Variant report

Variant	nsv1053048
Chromosome Location	chr13:92421721-92501558
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:35)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91996442..92000452-chr13:92423521..92427515,3	K562	blood:
2	chr13:91999549..92001296-chr13:92427143..92429211,2	K562	blood:
3	chr13:92028892..92031114-chr13:92432989..92434969,2	K562	blood:
4	chr13:92408850..92411747-chr13:92422307..92426184,4	K562	blood:
5	chr13:92448522..92450690-chr15:34895323..34897374,2	K562	blood:
6	chr13:92338961..92341299-chr13:92468919..92471382,2	K562	blood:
7	chr13:92001069..92003885-chr13:92432371..92435271,2	K562	blood:
8	chr13:92058845..92059502-chr13:92434132..92434731,2	MCF-7	breast:
9	chr13:92291902..92294855-chr13:92469701..92472559,2	K562	blood:
10	chr13:92464505..92466650-chr13:92470454..92472788,2	K562	blood:
11	chr13:92022295..92024727-chr13:92447599..92449200,2	K562	blood:
12	chr13:92349578..92351977-chr13:92437335..92438959,2	K562	blood:
13	chr13:92464505..92466650-chr13:92470454..92472788,2	K562	blood:
14	chr13:92430631..92432524-chr13:92439233..92440764,2	K562	blood:
15	chr13:91998535..92001268-chr13:92468179..92469811,2	K562	blood:
16	chr13:92008654..92011622-chr13:92423601..92425301,2	K562	blood:
17	chr13:92414642..92418617-chr13:92420339..92423769,4	K562	blood:
18	chr13:92430631..92432524-chr13:92439233..92440764,2	K562	blood:
19	chr13:92409879..92412043-chr13:92422307..92425060,2	K562	blood:
20	chr13:92007575..92011337-chr13:92428230..92431057,3	K562	blood:
21	chr13:92468912..92469761-chr13:92598813..92599378,2	MCF-7	breast:
22	chr13:92416606..92418610-chr13:92424268..92426806,2	K562	blood:
23	chr13:92425245..92427379-chr13:92459575..92462429,2	K562	blood:
24	chr13:92403864..92405502-chr13:92423546..92426360,2	K562	blood:
25	chr13:91999497..92001290-chr13:92470942..92473538,2	K562	blood:
26	chr13:92008413..92010506-chr13:92466310..92469194,2	K562	blood:
27	chr13:92425988..92428874-chr13:92429270..92431594,2	K562	blood:
28	chr13:92425245..92427379-chr13:92459575..92462429,2	K562	blood:
29	chr13:92013065..92015045-chr13:92455620..92457213,2	K562	blood:
30	chr13:91998591..92000814-chr13:92420191..92422933,2	K562	blood:
31	chr13:92425988..92428874-chr13:92429270..92431594,2	K562	blood:
32	chr13:91998728..92000518-chr13:92437908..92440099,2	K562	blood:
33	chr13:92447696..92448196-chr14:81686779..81687651,2	NB4	blood:
34	chr13:92172090..92174272-chr13:92427047..92429964,2	K562	blood:
35	chr13:92009180..92011434-chr13:92452798..92454691,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-4	chr13:92483240-92483466	l_901_chr13:92483239-92484579_testes
2	lnc-GPC6-4	chr13:92484168-92484579	l_901_chr13:92483239-92484579_testes

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions
ENSG00000165417	chromatin interactions

Extended variants
information (count: 1828 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1828 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs342703	chr13:92421721-92421722	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117015549	chr13:92421732-92421733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529978704	chr13:92421733-92421734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546708364	chr13:92421740-92421741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566846953	chr13:92421778-92421779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184341114	chr13:92421816-92421817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559044490	chr13:92421855-92421856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189630592	chr13:92421868-92421869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143212199	chr13:92421935-92421936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573841960	chr13:92422071-92422072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575061499	chr13:92422117-92422118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562889626	chr13:92422121-92422122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531784671	chr13:92422144-92422145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540906698	chr13:92422145-92422146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552735338	chr13:92422169-92422170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548850427	chr13:92422232-92422233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181233012	chr13:92422278-92422279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185005430	chr13:92422289-92422290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148326853	chr13:92422332-92422333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188772169	chr13:92422354-92422355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367876102	chr13:92422356-92422357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141449292	chr13:92422404-92422405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563423951	chr13:92422414-92422415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561119128	chr13:92422528-92422529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529982878	chr13:92422534-92422535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546868883	chr13:92422562-92422563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541877348	chr13:92422581-92422582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9523408	chr13:92422627-92422628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552721802	chr13:92422723-92422724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs73609150	chr13:92422749-92422750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538324030	chr13:92422750-92422751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555236665	chr13:92422769-92422770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568630883	chr13:92422870-92422871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527856664	chr13:92422884-92422885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181462164	chr13:92422901-92422902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186099750	chr13:92422913-92422914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191013130	chr13:92422914-92422915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs342702	chr13:92422946-92422947	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148233860	chr13:92422958-92422959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558762798	chr13:92422959-92422960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71113759	chr13:92422993-92422994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544575687	chr13:92422998-92422999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558107569	chr13:92423015-92423016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575029777	chr13:92423020-92423021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371898616	chr13:92423071-92423072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543892293	chr13:92423080-92423081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534918602	chr13:92423087-92423088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560968835	chr13:92423114-92423115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574526431	chr13:92423115-92423116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540163787	chr13:92423129-92423130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92417800-92426800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:92420200-92423800	Weak transcription	Hela-S3	cervix
3	chr13:92422200-92423000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:92424800-92425800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:92425200-92427200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:92425200-92427400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:92425400-92425600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:92425400-92427200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:92425400-92427200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:92425600-92426000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:92425600-92427200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:92425800-92427000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:92425800-92427000	Enhancers	Fetal Brain Female	brain
14	chr13:92425800-92427200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:92426000-92426400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:92426000-92427000	Enhancers	Brain Germinal Matrix	brain
17	chr13:92426200-92427000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:92426200-92427200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr13:92426400-92427000	Enhancers	Fetal Brain Male	brain
20	chr13:92426400-92427200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:92426400-92427200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:92426600-92427000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:92426600-92427200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr13:92426600-92427400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr13:92426800-92427000	Enhancers	Brain Anterior Caudate	brain
26	chr13:92426800-92427200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:92427200-92429000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr13:92428800-92429400	Enhancers	Fetal Intestine Large	intestine
29	chr13:92429000-92429200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:92429000-92429200	Weak transcription	Brain Anterior Caudate	brain
31	chr13:92429200-92431200	Enhancers	Brain Anterior Caudate	brain
32	chr13:92429800-92430000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:92430000-92430600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:92430200-92431000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:92430600-92431000	Active TSS	Brain Angular Gyrus	brain
36	chr13:92430600-92431000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr13:92438000-92438200	Enhancers	GM12878-XiMat	blood
38	chr13:92438200-92438600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr13:92442000-92443800	Enhancers	Brain Germinal Matrix	brain
40	chr13:92442600-92443600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr13:92442600-92443600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:92446600-92446800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:92447000-92448200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:92447200-92450000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:92448200-92448600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:92448600-92450000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:92450000-92450200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:92450000-92450200	Enhancers	Fetal Heart	heart
49	chr13:92450200-92454000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:92452000-92452800	Weak transcription	Fetal Heart	heart

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