Variant report

Variant	esv2761782
Chromosome Location	chr13:30692819-30695797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30687670..30690211-chr13:30694014..30695972,2	MCF-7	breast:
2	chr13:30690726..30692990-chr13:30715205..30717386,2	MCF-7	breast:
3	chr13:30683338..30685506-chr13:30693014..30696213,3	MCF-7	breast:
4	chr13:30687700..30689739-chr13:30690747..30693968,3	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13343214	chr13:30692838-30692839	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188836364	chr13:30692843-30692844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369083964	chr13:30692855-30692856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150111305	chr13:30692856-30692857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554157756	chr13:30692867-30692868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574119444	chr13:30692875-30692876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536627857	chr13:30692884-30692885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556547076	chr13:30692909-30692910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77662064	chr13:30692935-30692936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377617814	chr13:30692954-30692955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192613509	chr13:30692980-30692981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184490949	chr13:30692988-30692989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs693928	chr13:30692993-30692994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138555895	chr13:30693021-30693022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375154781	chr13:30693031-30693032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9670920	chr13:30693034-30693035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529669207	chr13:30693065-30693066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549363229	chr13:30693082-30693083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2892536	chr13:30693119-30693120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531842576	chr13:30693122-30693123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191872991	chr13:30693144-30693145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148811225	chr13:30693188-30693189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565376113	chr13:30693236-30693237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547606314	chr13:30693254-30693255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576832032	chr13:30693262-30693263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149752769	chr13:30693263-30693264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554367138	chr13:30693267-30693268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188788768	chr13:30693282-30693283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370823327	chr13:30693299-30693300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13343216	chr13:30693301-30693302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538529998	chr13:30693308-30693309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558733181	chr13:30693312-30693313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138095241	chr13:30693343-30693344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541197167	chr13:30693452-30693453	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368000005	chr13:30693480-30693481	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554290408	chr13:30693518-30693519	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142683755	chr13:30693549-30693550	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181594788	chr13:30693569-30693570	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184608642	chr13:30693606-30693607	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs7986783	chr13:30693624-30693625	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545340408	chr13:30693625-30693626	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs9551848	chr13:30693634-30693635	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs59662871	chr13:30693660-30693661	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547963326	chr13:30693676-30693677	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs180822490	chr13:30693769-30693770	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138518334	chr13:30693772-30693773	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs530170310	chr13:30693842-30693843	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs529655142	chr13:30693843-30693844	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs550222070	chr13:30693847-30693848	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs375116723	chr13:30693865-30693866	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	17440070	CNVD
Cancer	17440070	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30689600-30693000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:30689600-30693000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:30689600-30693000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr13:30689600-30693200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:30689600-30693200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:30689600-30693200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr13:30689600-30693200	Weak transcription	HSMM	muscle
8	chr13:30689600-30693400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:30689600-30693400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr13:30689600-30693400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:30689600-30693400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr13:30689600-30693400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr13:30689600-30693400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:30689600-30693400	Weak transcription	Fetal Intestine Small	intestine
15	chr13:30689600-30693400	Weak transcription	HSMMtube	muscle
16	chr13:30689600-30693600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:30689600-30693600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:30689600-30697400	Weak transcription	Aorta	Aorta
19	chr13:30689600-30697800	Weak transcription	Spleen	Spleen
20	chr13:30689800-30693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:30689800-30693400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:30689800-30693400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:30689800-30693400	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:30689800-30693800	Weak transcription	Primary B cells from cord blood	blood
25	chr13:30690200-30693400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:30690200-30693600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr13:30690200-30699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:30690400-30693400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:30690800-30693200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:30690800-30693600	Weak transcription	GM12878-XiMat	blood
31	chr13:30691200-30699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr13:30692000-30693000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:30692400-30693400	Enhancers	Primary T cells from cord blood	blood
34	chr13:30692400-30693600	Enhancers	Colon Smooth Muscle	Colon
35	chr13:30692400-30696400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:30692400-30696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:30692600-30693400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:30692600-30693400	Enhancers	Dnd41	blood
39	chr13:30692600-30693600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:30692600-30693600	Enhancers	Rectal Smooth Muscle	rectum
41	chr13:30692600-30695000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr13:30692600-30695400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr13:30692600-30696400	Enhancers	Thymus	Thymus
44	chr13:30692800-30693400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:30692800-30693400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:30692800-30693400	Enhancers	HMEC	breast
47	chr13:30692800-30693600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:30692800-30693600	Enhancers	NHEK	skin
49	chr13:30692800-30696000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:30692800-30696600	Enhancers	Fetal Thymus	thymus

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