Variant report

Variant	esv3371630
Chromosome Location	chr13:110904401-110906674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs190761336	chr13:110904401-110904402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193077913	chr13:110904433-110904434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559237086	chr13:110904517-110904518	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572689894	chr13:110904531-110904532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35806534	chr13:110904568-110904569	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144487343	chr13:110904674-110904675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148462817	chr13:110904751-110904752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185466033	chr13:110904781-110904782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12021142	chr13:110904792-110904793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563675361	chr13:110904793-110904794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10685874	chr13:110904801-110904802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66983625	chr13:110904802-110904803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74184624	chr13:110904809-110904810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78397743	chr13:110904815-110904816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559170797	chr13:110904820-110904821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189993047	chr13:110904824-110904825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74198628	chr13:110904843-110904844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374456416	chr13:110904847-110904848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72527552	chr13:110904849-110904850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376419315	chr13:110904858-110904859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201172431	chr13:110904882-110904883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548342715	chr13:110904891-110904892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375291515	chr13:110904898-110904899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368151879	chr13:110904899-110904900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28532844	chr13:110904911-110904912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546067305	chr13:110904924-110904925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12021147	chr13:110904931-110904932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559180979	chr13:110904948-110904949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111205952	chr13:110904961-110904962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71127925	chr13:110904986-110904987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs66605826	chr13:110904987-110904988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367850749	chr13:110904995-110904996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371995375	chr13:110904996-110904997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374041323	chr13:110905000-110905001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547953006	chr13:110905008-110905009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185794150	chr13:110905022-110905023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571275661	chr13:110905028-110905029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs682182	chr13:110905048-110905049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs682179	chr13:110905053-110905054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368150319	chr13:110905054-110905055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372413615	chr13:110905072-110905073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs681837	chr13:110905077-110905078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11069833	chr13:110905092-110905093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77321410	chr13:110905106-110905107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76523403	chr13:110905115-110905116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78471929	chr13:110905130-110905131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112546946	chr13:110905164-110905165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530606708	chr13:110905186-110905187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55913277	chr13:110905202-110905203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550352857	chr13:110905326-110905327	Weak transcription	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:110891400-110908600	Weak transcription	Psoas Muscle	Psoas
4	chr13:110894600-110912200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:110897800-110914200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:110897800-110914800	Weak transcription	Stomach Mucosa	stomach
7	chr13:110899400-110907400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:110899400-110907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:110900000-110908600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:110900000-110916200	Weak transcription	A549	lung
11	chr13:110900400-110913600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:110900600-110913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:110900800-110907400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:110901000-110907400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:110901000-110913600	Weak transcription	Fetal Intestine Large	intestine
16	chr13:110901000-110919400	Weak transcription	Fetal Brain Male	brain
17	chr13:110901400-110906400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:110902600-110904600	Enhancers	Right Ventricle	heart
19	chr13:110903000-110914000	Weak transcription	Fetal Intestine Small	intestine
20	chr13:110903200-110906400	Weak transcription	Fetal Lung	lung
21	chr13:110903200-110906400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr13:110903400-110906400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:110903400-110906400	Weak transcription	Fetal Kidney	kidney
24	chr13:110903400-110908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:110903600-110904600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr13:110903600-110906400	Weak transcription	Fetal Stomach	stomach
27	chr13:110903800-110904600	Enhancers	Fetal Muscle Leg	muscle
28	chr13:110903800-110906400	Weak transcription	Colonic Mucosa	Colon
29	chr13:110903800-110906400	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:110903800-110908600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:110903800-110911200	Weak transcription	HMEC	breast
32	chr13:110904000-110904600	Enhancers	Fetal Muscle Trunk	muscle
33	chr13:110904000-110906400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:110904000-110906400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:110904000-110906400	Weak transcription	Aorta	Aorta
36	chr13:110904000-110907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr13:110904200-110904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:110904200-110906200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:110904200-110906200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:110904200-110906200	Weak transcription	HSMM	muscle
41	chr13:110904200-110906200	Weak transcription	HSMMtube	muscle
42	chr13:110904200-110906400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:110904200-110906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:110904200-110906400	Weak transcription	Placenta	Placenta
45	chr13:110904200-110906400	Weak transcription	Ovary	ovary
46	chr13:110904200-110906400	Weak transcription	Right Atrium	heart
47	chr13:110904200-110906400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr13:110904200-110906400	Weak transcription	NH-A	brain
49	chr13:110904200-110906400	Weak transcription	NHDF-Ad	bronchial
50	chr13:110904200-110906600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links