Variant report

Variant	esv3340837
Chromosome Location	chr13:110384401-110386499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573986010	chr13:110384402-110384403	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs576196235	chr13:110384406-110384407	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556180039	chr13:110384422-110384423	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373950638	chr13:110384424-110384425	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs180683036	chr13:110384425-110384426	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565011737	chr13:110384428-110384429	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs11069802	chr13:110384432-110384433	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145563565	chr13:110384443-110384444	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201062349	chr13:110384446-110384447	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11840368	chr13:110384449-110384450	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368837707	chr13:110384458-110384459	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549652421	chr13:110384462-110384463	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569320463	chr13:110384475-110384476	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531957952	chr13:110384480-110384481	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187423406	chr13:110384483-110384484	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571393939	chr13:110384489-110384490	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs146508893	chr13:110384496-110384497	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs368718215	chr13:110384497-110384498	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553748940	chr13:110384503-110384504	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs116816063	chr13:110384505-110384506	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs9521494	chr13:110384508-110384509	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145655481	chr13:110384512-110384513	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148081095	chr13:110384514-110384515	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs9521495	chr13:110384516-110384517	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs117728294	chr13:110384529-110384530	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572213327	chr13:110384531-110384532	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190850188	chr13:110384559-110384560	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543809559	chr13:110384569-110384570	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs541172154	chr13:110384580-110384581	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560816873	chr13:110384597-110384598	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs529721801	chr13:110384621-110384622	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs201847906	chr13:110384631-110384632	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs542926586	chr13:110384639-110384640	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs141916392	chr13:110384673-110384674	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7330811	chr13:110384678-110384679	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs34420682	chr13:110384683-110384684	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs529585506	chr13:110384688-110384689	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549152641	chr13:110384692-110384693	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs150216506	chr13:110384697-110384698	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527734675	chr13:110384767-110384768	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7331016	chr13:110384798-110384799	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs56140757	chr13:110384811-110384812	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559922567	chr13:110384816-110384817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs528698333	chr13:110384850-110384851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs143182060	chr13:110384874-110384875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs549934021	chr13:110384895-110384896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs9587973	chr13:110384902-110384903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs538594830	chr13:110384930-110384931	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571658085	chr13:110384934-110384935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs187289715	chr13:110384944-110384945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	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
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110378400-110386200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:110382000-110386000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:110382200-110384600	Active TSS	Primary B cells from cord blood	blood
4	chr13:110382200-110384800	Active TSS	Dnd41	blood
5	chr13:110382200-110385400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:110382200-110388800	Weak transcription	Fetal Heart	heart
7	chr13:110382400-110384600	Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr13:110382600-110389800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:110383600-110384600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:110383800-110384600	Active TSS	Primary T cells from cord blood	blood
11	chr13:110383800-110384600	Active TSS	Monocytes-CD14+_RO01746	blood
12	chr13:110384000-110384600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr13:110384000-110384600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr13:110384000-110384600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:110384000-110384600	Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr13:110384200-110384600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:110384200-110384600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr13:110384400-110384600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr13:110384400-110384600	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr13:110384400-110384600	Active TSS	Ovary	ovary
21	chr13:110384400-110385800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr13:110384400-110386200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:110384400-110386400	ZNF genes & repeats	Fetal Thymus	thymus
24	chr13:110384400-110387400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr13:110384600-110387400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr13:110384800-110385400	Weak transcription	Dnd41	blood
27	chr13:110385400-110386600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr13:110385400-110388200	Enhancers	Dnd41	blood
29	chr13:110385600-110386400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:110385800-110386000	Active TSS	Gastric	stomach
31	chr13:110385800-110386600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr13:110385800-110387000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:110386000-110386200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:110386000-110386600	Enhancers	Thymus	Thymus
35	chr13:110386000-110396200	Weak transcription	Gastric	stomach
36	chr13:110386200-110386400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:110386200-110388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:110386200-110393000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:110386400-110386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:110386400-110387000	Enhancers	Fetal Thymus	thymus
41	chr13:110386400-110387200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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