Variant report

Variant	esv3324454
Chromosome Location	chr13:40135777-40137800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9548823	chr13:40135799-40135800	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536472872	chr13:40135826-40135827	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375503616	chr13:40135909-40135910	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553517228	chr13:40135910-40135911	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368545617	chr13:40135914-40135915	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573499952	chr13:40135940-40135941	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7996238	chr13:40135976-40135977	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs565192818	chr13:40136022-40136023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72623303	chr13:40136040-40136041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7981205	chr13:40136075-40136076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532941461	chr13:40136101-40136102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115749560	chr13:40136121-40136122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530190089	chr13:40136139-40136140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371778723	chr13:40136165-40136166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546363922	chr13:40136204-40136205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74046556	chr13:40136216-40136217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7981547	chr13:40136247-40136248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551708972	chr13:40136300-40136301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571532895	chr13:40136328-40136329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9576862	chr13:40136387-40136388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535364499	chr13:40136464-40136465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569156725	chr13:40136486-40136487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78474860	chr13:40136496-40136497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79626092	chr13:40136498-40136499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143260257	chr13:40136499-40136500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201827162	chr13:40136504-40136505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75566072	chr13:40136510-40136511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76508550	chr13:40136512-40136513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71423198	chr13:40136514-40136515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201266230	chr13:40136518-40136519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202165733	chr13:40136520-40136521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370629320	chr13:40136525-40136526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75578025	chr13:40136526-40136527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74693374	chr13:40136528-40136529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76932861	chr13:40136530-40136531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111450691	chr13:40136534-40136535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78270250	chr13:40136538-40136539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374340834	chr13:40136543-40136544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60704297	chr13:40136545-40136546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58218113	chr13:40136546-40136547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200973055	chr13:40136552-40136553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57863254	chr13:40136553-40136554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111556370	chr13:40136554-40136555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57302247	chr13:40136559-40136560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200043599	chr13:40136560-40136561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72230053	chr13:40136561-40136562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200853716	chr13:40136562-40136563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150865335	chr13:40136581-40136582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370969648	chr13:40136583-40136584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371650016	chr13:40136585-40136586	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:40121400-40136200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:40126400-40137200	Weak transcription	NHLF	lung
5	chr13:40127000-40136200	Weak transcription	NHDF-Ad	bronchial
6	chr13:40128800-40137600	Weak transcription	Colon Smooth Muscle	Colon
7	chr13:40129000-40145600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:40129000-40152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:40129200-40135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:40129200-40135800	Weak transcription	HMEC	breast
11	chr13:40129400-40136800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:40130000-40139600	Weak transcription	Fetal Stomach	stomach
13	chr13:40131000-40138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:40131000-40138600	Weak transcription	Adipose Nuclei	Adipose
15	chr13:40131200-40137600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:40131600-40137400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:40132000-40136200	Weak transcription	HSMM	muscle
18	chr13:40132200-40136200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:40132200-40145600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr13:40132400-40135800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:40132400-40137600	Weak transcription	Fetal Lung	lung
22	chr13:40133400-40136800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr13:40133600-40137400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:40133600-40137600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr13:40133800-40137000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:40133800-40137400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr13:40133800-40137600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:40133800-40138000	Weak transcription	Aorta	Aorta
29	chr13:40133800-40138200	Weak transcription	Brain Substantia Nigra	brain
30	chr13:40134000-40139400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:40134200-40137000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:40134200-40137200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:40134200-40139800	Weak transcription	Fetal Muscle Leg	muscle
34	chr13:40134400-40137000	Weak transcription	Fetal Heart	heart
35	chr13:40134400-40137400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:40134400-40137600	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:40134600-40136800	Weak transcription	Osteobl	bone
38	chr13:40135000-40136000	Enhancers	Ovary	ovary
39	chr13:40135200-40135800	Enhancers	Lung	lung
40	chr13:40135200-40136000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:40135200-40136400	Enhancers	Right Ventricle	heart
42	chr13:40135200-40137400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:40135400-40136200	Weak transcription	HSMMtube	muscle
44	chr13:40135400-40138000	Weak transcription	Left Ventricle	heart
45	chr13:40135400-40139600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:40135400-40139800	Weak transcription	Right Atrium	heart
47	chr13:40135600-40136400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:40135600-40137000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:40135800-40137800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:40135800-40139200	Enhancers	NHEK	skin

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