Variant report

Variant	esv16099
Chromosome Location	chr13:39982147-39983164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549363445	chr13:39982195-39982196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9566426	chr13:39982196-39982197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73173497	chr13:39982201-39982202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56328855	chr13:39982249-39982250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368852626	chr13:39982294-39982295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566166206	chr13:39982340-39982341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9566427	chr13:39982342-39982343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141062865	chr13:39982347-39982348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186866145	chr13:39982421-39982422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537480581	chr13:39982490-39982491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557375623	chr13:39982510-39982511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35166912	chr13:39982633-39982634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9566428	chr13:39982683-39982684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544802700	chr13:39982687-39982688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558336307	chr13:39982725-39982726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9566429	chr13:39982735-39982736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553396704	chr13:39982738-39982739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571894008	chr13:39982758-39982759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374701429	chr13:39982769-39982770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9576791	chr13:39982778-39982779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564269685	chr13:39982779-39982780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191740776	chr13:39982796-39982797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540175793	chr13:39982801-39982802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528833661	chr13:39982802-39982803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73456987	chr13:39982816-39982817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565730108	chr13:39982832-39982833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564333026	chr13:39982833-39982834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528684005	chr13:39982838-39982839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142691306	chr13:39982845-39982846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543877793	chr13:39982906-39982907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567548224	chr13:39982915-39982916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551940538	chr13:39982933-39982934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9576792	chr13:39982960-39982961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79147012	chr13:39982974-39982975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75014105	chr13:39982975-39982976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80297225	chr13:39982977-39982978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182782115	chr13:39982994-39982995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551265231	chr13:39982999-39983000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112611048	chr13:39983068-39983069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9603532	chr13:39983072-39983073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs544924730	chr13:39983095-39983096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532403682	chr13:39983113-39983114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9576793	chr13:39983132-39983133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:107)

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
Monoclonal gammopathy of undetermined significance	19135901	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
Congenital anomalies of the kidney and urinary tract	20467480	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
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39972800-39988600	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:39975800-39988400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:39975800-39988600	Weak transcription	Right Atrium	heart
4	chr13:39976200-39984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:39976600-39990600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:39977000-39987800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:39977200-39983800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:39977400-39983600	Weak transcription	Brain Hippocampus Middle	brain
9	chr13:39977600-39982600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr13:39977800-39984400	Weak transcription	Psoas Muscle	Psoas
11	chr13:39979400-39983600	Weak transcription	Fetal Brain Male	brain
12	chr13:39980000-39983600	Weak transcription	Brain Anterior Caudate	brain
13	chr13:39980000-39983600	Weak transcription	Fetal Lung	lung
14	chr13:39980000-39983800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:39980000-39983800	Weak transcription	NHDF-Ad	bronchial
16	chr13:39980000-39984000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:39980000-39984000	Weak transcription	NHLF	lung
18	chr13:39980200-39982400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:39980200-39983200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr13:39980200-39983200	Weak transcription	Brain Angular Gyrus	brain
21	chr13:39980200-39983600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr13:39980200-39983600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:39980200-39983800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:39980200-39984400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:39980200-39988600	Weak transcription	Fetal Stomach	stomach
26	chr13:39980400-39983600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr13:39980400-39983800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:39980400-39984400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:39980800-39984600	Weak transcription	HSMM	muscle
30	chr13:39981000-39983400	Enhancers	Left Ventricle	heart
31	chr13:39981400-39982600	Enhancers	Brain Cingulate Gyrus	brain
32	chr13:39981400-39991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:39981400-39991800	Weak transcription	NHEK	skin
34	chr13:39981600-39982400	Weak transcription	Brain Substantia Nigra	brain
35	chr13:39981600-39983000	Weak transcription	Right Ventricle	heart
36	chr13:39981600-39983600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:39981600-39983600	Weak transcription	HUVEC	blood vessel
38	chr13:39981600-39984200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:39981600-39985200	Weak transcription	Ovary	ovary
40	chr13:39981800-39983600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:39981800-39983600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr13:39981800-39988600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:39982000-39986600	Enhancers	Fetal Heart	heart
44	chr13:39982400-39982800	Enhancers	Brain Substantia Nigra	brain
45	chr13:39982400-39985200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:39982600-39983600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:39982600-39983600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr13:39982800-39983800	Weak transcription	Brain Substantia Nigra	brain
49	chr13:39983000-39983200	Weak transcription	Adipose Nuclei	Adipose
50	chr13:39983000-39985000	Enhancers	Right Ventricle	heart

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