Variant report

Variant	esv2760292
Chromosome Location	chr13:40122096-40125453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9576849	chr13:40122096-40122097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56065563	chr13:40122124-40122125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2324338	chr13:40122136-40122137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs540647897	chr13:40122150-40122151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564087996	chr13:40122174-40122175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142397618	chr13:40122179-40122180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138507776	chr13:40122221-40122222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375946289	chr13:40122223-40122224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151311943	chr13:40122271-40122272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139004422	chr13:40122310-40122311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570168537	chr13:40122342-40122343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529518772	chr13:40122375-40122376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140485609	chr13:40122404-40122405	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202225156	chr13:40122417-40122418	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566395633	chr13:40122498-40122499	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9576850	chr13:40122589-40122590	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150437655	chr13:40122594-40122595	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552325190	chr13:40122603-40122604	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75597658	chr13:40122612-40122613	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565948986	chr13:40122619-40122620	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138259825	chr13:40122653-40122654	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142353541	chr13:40122684-40122685	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574012718	chr13:40122710-40122711	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541639622	chr13:40122751-40122752	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146062501	chr13:40122755-40122756	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34983814	chr13:40122758-40122759	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79505034	chr13:40122803-40122804	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540911925	chr13:40122859-40122860	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11840298	chr13:40122863-40122864	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371059066	chr13:40122918-40122919	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536277775	chr13:40122926-40122927	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543010400	chr13:40122962-40122963	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189982948	chr13:40122980-40122981	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138937537	chr13:40123002-40123003	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73175200	chr13:40123005-40123006	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193158550	chr13:40123041-40123042	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185407649	chr13:40123055-40123056	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7333587	chr13:40123073-40123074	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs552051113	chr13:40123136-40123137	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112630514	chr13:40123192-40123193	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537465453	chr13:40123195-40123196	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190700053	chr13:40123213-40123214	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149336705	chr13:40123232-40123233	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114378365	chr13:40123257-40123258	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544789854	chr13:40123285-40123286	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111584396	chr13:40123288-40123289	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185016481	chr13:40123298-40123299	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113819036	chr13:40123316-40123317	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373885937	chr13:40123317-40123318	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9548807	chr13:40123319-40123320	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:55 , 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	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:40112000-40122400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:40113800-40128600	Weak transcription	Ovary	ovary
8	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:40114200-40125200	Weak transcription	HSMM	muscle
10	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:40115400-40133200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:40115600-40133600	Weak transcription	Osteobl	bone
13	chr13:40117000-40130000	Weak transcription	Fetal Muscle Leg	muscle
14	chr13:40117000-40130400	Weak transcription	HSMMtube	muscle
15	chr13:40117600-40126400	Weak transcription	Right Ventricle	heart
16	chr13:40117800-40128600	Weak transcription	Right Atrium	heart
17	chr13:40117800-40131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:40118000-40122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:40118200-40122600	Weak transcription	NHEK	skin
20	chr13:40118800-40126400	Weak transcription	Brain Substantia Nigra	brain
21	chr13:40119800-40130200	Weak transcription	Fetal Heart	heart
22	chr13:40120000-40122600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:40120000-40125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:40120000-40131600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:40120600-40122600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr13:40121200-40122400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:40121200-40125200	Weak transcription	Left Ventricle	heart
28	chr13:40121400-40136200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr13:40121600-40122400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr13:40121600-40122600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr13:40122400-40122600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr13:40122400-40123000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:40122400-40123000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:40122400-40123200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:40122600-40122800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr13:40122600-40122800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr13:40122600-40123200	Enhancers	HMEC	breast
38	chr13:40122600-40123400	Enhancers	NHEK	skin
39	chr13:40122600-40125200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:40123000-40125000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:40123000-40131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:40123200-40128600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:40123200-40128600	Weak transcription	HMEC	breast
44	chr13:40123800-40124000	Weak transcription	NHDF-Ad	bronchial
45	chr13:40124000-40124200	Enhancers	NHDF-Ad	bronchial
46	chr13:40124000-40126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:40124200-40126400	Weak transcription	NHDF-Ad	bronchial
48	chr13:40125000-40126400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:40125000-40131600	Weak transcription	Fetal Lung	lung
50	chr13:40125200-40125600	Enhancers	Left Ventricle	heart

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