chr13:66948926-66948927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148368236	chr13:66948930-66948931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80098585	chr13:66949014-66949015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76409526	chr13:66949038-66949039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12584011	chr13:66949097-66949098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs370598823	chr13:66949164-66949165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188798480	chr13:66949189-66949190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181574064	chr13:66949296-66949297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565350057	chr13:66949319-66949320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565574507	chr13:66949330-66949331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370148323	chr13:66949331-66949332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9540731	chr13:66949370-66949371	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557568015	chr13:66949392-66949393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184875834	chr13:66949442-66949443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533267627	chr13:66949542-66949543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532186164	chr13:66949561-66949562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577710746	chr13:66949575-66949576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551458766	chr13:66949585-66949586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573189466	chr13:66949600-66949601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540507163	chr13:66949617-66949618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189759972	chr13:66949653-66949654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368473728	chr13:66949743-66949744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574227731	chr13:66949749-66949750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141588193	chr13:66949784-66949785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559750471	chr13:66949790-66949791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563383377	chr13:66949870-66949871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573283952	chr13:66949877-66949878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545472490	chr13:66949906-66949907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117679724	chr13:66949925-66949926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146169981	chr13:66949995-66949996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73205668	chr13:66950010-66950011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550509599	chr13:66950037-66950038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563528726	chr13:66950044-66950045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529126076	chr13:66950049-66950050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76506172	chr13:66950131-66950132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114937127	chr13:66950166-66950167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528070027	chr13:66950169-66950170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563045812	chr13:66950179-66950180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551394855	chr13:66950217-66950218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2440612	chr13:66950233-66950234	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537177147	chr13:66950247-66950248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74322729	chr13:66950254-66950255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567873749	chr13:66950331-66950332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536906288	chr13:66950360-66950361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180830301	chr13:66950420-66950421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573627533	chr13:66950431-66950432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186068031	chr13:66950512-66950513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113537204	chr13:66950517-66950518	Enhancers 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:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66946800-66953000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr13:66947000-66950600	Weak transcription	Brain Angular Gyrus	brain
3	chr13:66949200-66951400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:66950200-66951000	Enhancers	Adipose Nuclei	Adipose
5	chr13:66950600-66951000	Enhancers	Brain Angular Gyrus	brain
6	chr13:66951000-66953000	Weak transcription	Brain Angular Gyrus	brain
7	chr13:66953000-66953200	Enhancers	Adipose Nuclei	Adipose
8	chr13:66953000-66953400	Enhancers	Brain Angular Gyrus	brain
9	chr13:66953000-66953400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr13:66953200-66953800	Enhancers	Brain Cingulate Gyrus	brain
11	chr13:66953200-66954600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:66959800-66960200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:66960200-66960600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:66967200-66968200	Enhancers	Fetal Heart	heart
15	chr13:66975600-66983800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:66976000-66976400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:66976000-66977400	Enhancers	A549	lung
18	chr13:66976000-66979600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:66976200-66976400	Enhancers	HSMM	muscle
20	chr13:66976400-66976800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:66976800-66977000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:66977000-66979600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:66977400-66979800	Weak transcription	A549	lung
24	chr13:66978000-66978200	Enhancers	Brain Anterior Caudate	brain
25	chr13:66978000-66978200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:66978000-66981800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:66978200-66978400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:66978200-66978400	Enhancers	NH-A	brain
29	chr13:66978200-66979400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr13:66978400-66978600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:66978400-66978600	Enhancers	HSMMtube	muscle
32	chr13:66978400-66978800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr13:66978400-66978800	Enhancers	Brain Cingulate Gyrus	brain
34	chr13:66978400-66979200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:66978400-66981600	Enhancers	HSMM	muscle
36	chr13:66978600-66979200	Weak transcription	HSMMtube	muscle
37	chr13:66978600-66979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:66978600-66980000	Weak transcription	Brain Anterior Caudate	brain
39	chr13:66978600-66981200	Enhancers	NHEK	skin
40	chr13:66978800-66979200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr13:66978800-66979200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr13:66979200-66980000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:66979200-66980600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr13:66979200-66981400	Enhancers	HSMMtube	muscle
45	chr13:66979200-66982000	Enhancers	Brain Cingulate Gyrus	brain
46	chr13:66979400-66980200	Enhancers	Adipose Nuclei	Adipose
47	chr13:66979400-66981600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:66979600-66980200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:66979600-66980200	Enhancers	Osteobl	bone
50	chr13:66979600-66980400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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