Variant report

Variant	nsv455877
Chromosome Location	chr13:47701640-47728087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:47727446..47730598-chr13:47731381..47734178,3	K562	blood:
2	chr13:47712396..47715978-chr13:47716574..47719622,3	MCF-7	breast:
3	chr13:47706790..47708883-chr13:47727312..47729082,2	K562	blood:
4	chr13:47692441..47695148-chr13:47703321..47704866,2	K562	blood:
5	chr13:47712396..47715978-chr13:47716574..47719622,3	MCF-7	breast:
6	chr13:47700321..47702720-chr13:47703664..47706083,2	K562	blood:
7	chr13:47701741..47704253-chr13:47706076..47708066,2	K562	blood:
8	chr13:47701741..47704253-chr13:47706076..47708066,2	K562	blood:
9	chr13:47695726..47697865-chr13:47714799..47717283,2	K562	blood:
10	chr13:47700321..47702720-chr13:47703664..47706083,2	K562	blood:
11	chr13:47706790..47708883-chr13:47727312..47729082,2	K562	blood:

No data

Extended variants
information (count: 872 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9526275	chr13:47701640-47701641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192938054	chr13:47701651-47701652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370187351	chr13:47701680-47701681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34450892	chr13:47701685-47701686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200980863	chr13:47701689-47701690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386379086	chr13:47701692-47701693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558943603	chr13:47701760-47701761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539159996	chr13:47701869-47701870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534986773	chr13:47701872-47701873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553783441	chr13:47701893-47701894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147088854	chr13:47701896-47701897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs60664877	chr13:47701897-47701898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373730757	chr13:47701955-47701956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372465634	chr13:47701968-47701969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9567788	chr13:47701974-47701975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57467903	chr13:47701997-47701998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529355345	chr13:47701998-47701999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs398056365	chr13:47702006-47702007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375784583	chr13:47702090-47702091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542892391	chr13:47702091-47702092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554784561	chr13:47702098-47702099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185432389	chr13:47702110-47702111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112377550	chr13:47702131-47702132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543171888	chr13:47702202-47702203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564965242	chr13:47702210-47702211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532016178	chr13:47702246-47702247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113664269	chr13:47702329-47702330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540982364	chr13:47702346-47702347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559662793	chr13:47702437-47702438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2567676	chr13:47702469-47702470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2802406	chr13:47702475-47702476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540083407	chr13:47702480-47702481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569899635	chr13:47702500-47702501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368009875	chr13:47702512-47702513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370671314	chr13:47702519-47702520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74072716	chr13:47702557-47702558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76127267	chr13:47702631-47702632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148269905	chr13:47702632-47702633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77829008	chr13:47702671-47702672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141431898	chr13:47702689-47702690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542866834	chr13:47702756-47702757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189905786	chr13:47702771-47702772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536537200	chr13:47702772-47702773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34964590	chr13:47702847-47702848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79627356	chr13:47702870-47702871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562147743	chr13:47702873-47702874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576330102	chr13:47702874-47702875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370788077	chr13:47702903-47702904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72072797	chr13:47702904-47702905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191943539	chr13:47702907-47702908	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47701200-47705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:47701400-47703200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:47701600-47702800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:47702600-47702800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:47702600-47703400	Enhancers	K562	blood
6	chr13:47702800-47705000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:47703200-47703400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:47703200-47703400	Enhancers	Fetal Muscle Leg	muscle
9	chr13:47703200-47703800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:47703200-47705200	Enhancers	Primary hematopoietic stem cells	blood
11	chr13:47703400-47703800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:47703400-47704400	Enhancers	Stomach Smooth Muscle	stomach
13	chr13:47703800-47704400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr13:47703800-47705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:47703800-47706800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:47704000-47704800	Enhancers	Fetal Stomach	stomach
17	chr13:47704200-47704400	Enhancers	Fetal Muscle Leg	muscle
18	chr13:47705000-47706600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr13:47705200-47706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:47705200-47706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:47706400-47707600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:47706600-47707400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:47706600-47707600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr13:47706800-47707400	Enhancers	NHDF-Ad	bronchial
25	chr13:47706800-47707800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:47706800-47707800	Enhancers	Fetal Kidney	kidney
27	chr13:47707000-47707600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr13:47707000-47707800	Enhancers	Fetal Lung	lung
29	chr13:47707800-47709800	Weak transcription	Fetal Kidney	kidney
30	chr13:47709600-47711800	Enhancers	Liver	Liver
31	chr13:47709800-47711000	Enhancers	Fetal Kidney	kidney
32	chr13:47710000-47710400	Enhancers	Pancreas	Pancrea
33	chr13:47710000-47711400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr13:47710000-47711600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr13:47710200-47710600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr13:47710200-47711200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr13:47710200-47711600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr13:47710200-47711600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr13:47710400-47711200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr13:47710400-47711400	Weak transcription	Pancreas	Pancrea
41	chr13:47710400-47712000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr13:47710600-47711600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr13:47710800-47711400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr13:47711000-47711600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:47711200-47713800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr13:47711400-47712000	Enhancers	Pancreas	Pancrea
47	chr13:47711400-47713600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr13:47711600-47713600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr13:47712000-47725800	Weak transcription	Pancreas	Pancrea
50	chr13:47713600-47714000	Enhancers	HUES48 Cell Line	embryonic stem cell

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