Variant report

Variant	nsv900940
Chromosome Location	chr13:98225221-98281637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:98276085..98278084-chr13:98280118..98282767,2	K562	blood:
2	chr13:97683038..97683860-chr13:98226892..98227588,2	MCF-7	breast:
3	chr13:98240997..98241729-chr13:98311645..98312458,2	MCF-7	breast:
4	chr13:98276085..98278084-chr13:98280118..98282767,2	K562	blood:

Extended variants
information (count: 1478 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1478 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12870589	chr13:98225221-98225222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60233881	chr13:98225231-98225232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567291384	chr13:98225244-98225245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372693420	chr13:98225262-98225263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572377249	chr13:98225269-98225270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534954673	chr13:98225279-98225280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9516962	chr13:98225306-98225307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143444248	chr13:98225354-98225355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147157676	chr13:98225377-98225378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113665536	chr13:98225394-98225395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185237379	chr13:98225432-98225433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139508542	chr13:98225474-98225475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60276769	chr13:98225484-98225485	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567142118	chr13:98225551-98225552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558883122	chr13:98225556-98225557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149700315	chr13:98225683-98225684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9516963	chr13:98225757-98225758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547803033	chr13:98225766-98225767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564785775	chr13:98225794-98225795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9556752	chr13:98225892-98225893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550320761	chr13:98225893-98225894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377673022	chr13:98225895-98225896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570164132	chr13:98225909-98225910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565355075	chr13:98225958-98225959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575798453	chr13:98226034-98226035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9513256	chr13:98226037-98226038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566128202	chr13:98226052-98226053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534997882	chr13:98226065-98226066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190043886	chr13:98226075-98226076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577836650	chr13:98226090-98226091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7981655	chr13:98226122-98226123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183836395	chr13:98226128-98226129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139282816	chr13:98226144-98226145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573410956	chr13:98226171-98226172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542354964	chr13:98226239-98226240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7983284	chr13:98226257-98226258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144784261	chr13:98226267-98226268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543837398	chr13:98226268-98226269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544953032	chr13:98226279-98226280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564646285	chr13:98226309-98226310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149137872	chr13:98226318-98226319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386380348	chr13:98226325-98226326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398117796	chr13:98226327-98226328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58921982	chr13:98226328-98226329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9556753	chr13:98226330-98226331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9556754	chr13:98226336-98226337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9556755	chr13:98226337-98226338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9556756	chr13:98226338-98226339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117553619	chr13:98226353-98226354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560133615	chr13:98226379-98226380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98221400-98234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:98222600-98229200	Weak transcription	HepG2	liver
3	chr13:98224600-98225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:98225000-98225600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:98225000-98225600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:98225000-98225800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:98225200-98225400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr13:98225200-98225400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:98225200-98225400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:98225200-98225400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:98225200-98225400	Enhancers	Fetal Lung	lung
12	chr13:98225200-98225600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:98225200-98225600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:98225200-98225600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:98225200-98225600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:98225200-98225600	Enhancers	Fetal Intestine Small	intestine
17	chr13:98225200-98225800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:98225200-98225800	Enhancers	NHDF-Ad	bronchial
19	chr13:98225200-98226000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:98225400-98225600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:98225400-98226000	Enhancers	Brain Germinal Matrix	brain
22	chr13:98225600-98227200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:98225600-98227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:98225600-98232000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:98226000-98227800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:98227400-98227600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr13:98227800-98228000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:98227800-98228400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:98228400-98229000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:98229000-98229800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:98229200-98229600	Enhancers	HepG2	liver
32	chr13:98229600-98232400	Weak transcription	HepG2	liver
33	chr13:98229800-98231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:98231000-98231400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:98232000-98232200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:98232000-98232600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:98232200-98234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:98232400-98233600	Enhancers	HepG2	liver
39	chr13:98232600-98233600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:98232600-98234800	Enhancers	Fetal Intestine Small	intestine
41	chr13:98232600-98237400	Enhancers	Fetal Intestine Large	intestine
42	chr13:98233000-98234600	Enhancers	Liver	Liver
43	chr13:98233600-98233800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:98233600-98233800	Flanking Active TSS	HepG2	liver
45	chr13:98233800-98234000	Enhancers	HepG2	liver
46	chr13:98233800-98234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:98234000-98234200	Flanking Active TSS	HepG2	liver
48	chr13:98234000-98234400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr13:98234000-98235000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr13:98234200-98234400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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