Variant report

Variant	esv2483982
Chromosome Location	chr13:47688819-47690364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:47687420..47689651-chr13:47689739..47691291,2	K562	blood:
2	chr13:47687420..47689651-chr13:47689739..47691291,2	K562	blood:
3	chr13:47687158..47689535-chr13:47689573..47691245,2	MCF-7	breast:
4	chr13:47687158..47689535-chr13:47689573..47691245,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145785971	chr13:47688893-47688894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190959862	chr13:47688894-47688895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148181838	chr13:47688900-47688901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550816290	chr13:47688901-47688902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183933670	chr13:47688919-47688920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138614441	chr13:47688920-47688921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371906767	chr13:47688956-47688957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187774612	chr13:47688977-47688978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570808260	chr13:47688992-47688993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34919842	chr13:47689006-47689007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534907326	chr13:47689008-47689009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550978907	chr13:47689112-47689113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116993561	chr13:47689178-47689179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368983481	chr13:47689179-47689180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576408695	chr13:47689219-47689220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541982382	chr13:47689242-47689243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556798307	chr13:47689252-47689253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574944412	chr13:47689270-47689271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190641933	chr13:47689271-47689272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111330802	chr13:47689285-47689286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73178129	chr13:47689300-47689301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs8001526	chr13:47689357-47689358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540547518	chr13:47689410-47689411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75811050	chr13:47689438-47689439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529478395	chr13:47689458-47689459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551113838	chr13:47689471-47689472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569377108	chr13:47689484-47689485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533462612	chr13:47689491-47689492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551841202	chr13:47689492-47689493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566857090	chr13:47689493-47689494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534950138	chr13:47689494-47689495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182881498	chr13:47689495-47689496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142752282	chr13:47689498-47689499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150335556	chr13:47689499-47689500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548074070	chr13:47689509-47689510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111953556	chr13:47689544-47689545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111800216	chr13:47689547-47689548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113769429	chr13:47689561-47689562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112695652	chr13:47689566-47689567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570430109	chr13:47689634-47689635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200998025	chr13:47689787-47689788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140132475	chr13:47689790-47689791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568313431	chr13:47689802-47689803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200642980	chr13:47689832-47689833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535291056	chr13:47689840-47689841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372397898	chr13:47689857-47689858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557112992	chr13:47689947-47689948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79339269	chr13:47690009-47690010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187486419	chr13:47690047-47690048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77802353	chr13:47690048-47690049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
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
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
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
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
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
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
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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47683800-47695200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:47685600-47689200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr13:47685800-47694800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:47686400-47689200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:47686600-47695200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:47686800-47689200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:47686800-47689200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:47687000-47689600	Enhancers	NHDF-Ad	bronchial
9	chr13:47687400-47689200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:47687400-47693400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:47687600-47689000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:47687600-47691800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:47687800-47689000	Enhancers	Osteobl	bone
14	chr13:47688000-47689000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:47688200-47690000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:47688200-47691800	Weak transcription	K562	blood
17	chr13:47688200-47695800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr13:47688400-47693200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:47688600-47691400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr13:47688600-47691800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:47688600-47692600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:47688600-47693400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:47688600-47694000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:47688600-47694600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:47688600-47694600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:47688800-47693200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:47688800-47695600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:47689000-47691400	Weak transcription	Osteobl	bone
29	chr13:47689000-47691600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:47689200-47690000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:47689200-47691200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:47689200-47691200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:47689200-47691800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:47689200-47693200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:47689600-47690000	Weak transcription	NHDF-Ad	bronchial
36	chr13:47690000-47690400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:47690000-47690400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:47690000-47690400	Enhancers	Stomach Smooth Muscle	stomach
39	chr13:47690000-47692200	Enhancers	NHDF-Ad	bronchial
40	chr13:47690200-47690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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