Variant report

Variant	nsv1044417
Chromosome Location	chr13:86239152-86344862
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:86279490..86281664-chr13:86283799..86286531,3	MCF-7	breast:
2	chr13:86279490..86281664-chr13:86283799..86286531,3	MCF-7	breast:
3	chr13:86281640..86283292-chr13:86288920..86291298,2	MCF-7	breast:
4	chr13:86281640..86283292-chr13:86288920..86291298,2	MCF-7	breast:
5	chr13:86315676..86316552-chr3:64273618..64274256,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-30	chr13:86270269-86270344	NONHSAT034569
2	lnc-SLITRK5-30	chr13:86240824-86240895	NONHSAT034569
3	lnc-SLITRK5-30	chr13:86250665-86250748	NONHSAT034569

No data

Extended variants
information (count: 4387 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:4387 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1337260	chr13:86239152-86239153	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541318704	chr13:86239175-86239176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370258364	chr13:86239203-86239204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149960322	chr13:86239300-86239301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535936883	chr13:86239306-86239307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554406349	chr13:86239308-86239309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572778469	chr13:86239344-86239345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549952240	chr13:86239408-86239409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539873364	chr13:86239569-86239570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544225018	chr13:86239581-86239582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375033670	chr13:86239590-86239591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571757725	chr13:86239629-86239630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145083864	chr13:86239643-86239644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544522257	chr13:86239712-86239713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367928372	chr13:86239754-86239755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149098138	chr13:86239824-86239825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529956655	chr13:86239828-86239829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542329627	chr13:86239860-86239861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543246362	chr13:86239910-86239911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560409773	chr13:86239927-86239928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186050799	chr13:86239975-86239976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552254835	chr13:86239980-86239981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147905889	chr13:86239994-86239995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540480991	chr13:86240007-86240008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190026109	chr13:86240028-86240029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145923329	chr13:86240038-86240039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72629565	chr13:86240042-86240043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568303609	chr13:86240059-86240060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141250720	chr13:86240096-86240097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146944894	chr13:86240182-86240183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535585231	chr13:86240187-86240188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1538065	chr13:86240291-86240292	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs137915589	chr13:86240294-86240295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182656971	chr13:86240333-86240334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544813217	chr13:86240402-86240403	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576962183	chr13:86240427-86240428	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568282187	chr13:86240447-86240448	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186531384	chr13:86240459-86240460	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556532748	chr13:86240483-86240484	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574664906	chr13:86240485-86240486	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1538064	chr13:86240489-86240490	Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553993480	chr13:86240490-86240491	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368285482	chr13:86240491-86240492	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192757104	chr13:86240516-86240517	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572409189	chr13:86240552-86240553	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560941475	chr13:86240566-86240567	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1538063	chr13:86240590-86240591	Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1538062	chr13:86240611-86240612	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550043591	chr13:86240614-86240615	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs118094051	chr13:86240641-86240642	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86235800-86239400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:86237800-86239200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:86238000-86240600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:86238600-86239200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr13:86239000-86239400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:86239000-86239800	Enhancers	A549	lung
7	chr13:86239200-86239600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:86239200-86239600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:86239200-86239600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:86239200-86240200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:86239200-86240600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:86239200-86240800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:86239400-86239800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:86239400-86239800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:86239400-86239800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:86239400-86240400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:86239400-86240600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:86239400-86240600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:86239400-86240800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:86240200-86240800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr13:86240400-86240600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:86240600-86240800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:86240600-86241000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:86240600-86241200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr13:86240600-86241600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr13:86240800-86242000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr13:86240800-86249400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:86241000-86242200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:86241200-86241800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr13:86241600-86241800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr13:86241600-86242000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr13:86241800-86242000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr13:86242800-86243000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr13:86245400-86245800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:86245600-86246200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:86249400-86249800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:86249400-86250600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:86249800-86269800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:86268000-86268200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:86268000-86268400	Active TSS	A549	lung
41	chr13:86268000-86268600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr13:86268000-86269200	Enhancers	Primary hematopoietic stem cells	blood
43	chr13:86268000-86269400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:86268200-86268400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:86268200-86268400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr13:86268200-86268400	Enhancers	Esophagus	oesophagus
47	chr13:86268200-86268600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:86268200-86268600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr13:86268200-86268600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:86268200-86268600	Enhancers	Primary monocytes fromperipheralblood	blood

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