Variant report

Variant	esv3344013
Chromosome Location	chr13:111149968-111150452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111149836..111151933-chr13:111211909..111213452,2	K562	blood:
2	chr13:111148436..111150454-chr13:111154372..111156484,2	K562	blood:
3	chr13:111145123..111148050-chr13:111150419..111153433,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74884672	chr13:111149981-111149982	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372515854	chr13:111150007-111150008	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77996504	chr13:111150016-111150017	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76684639	chr13:111150024-111150025	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79220291	chr13:111150030-111150031	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200268927	chr13:111150047-111150048	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75597579	chr13:111150050-111150051	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550116976	chr13:111150058-111150059	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74687672	chr13:111150059-111150060	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201528660	chr13:111150061-111150062	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35232900	chr13:111150066-111150067	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79498294	chr13:111150067-111150068	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76666078	chr13:111150073-111150074	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75255411	chr13:111150093-111150094	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12874280	chr13:111150103-111150104	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9559830	chr13:111150105-111150106	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75234273	chr13:111150109-111150110	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199688360	chr13:111150111-111150112	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111646073	chr13:111150113-111150114	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9559831	chr13:111150115-111150116	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113237178	chr13:111150121-111150122	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552278027	chr13:111150145-111150146	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570681018	chr13:111150146-111150147	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74597766	chr13:111150148-111150149	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12874169	chr13:111150156-111150157	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28475219	chr13:111150158-111150159	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12874177	chr13:111150164-111150165	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61970308	chr13:111150168-111150169	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112713833	chr13:111150191-111150192	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12874194	chr13:111150201-111150202	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113610242	chr13:111150207-111150208	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12874202	chr13:111150211-111150212	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111753982	chr13:111150234-111150235	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12874316	chr13:111150244-111150245	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111751665	chr13:111150250-111150251	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113018160	chr13:111150254-111150255	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113888863	chr13:111150277-111150278	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113162835	chr13:111150293-111150294	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2479424	chr13:111150318-111150319	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113990533	chr13:111150320-111150321	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112540988	chr13:111150336-111150337	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556394346	chr13:111150340-111150341	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568707284	chr13:111150378-111150379	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183251817	chr13:111150419-111150420	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	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	17122850	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
2	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
3	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
5	chr13:111109600-111158800	Strong transcription	Ovary	ovary
6	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
10	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
12	chr13:111124400-111152000	Strong transcription	Osteobl	bone
13	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
15	chr13:111127600-111153000	Weak transcription	Brain Substantia Nigra	brain
16	chr13:111127600-111156200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr13:111130600-111155400	Strong transcription	Left Ventricle	heart
18	chr13:111131000-111151200	Weak transcription	Right Atrium	heart
19	chr13:111131000-111151800	Strong transcription	HUVEC	blood vessel
20	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
21	chr13:111131400-111158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr13:111131800-111159400	Weak transcription	Esophagus	oesophagus
23	chr13:111132200-111151800	Strong transcription	Adipose Nuclei	Adipose
24	chr13:111132200-111152200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:111132200-111158400	Strong transcription	Colon Smooth Muscle	Colon
26	chr13:111132200-111158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:111138800-111155400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr13:111139600-111157800	Strong transcription	Placenta	Placenta
29	chr13:111139600-111166400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:111139600-111166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr13:111139800-111150600	Strong transcription	NH-A	brain
32	chr13:111139800-111155400	Strong transcription	Right Ventricle	heart
33	chr13:111139800-111155600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:111139800-111158000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:111140000-111151600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:111140800-111153000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:111140800-111166600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:111141000-111152600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:111141000-111159000	Strong transcription	NHLF	lung
41	chr13:111141600-111165600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:111141800-111155400	Strong transcription	Spleen	Spleen
43	chr13:111143200-111156400	Weak transcription	Stomach Mucosa	stomach
44	chr13:111143400-111166800	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr13:111143600-111150000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:111143600-111159000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:111144000-111150600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:111145200-111155800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr13:111145400-111151800	Strong transcription	Fetal Muscle Leg	muscle
50	chr13:111145800-111160200	Weak transcription	Psoas Muscle	Psoas

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