Variant report

Variant	esv3351332
Chromosome Location	chr13:87771951-87775549
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	chr13:87745697..87747842-chr13:87770397..87772892,2	MCF-7	breast:

Extended variants
information (count: 144 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7984608	chr13:87771973-87771974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193078363	chr13:87772066-87772067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530599605	chr13:87772123-87772124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs67126063	chr13:87772164-87772165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533679626	chr13:87772169-87772170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201083986	chr13:87772170-87772171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114051094	chr13:87772201-87772202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548445825	chr13:87772208-87772209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528330752	chr13:87772211-87772212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568742489	chr13:87772213-87772214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570885935	chr13:87772274-87772275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532103926	chr13:87772309-87772310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550245981	chr13:87772312-87772313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185034443	chr13:87772343-87772344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142086500	chr13:87772388-87772389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79736222	chr13:87772400-87772401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555097239	chr13:87772427-87772428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567061102	chr13:87772451-87772452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75744606	chr13:87772478-87772479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577285745	chr13:87772578-87772579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544749154	chr13:87772609-87772610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190321296	chr13:87772651-87772652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556370822	chr13:87772656-87772657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575440743	chr13:87772723-87772724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539411754	chr13:87772727-87772728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542468342	chr13:87772731-87772732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181082239	chr13:87772749-87772750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73561060	chr13:87772755-87772756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540117803	chr13:87772763-87772764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564573688	chr13:87772793-87772794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531971646	chr13:87772803-87772804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35287578	chr13:87772833-87772834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550698642	chr13:87772844-87772845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568863756	chr13:87772899-87772900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184202696	chr13:87772933-87772934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548512821	chr13:87772964-87772965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567042267	chr13:87772978-87772979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534524567	chr13:87773000-87773001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552885243	chr13:87773023-87773024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570896019	chr13:87773033-87773034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538238185	chr13:87773137-87773138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556472460	chr13:87773143-87773144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574853511	chr13:87773167-87773168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535919130	chr13:87773170-87773171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188240491	chr13:87773171-87773172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572685558	chr13:87773239-87773240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74750254	chr13:87773245-87773246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556160581	chr13:87773280-87773281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148985725	chr13:87773282-87773283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576681293	chr13:87773323-87773324	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
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87770400-87781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:87771400-87772000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:87771400-87772400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:87771400-87773200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:87772000-87774200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:87772200-87772600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:87772200-87776800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:87772400-87774200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:87772600-87773000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:87773000-87773200	Enhancers	Hela-S3	cervix
11	chr13:87773000-87773600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:87773000-87776800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:87773000-87776800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:87773200-87774200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:87773400-87775000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:87773400-87775400	Weak transcription	Hela-S3	cervix
17	chr13:87773600-87775000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:87774200-87774400	Enhancers	HSMMtube	muscle
19	chr13:87774200-87774800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:87774200-87776400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr13:87774200-87776800	Enhancers	NH-A	brain
22	chr13:87774200-87777200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:87774200-87777200	Enhancers	HSMM	muscle
24	chr13:87774400-87774600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:87774400-87775200	Weak transcription	HSMMtube	muscle
26	chr13:87774400-87777400	Enhancers	HMEC	breast
27	chr13:87774600-87775400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:87774800-87775200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:87774800-87775600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:87775000-87775200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:87775000-87775600	Enhancers	Primary hematopoietic stem cells	blood
32	chr13:87775000-87776400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:87775200-87775400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:87775200-87775400	Enhancers	HSMMtube	muscle
35	chr13:87775200-87776200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:87775200-87776400	Enhancers	Fetal Heart	heart
37	chr13:87775200-87777400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:87775400-87776200	Weak transcription	HSMMtube	muscle
39	chr13:87775400-87776400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:87775400-87776600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:87775400-87777200	Enhancers	Hela-S3	cervix

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