Variant report

Variant	esv3386665
Chromosome Location	chr13:30760452-30764350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30760581..30762539-chr13:30772437..30773991,2	K562	blood:

Extended variants
information (count: 169 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs564156506	chr13:30760496-30760497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190121477	chr13:30760518-30760519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562501305	chr13:30760542-30760543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61946891	chr13:30760551-30760552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551231922	chr13:30760552-30760553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565009174	chr13:30760553-30760554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527513224	chr13:30760567-30760568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181825885	chr13:30760593-30760594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536767795	chr13:30760654-30760655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536309231	chr13:30760675-30760676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187290502	chr13:30760692-30760693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549814305	chr13:30760700-30760701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369120115	chr13:30760746-30760747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76467984	chr13:30760747-30760748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532793790	chr13:30760763-30760764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117616669	chr13:30760792-30760793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558458632	chr13:30760797-30760798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578175837	chr13:30760835-30760836	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148814756	chr13:30760848-30760849	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112406128	chr13:30760849-30760850	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573805834	chr13:30760856-30760857	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192108703	chr13:30760919-30760920	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs17074409	chr13:30761027-30761028	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs180836727	chr13:30761046-30761047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544984147	chr13:30761055-30761056	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143457032	chr13:30761096-30761097	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184898599	chr13:30761150-30761151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs17589482	chr13:30761173-30761174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs189758675	chr13:30761180-30761181	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201984677	chr13:30761187-30761188	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553199339	chr13:30761204-30761205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4002027	chr13:30761205-30761206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375114932	chr13:30761206-30761207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72026292	chr13:30761215-30761216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397699129	chr13:30761225-30761226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4479085	chr13:30761329-30761330	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557201949	chr13:30761339-30761340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529831908	chr13:30761360-30761361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2388500	chr13:30761378-30761379	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566009468	chr13:30761382-30761383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569747946	chr13:30761401-30761402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538673234	chr13:30761405-30761406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551876810	chr13:30761430-30761431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34275933	chr13:30761450-30761451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571955953	chr13:30761456-30761457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543952753	chr13:30761516-30761517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543365839	chr13:30761539-30761540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565261349	chr13:30761543-30761544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554360282	chr13:30761577-30761578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568475937	chr13:30761669-30761670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	17440070	CNVD
Cancer	17440070	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30747600-30766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:30754000-30761000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:30754000-30798800	Weak transcription	Brain Anterior Caudate	brain
4	chr13:30754200-30760800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:30755200-30766600	Weak transcription	Fetal Kidney	kidney
6	chr13:30756600-30760800	Weak transcription	Thymus	Thymus
7	chr13:30756600-30764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:30757600-30774200	Weak transcription	Left Ventricle	heart
9	chr13:30759800-30761800	Enhancers	Fetal Thymus	thymus
10	chr13:30760000-30760800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:30760000-30761800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:30760000-30761800	Enhancers	Fetal Brain Female	brain
13	chr13:30760400-30761800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:30760400-30762000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr13:30760600-30761200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:30760600-30761200	Enhancers	Fetal Intestine Small	intestine
17	chr13:30760600-30761600	Enhancers	Primary T cells from cord blood	blood
18	chr13:30760600-30761600	Enhancers	Fetal Brain Male	brain
19	chr13:30760600-30762200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:30760800-30761200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:30760800-30761400	Enhancers	Thymus	Thymus
22	chr13:30760800-30761600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:30760800-30761800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:30760800-30781800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:30761000-30761200	Enhancers	Brain Substantia Nigra	brain
26	chr13:30761000-30761400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr13:30761000-30761400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr13:30761000-30761800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:30761200-30761600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr13:30761200-30761800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:30761200-30765200	Weak transcription	Fetal Intestine Small	intestine
32	chr13:30761200-30769800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:30761400-30761800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr13:30761400-30769400	Weak transcription	Thymus	Thymus
35	chr13:30761600-30765200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:30761600-30769400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:30761600-30792800	Weak transcription	Fetal Brain Male	brain
38	chr13:30761800-30769400	Weak transcription	Fetal Brain Female	brain
39	chr13:30761800-30769800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr13:30761800-30769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:30762000-30770800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr13:30763400-30781600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:30763600-30786400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:30763800-30765400	Weak transcription	Aorta	Aorta
45	chr13:30763800-30778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:30764000-30775400	Weak transcription	Adipose Nuclei	Adipose

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