Variant report

Variant	esv3448379
Chromosome Location	chr13:111045451-111048449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536728853	chr13:111045451-111045452	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564946426	chr13:111045453-111045454	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9559786	chr13:111045559-111045560	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570016676	chr13:111045561-111045562	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs78176104	chr13:111045602-111045603	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558947135	chr13:111045605-111045606	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183969666	chr13:111045623-111045624	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565016990	chr13:111045638-111045639	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112886340	chr13:111045639-111045640	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374968128	chr13:111045682-111045683	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536153193	chr13:111045695-111045696	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574926033	chr13:111045715-111045716	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78368565	chr13:111045745-111045746	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372164271	chr13:111045756-111045757	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188972088	chr13:111045786-111045787	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143781696	chr13:111045802-111045803	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550583266	chr13:111045828-111045829	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540430188	chr13:111045900-111045901	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541545300	chr13:111045928-111045929	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111823390	chr13:111045930-111045931	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138397169	chr13:111045933-111045934	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532433772	chr13:111045934-111045935	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190775083	chr13:111045945-111045946	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569199866	chr13:111045995-111045996	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112386124	chr13:111045996-111045997	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183026893	chr13:111045999-111046000	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566982827	chr13:111046023-111046024	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187352374	chr13:111046024-111046025	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191813394	chr13:111046032-111046033	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570982544	chr13:111046036-111046037	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538518601	chr13:111046037-111046038	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556596587	chr13:111046102-111046103	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574868160	chr13:111046110-111046111	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542220065	chr13:111046111-111046112	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554204542	chr13:111046118-111046119	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572595416	chr13:111046148-111046149	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558350613	chr13:111046162-111046163	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540000415	chr13:111046166-111046167	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142930305	chr13:111046174-111046175	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532222350	chr13:111046234-111046235	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184743012	chr13:111046236-111046237	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187662135	chr13:111046263-111046264	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541693648	chr13:111046270-111046271	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530074417	chr13:111046324-111046325	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111779547	chr13:111046356-111046357	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61963199	chr13:111046360-111046361	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs75414141	chr13:111046370-111046371	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61963200	chr13:111046413-111046414	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538080739	chr13:111046419-111046420	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556770945	chr13:111046439-111046440	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111039200-111045600	Enhancers	Placenta	Placenta
2	chr13:111040600-111047600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr13:111040800-111048000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:111040800-111049600	Enhancers	NHDF-Ad	bronchial
5	chr13:111040800-111050800	Weak transcription	Psoas Muscle	Psoas
6	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:111041200-111048000	Enhancers	Aorta	Aorta
8	chr13:111041400-111048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:111041400-111048600	Weak transcription	Esophagus	oesophagus
10	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
11	chr13:111041600-111046200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:111041600-111047400	Weak transcription	Colonic Mucosa	Colon
13	chr13:111041800-111045600	Enhancers	Rectal Smooth Muscle	rectum
14	chr13:111041800-111048600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:111042200-111046600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:111042200-111048800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:111042800-111045600	Enhancers	HSMMtube	muscle
18	chr13:111043000-111048800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:111043000-111049600	Weak transcription	Right Ventricle	heart
20	chr13:111043000-111057000	Weak transcription	NHEK	skin
21	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:111043000-111060000	Weak transcription	A549	lung
23	chr13:111043600-111045600	Enhancers	HSMM	muscle
24	chr13:111043600-111046600	Enhancers	Fetal Muscle Leg	muscle
25	chr13:111044000-111045600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:111044000-111048400	Weak transcription	HMEC	breast
27	chr13:111044000-111051000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:111044200-111045600	Enhancers	Left Ventricle	heart
29	chr13:111044200-111046000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:111044200-111049400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr13:111044400-111046400	Enhancers	Fetal Muscle Trunk	muscle
32	chr13:111044400-111048800	Weak transcription	Fetal Intestine Small	intestine
33	chr13:111044600-111045600	Enhancers	Fetal Kidney	kidney
34	chr13:111044600-111045600	Enhancers	HUVEC	blood vessel
35	chr13:111044600-111046000	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr13:111044800-111045600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr13:111044800-111045600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:111044800-111045600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr13:111044800-111045600	Enhancers	Fetal Stomach	stomach
40	chr13:111044800-111049600	Enhancers	Adipose Nuclei	Adipose
41	chr13:111045000-111045600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr13:111045000-111045600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:111045000-111046600	Weak transcription	Ovary	ovary
44	chr13:111045000-111046800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:111045000-111046800	Weak transcription	Lung	lung
46	chr13:111045000-111049600	Enhancers	NHLF	lung
47	chr13:111045200-111045600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:111045200-111045600	Enhancers	Spleen	Spleen
49	chr13:111045200-111046600	Weak transcription	Right Atrium	heart
50	chr13:111045200-111046800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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