Variant report

Variant	esv2561636
Chromosome Location	chr13:84711777-84713305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9546613	chr13:84711831-84711832	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114105472	chr13:84711845-84711846	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs146819864	chr13:84711865-84711866	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190683715	chr13:84711889-84711890	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs77710728	chr13:84711946-84711947	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs140567675	chr13:84711954-84711955	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182702550	chr13:84711975-84711976	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556291988	chr13:84711999-84712000	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372901128	chr13:84712000-84712001	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs200729589	chr13:84712032-84712033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138137006	chr13:84712033-84712034	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530300269	chr13:84712083-84712084	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566739005	chr13:84712103-84712104	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145690921	chr13:84712106-84712107	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569811945	chr13:84712112-84712113	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs367584231	chr13:84712115-84712116	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs66697853	chr13:84712178-84712179	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558634856	chr13:84712194-84712195	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs565688665	chr13:84712278-84712279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534717488	chr13:84712334-84712335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9531559	chr13:84712384-84712385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574675621	chr13:84712435-84712436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570702227	chr13:84712441-84712442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186401852	chr13:84712477-84712478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556920783	chr13:84712488-84712489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577123190	chr13:84712526-84712527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545870430	chr13:84712546-84712547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537998307	chr13:84712589-84712590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151047779	chr13:84712615-84712616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572844146	chr13:84712643-84712644	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs80263783	chr13:84712646-84712647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs75268134	chr13:84712663-84712664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs530372986	chr13:84712664-84712665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs573543804	chr13:84712711-84712712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542736126	chr13:84712720-84712721	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs9546614	chr13:84712734-84712735	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532567445	chr13:84712746-84712747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs371899605	chr13:84712792-84712793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191257381	chr13:84712799-84712800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534999548	chr13:84712827-84712828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367981360	chr13:84712859-84712860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548342787	chr13:84712874-84712875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568337322	chr13:84712906-84712907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35289774	chr13:84712936-84712937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536909630	chr13:84712998-84712999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557298103	chr13:84713038-84713039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78214862	chr13:84713055-84713056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539661791	chr13:84713056-84713057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553089335	chr13:84713122-84713123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559181397	chr13:84713183-84713184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Breast cancer	21858162	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Epilepsy	20502679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84705600-84713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:84710600-84711800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr13:84710800-84711800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:84710800-84712000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:84710800-84712000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr13:84710800-84712000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:84710800-84712200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:84711000-84711800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:84711000-84711800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr13:84711200-84711800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr13:84711200-84712000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr13:84711200-84712000	Enhancers	NHEK	skin
13	chr13:84711400-84711800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:84711400-84711800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr13:84711400-84711800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr13:84711400-84711800	Active TSS	Primary T cells fromperipheralblood	blood
17	chr13:84711400-84711800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr13:84711400-84711800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr13:84711400-84711800	Active TSS	HMEC	breast
20	chr13:84711400-84711800	Active TSS	Osteobl	bone
21	chr13:84711400-84712000	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr13:84711600-84711800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr13:84711600-84711800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:84711600-84711800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:84711600-84712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:84711600-84712000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr13:84711600-84712600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr13:84711600-84712800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr13:84711600-84714600	Enhancers	Dnd41	blood
30	chr13:84711600-84716600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr13:84711800-84712000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr13:84711800-84712200	Enhancers	Primary B cells from cord blood	blood
33	chr13:84711800-84712200	Enhancers	Primary T cells from cord blood	blood
34	chr13:84711800-84712800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr13:84711800-84712800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr13:84711800-84712800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr13:84711800-84713000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:84711800-84713600	Weak transcription	HMEC	breast
39	chr13:84712000-84712600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr13:84712000-84712600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:84712000-84712800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr13:84712000-84712800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:84712000-84713600	Weak transcription	NHEK	skin
44	chr13:84712000-84714200	Enhancers	Primary hematopoietic stem cells	blood
45	chr13:84712000-84715400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:84712200-84712600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:84712600-84712800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr13:84712600-84712800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:84712600-84713200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr13:84712600-84713400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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