Variant report

Variant	nsv1140
Chromosome Location	chr13:98233230-98278197
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	chr13:98240997..98241729-chr13:98311645..98312458,2	MCF-7	breast:
2	chr13:98276085..98278084-chr13:98280118..98282767,2	K562	blood:

Extended variants
information (count: 1080 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529325355	chr13:98233243-98233244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549310964	chr13:98233250-98233251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115772256	chr13:98233293-98233294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369047193	chr13:98233332-98233333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549374603	chr13:98233339-98233340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187354382	chr13:98233346-98233347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190655235	chr13:98233407-98233408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574191290	chr13:98233411-98233412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73564148	chr13:98233444-98233445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536836084	chr13:98233452-98233453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1854225	chr13:98233515-98233516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115924560	chr13:98233616-98233617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554703618	chr13:98233622-98233623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532034060	chr13:98233713-98233714	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542219974	chr13:98233715-98233716	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552971604	chr13:98233738-98233739	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574683151	chr13:98233757-98233758	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs572746922	chr13:98233758-98233759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182911216	chr13:98233795-98233796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs564608986	chr13:98233803-98233804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533581194	chr13:98233806-98233807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186833824	chr13:98233822-98233823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2389861	chr13:98233875-98233876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375147428	chr13:98233881-98233882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57437426	chr13:98233904-98233905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370463421	chr13:98233905-98233906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563774463	chr13:98233909-98233910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529364784	chr13:98233921-98233922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549202153	chr13:98233938-98233939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566113372	chr13:98233954-98233955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528455001	chr13:98233977-98233978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551688440	chr13:98233980-98233981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111683872	chr13:98234017-98234018	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs571177663	chr13:98234018-98234019	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536871736	chr13:98234044-98234045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113263424	chr13:98234065-98234066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs567032838	chr13:98234066-98234067	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs9516968	chr13:98234068-98234069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372763221	chr13:98234135-98234136	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs111610545	chr13:98234148-98234149	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536391842	chr13:98234161-98234162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552769873	chr13:98234162-98234163	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571965570	chr13:98234186-98234187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572828668	chr13:98234235-98234236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192744314	chr13:98234289-98234290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558446443	chr13:98234290-98234291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184297772	chr13:98234329-98234330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544038319	chr13:98234346-98234347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141299991	chr13:98234361-98234362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574282702	chr13:98234385-98234386	Enhancers	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98221400-98234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:98232200-98234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:98232400-98233600	Enhancers	HepG2	liver
4	chr13:98232600-98233600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:98232600-98234800	Enhancers	Fetal Intestine Small	intestine
6	chr13:98232600-98237400	Enhancers	Fetal Intestine Large	intestine
7	chr13:98233000-98234600	Enhancers	Liver	Liver
8	chr13:98233600-98233800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:98233600-98233800	Flanking Active TSS	HepG2	liver
10	chr13:98233800-98234000	Enhancers	HepG2	liver
11	chr13:98233800-98234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:98234000-98234200	Flanking Active TSS	HepG2	liver
13	chr13:98234000-98234400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:98234000-98235000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr13:98234200-98234400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:98234200-98234600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:98234200-98235200	Enhancers	HepG2	liver
18	chr13:98234200-98237400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:98234400-98235800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:98234400-98235800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:98234800-98235800	Weak transcription	Fetal Intestine Small	intestine
22	chr13:98235000-98236000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:98235200-98235600	Weak transcription	HepG2	liver
24	chr13:98235600-98237800	Enhancers	HepG2	liver
25	chr13:98235800-98236000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr13:98235800-98236200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:98235800-98236600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:98235800-98237400	Enhancers	Fetal Intestine Small	intestine
29	chr13:98236000-98236200	Enhancers	Pancreas	Pancrea
30	chr13:98236000-98236400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr13:98236000-98237800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr13:98236200-98237000	Enhancers	Fetal Heart	heart
33	chr13:98236200-98237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:98236600-98237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:98237000-98237200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:98237000-98237600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:98237000-98238000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:98237000-98240200	Weak transcription	Fetal Heart	heart
39	chr13:98237200-98237600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr13:98237200-98238000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:98237400-98239000	Weak transcription	Fetal Intestine Large	intestine
42	chr13:98239200-98239400	Enhancers	Fetal Intestine Large	intestine
43	chr13:98249800-98250800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr13:98249800-98251000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr13:98250200-98251000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr13:98250800-98251000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:98252600-98253200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:98252600-98253200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:98252600-98253600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:98252800-98253000	Active TSS	A549	lung

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