Variant report

Variant	esv2421708
Chromosome Location	chr13:40118603-40125453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 265 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567790620	chr13:40118620-40118621	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12585463	chr13:40118625-40118626	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138811873	chr13:40118637-40118638	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145008792	chr13:40118650-40118651	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56362338	chr13:40118657-40118658	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558232881	chr13:40118676-40118677	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575325367	chr13:40118708-40118709	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543957756	chr13:40118722-40118723	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555185357	chr13:40118740-40118741	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574690855	chr13:40118745-40118746	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180877208	chr13:40118750-40118751	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560424945	chr13:40118769-40118770	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373888984	chr13:40118825-40118826	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148965298	chr13:40118851-40118852	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545818014	chr13:40118860-40118861	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2324337	chr13:40118864-40118865	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114057152	chr13:40118869-40118870	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544949200	chr13:40118918-40118919	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185335654	chr13:40118949-40118950	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369174164	chr13:40118979-40118980	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143652629	chr13:40118999-40119000	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565017383	chr13:40119033-40119034	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527509161	chr13:40119050-40119051	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138320255	chr13:40119052-40119053	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557819311	chr13:40119081-40119082	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566787454	chr13:40119096-40119097	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538907620	chr13:40119101-40119102	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558558997	chr13:40119102-40119103	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113347999	chr13:40119175-40119176	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537993197	chr13:40119180-40119181	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190020129	chr13:40119207-40119208	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182652007	chr13:40119243-40119244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540445226	chr13:40119251-40119252	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186709993	chr13:40119350-40119351	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11147766	chr13:40119361-40119362	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11619916	chr13:40119370-40119371	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35606384	chr13:40119382-40119383	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71080307	chr13:40119404-40119405	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9532397	chr13:40119410-40119411	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546161036	chr13:40119425-40119426	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115909666	chr13:40119432-40119433	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9532398	chr13:40119478-40119479	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34864255	chr13:40119623-40119624	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567368954	chr13:40119679-40119680	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77020786	chr13:40119691-40119692	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373341515	chr13:40119726-40119727	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527751495	chr13:40119729-40119730	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546837986	chr13:40119806-40119807	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117778512	chr13:40119811-40119812	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528731152	chr13:40119815-40119816	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	17146433	CNVD
Malignant glioma	17146433	CNVD
Sudden cardiac death	19188705	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40106800-40124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
4	chr13:40111400-40128200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:40111600-40120600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:40112000-40122400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:40113800-40128600	Weak transcription	Ovary	ovary
9	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:40114200-40125200	Weak transcription	HSMM	muscle
11	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:40115400-40133200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:40115600-40120800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr13:40115600-40133600	Weak transcription	Osteobl	bone
15	chr13:40115800-40120600	Weak transcription	Left Ventricle	heart
16	chr13:40117000-40119600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:40117000-40130000	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:40117000-40130400	Weak transcription	HSMMtube	muscle
19	chr13:40117200-40119200	Enhancers	Fetal Heart	heart
20	chr13:40117600-40126400	Weak transcription	Right Ventricle	heart
21	chr13:40117800-40120000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:40117800-40128600	Weak transcription	Right Atrium	heart
23	chr13:40117800-40131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:40118000-40122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:40118200-40122600	Weak transcription	NHEK	skin
26	chr13:40118600-40118800	Enhancers	Brain Substantia Nigra	brain
27	chr13:40118800-40126400	Weak transcription	Brain Substantia Nigra	brain
28	chr13:40119200-40119600	Weak transcription	Fetal Heart	heart
29	chr13:40119400-40120000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:40119600-40119800	Enhancers	Fetal Heart	heart
31	chr13:40119600-40120000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:40119800-40130200	Weak transcription	Fetal Heart	heart
33	chr13:40120000-40122600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:40120000-40125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:40120000-40131600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:40120400-40121600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr13:40120600-40121200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:40120600-40121200	Enhancers	Left Ventricle	heart
39	chr13:40120600-40121600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:40120600-40122600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr13:40120800-40121200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr13:40120800-40121400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:40120800-40121600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr13:40120800-40121600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr13:40121000-40121800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr13:40121200-40122400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:40121200-40125200	Weak transcription	Left Ventricle	heart
48	chr13:40121400-40136200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:40121600-40122400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr13:40121600-40122600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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