Variant report

Variant	nsv562728
Chromosome Location	chr13:93142706-93208593
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:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92839375..92840322-chr13:93182374..93183100,3	MCF-7	breast:
2	chr13:93188469..93192072-chr13:93192259..93196384,5	K562	blood:
3	chr13:93164068..93165858-chr13:93167124..93168943,2	K562	blood:
4	chr13:93188720..93192275-chr13:93193713..93196877,3	K562	blood:
5	chr13:93193686..93196509-chr13:93200416..93203528,3	K562	blood:
6	chr13:93175770..93178293-chr13:93185133..93187097,2	K562	blood:
7	chr13:93175770..93178293-chr13:93185133..93187097,2	K562	blood:
8	chr13:93142214..93145104-chr13:93152778..93154703,2	K562	blood:
9	chr13:93142513..93146637-chr13:93148342..93150196,3	K562	blood:
10	chr13:93194848..93196683-chr13:93226882..93229093,2	K562	blood:
11	chr13:93193686..93196509-chr13:93200416..93203528,3	K562	blood:
12	chr13:93188720..93192275-chr13:93193713..93196877,3	K562	blood:
13	chr13:93181636..93184594-chr13:93227863..93230266,2	K562	blood:
14	chr13:93188469..93192072-chr13:93192259..93196384,5	K562	blood:
15	chr13:93187246..93189629-chr13:93231804..93233615,2	K562	blood:
16	chr13:93142513..93146637-chr13:93148342..93150196,3	K562	blood:
17	chr13:93164068..93165858-chr13:93167124..93168943,2	K562	blood:
18	chr13:93141901..93144013-chr13:93148357..93150275,2	K562	blood:
19	chr13:93208360..93208885-chr15:100314006..100314703,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-2	chr13:93161766-93162347	ENSG00000236240.1

No data

Variant related genes	Relation type
ENSG00000263741	chromatin interactions

Extended variants
information (count: 1043 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6492611	chr13:93142706-93142707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570468491	chr13:93142747-93142748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77962092	chr13:93142782-93142783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570334096	chr13:93142785-93142786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183292800	chr13:93142790-93142791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369178915	chr13:93148401-93148402	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185633412	chr13:93148416-93148417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545928395	chr13:93148430-93148431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144765907	chr13:93148494-93148495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555976547	chr13:93148518-93148519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148560895	chr13:93148529-93148530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533509749	chr13:93148545-93148546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547690100	chr13:93148575-93148576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570722756	chr13:93148579-93148580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114220595	chr13:93148618-93148619	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556420307	chr13:93148645-93148646	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576301098	chr13:93148649-93148650	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535992996	chr13:93148681-93148682	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12875564	chr13:93148685-93148686	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373800009	chr13:93148753-93148754	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572542105	chr13:93148829-93148830	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181004082	chr13:93148876-93148877	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185666259	chr13:93148889-93148890	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142099836	chr13:93148892-93148893	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543706382	chr13:93148902-93148903	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146700293	chr13:93148917-93148918	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190430959	chr13:93148919-93148920	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140307830	chr13:93148989-93148990	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561598105	chr13:93149065-93149066	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9523687	chr13:93149094-93149095	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539144478	chr13:93149114-93149115	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181284529	chr13:93149118-93149119	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535180879	chr13:93149167-93149168	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185930560	chr13:93149286-93149287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550090034	chr13:93149312-93149313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143977233	chr13:93149319-93149320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535248013	chr13:93149335-93149336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555846034	chr13:93149384-93149385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77002187	chr13:93149408-93149409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531809955	chr13:93149437-93149438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566077426	chr13:93149440-93149441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190726193	chr13:93149461-93149462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557777900	chr13:93149466-93149467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183976317	chr13:93149481-93149482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376476789	chr13:93149488-93149489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7981224	chr13:93149489-93149490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61847371	chr13:93149499-93149500	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557187242	chr13:93149579-93149580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549421829	chr13:93149598-93149599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542818177	chr13:93149608-93149609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Small bowel adenocarcinoma	21586687	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
Metanephric adenoma	20802469	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93142600-93142800	Enhancers	Brain Germinal Matrix	brain
2	chr13:93148600-93149200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:93148800-93149200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr13:93148800-93149200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:93148800-93149200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:93149200-93150400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:93149200-93152400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr13:93150400-93150600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:93150400-93151000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:93152200-93153000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:93152400-93153000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:93152400-93153000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:93152400-93153200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:93152400-93153200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:93152400-93153600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:93152800-93153000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr13:93152800-93153200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:93153000-93160200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr13:93156800-93157000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:93157000-93165200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:93160200-93160400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:93160600-93164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:93161200-93161800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:93161800-93162800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:93162000-93163600	Enhancers	NHEK	skin
26	chr13:93162400-93163200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:93162600-93163000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:93162600-93163000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:93162600-93163000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:93162600-93163200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr13:93162600-93163200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:93162600-93163200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:93162600-93163200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:93162600-93163200	Enhancers	HMEC	breast
35	chr13:93162600-93163200	Enhancers	NH-A	brain
36	chr13:93162800-93163200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:93162800-93163200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:93162800-93163200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:93162800-93163400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr13:93163000-93163200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:93163200-93164200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:93163200-93164400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:93163200-93165000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:93163200-93165200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:93163200-93165200	Weak transcription	NH-A	brain
46	chr13:93163200-93166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:93163600-93164000	Weak transcription	NHEK	skin
48	chr13:93164000-93164200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:93164000-93164200	Enhancers	NHEK	skin
50	chr13:93164200-93165200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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