Variant report

Variant	nsv976255
Chromosome Location	chr13:94724378-94733798
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	chr13:94714803..94717263-chr13:94722478..94725269,2	MCF-7	breast:

Extended variants
information (count: 345 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9301933	chr13:94724424-94724425	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4773775	chr13:94724456-94724457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550283177	chr13:94724459-94724460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74111429	chr13:94724472-94724473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529312254	chr13:94724474-94724475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375863712	chr13:94724538-94724539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182939396	chr13:94724585-94724586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568375309	chr13:94724588-94724589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141653680	chr13:94724613-94724614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9589891	chr13:94724624-94724625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111427017	chr13:94724628-94724629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373310052	chr13:94724643-94724644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539231383	chr13:94724679-94724680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202158032	chr13:94724682-94724683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185716420	chr13:94724693-94724694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576020741	chr13:94724710-94724711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561249812	chr13:94724725-94724726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190915035	chr13:94724732-94724733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4773776	chr13:94724733-94724734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369112661	chr13:94724738-94724739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571704052	chr13:94724748-94724749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541367444	chr13:94724755-94724756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183872041	chr13:94724769-94724770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578145496	chr13:94724771-94724772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543626743	chr13:94724791-94724792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563822997	chr13:94724796-94724797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9516339	chr13:94724797-94724798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9524321	chr13:94724842-94724843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559823572	chr13:94724852-94724853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528477234	chr13:94724886-94724887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539184917	chr13:94724901-94724902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547739736	chr13:94724905-94724906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570624849	chr13:94724944-94724945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9516340	chr13:94724978-94724979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188036555	chr13:94725015-94725016	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs569734718	chr13:94725024-94725025	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs147411347	chr13:94725039-94725040	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs139943690	chr13:94725041-94725042	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs9516341	chr13:94725048-94725049	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558447679	chr13:94725060-94725061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs578164858	chr13:94725121-94725122	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs11618297	chr13:94725237-94725238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79063854	chr13:94725251-94725252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9516342	chr13:94725327-94725328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192247904	chr13:94725330-94725331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559862149	chr13:94725393-94725394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528514966	chr13:94725395-94725396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183375074	chr13:94725409-94725410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142884317	chr13:94725496-94725497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533032109	chr13:94725524-94725525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94718200-94724600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:94718400-94724800	Weak transcription	NHLF	lung
3	chr13:94723800-94726000	Enhancers	HSMM	muscle
4	chr13:94723800-94726600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:94724000-94724800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:94724200-94725000	Weak transcription	NH-A	brain
7	chr13:94724200-94733000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:94724600-94726000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:94724600-94726000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:94724600-94726000	Enhancers	HSMMtube	muscle
11	chr13:94724800-94725600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:94724800-94725800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:94724800-94725800	Enhancers	Fetal Stomach	stomach
14	chr13:94724800-94726000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:94724800-94726000	Enhancers	NHLF	lung
16	chr13:94724800-94726200	Enhancers	NHDF-Ad	bronchial
17	chr13:94724800-94726200	Enhancers	Osteobl	bone
18	chr13:94724800-94726400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:94724800-94726600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:94725000-94725200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:94725000-94725400	Enhancers	Brain Germinal Matrix	brain
22	chr13:94725000-94725400	Enhancers	Rectal Smooth Muscle	rectum
23	chr13:94725000-94725800	Enhancers	Colon Smooth Muscle	Colon
24	chr13:94725000-94726000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:94725000-94726000	Enhancers	NH-A	brain
26	chr13:94725200-94725800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:94725600-94726000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:94725800-94726600	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:94726000-94726400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:94726000-94731800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:94726000-94734600	Weak transcription	HSMMtube	muscle
32	chr13:94726200-94731600	Weak transcription	NHDF-Ad	bronchial
33	chr13:94726400-94731800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:94726600-94726800	Enhancers	Colon Smooth Muscle	Colon
35	chr13:94727200-94728400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:94728400-94730000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:94730000-94732600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:94730600-94731000	Enhancers	Colon Smooth Muscle	Colon
39	chr13:94731000-94734600	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:94731400-94732000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr13:94731600-94733200	Enhancers	NHDF-Ad	bronchial
42	chr13:94731800-94732200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:94731800-94733000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:94731800-94733200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:94731800-94733400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:94731800-94733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:94732000-94732200	Enhancers	Rectal Smooth Muscle	rectum
48	chr13:94732000-94733200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:94732000-94733200	Enhancers	HSMM	muscle
50	chr13:94732000-94733400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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