Variant report

Variant	nsv948820
Chromosome Location	chr13:92408505-92519053
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:48)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92172090..92174272-chr13:92427047..92429964,2	K562	blood:
2	chr13:92058845..92059502-chr13:92434132..92434731,2	MCF-7	breast:
3	chr13:91998535..92001268-chr13:92468179..92469811,2	K562	blood:
4	chr13:92349578..92351977-chr13:92437335..92438959,2	K562	blood:
5	chr13:92007575..92011337-chr13:92428230..92431057,3	K562	blood:
6	chr13:92296687..92299526-chr13:92415724..92417645,2	K562	blood:
7	chr13:91998591..92000814-chr13:92420191..92422933,2	K562	blood:
8	chr13:92425245..92427379-chr13:92459575..92462429,2	K562	blood:
9	chr13:91999865..92002024-chr13:92412543..92415507,2	K562	blood:
10	chr13:91996442..92000452-chr13:92423521..92427515,3	K562	blood:
11	chr13:92013065..92015045-chr13:92455620..92457213,2	K562	blood:
12	chr13:92001069..92003885-chr13:92432371..92435271,2	K562	blood:
13	chr13:92425988..92428874-chr13:92429270..92431594,2	K562	blood:
14	chr13:92425245..92427379-chr13:92459575..92462429,2	K562	blood:
15	chr13:92416606..92418610-chr13:92424268..92426806,2	K562	blood:
16	chr13:92338961..92341299-chr13:92468919..92471382,2	K562	blood:
17	chr13:92291902..92294855-chr13:92469701..92472559,2	K562	blood:
18	chr13:92409879..92412043-chr13:92422307..92425060,2	K562	blood:
19	chr13:92028892..92031114-chr13:92432989..92434969,2	K562	blood:
20	chr13:92409879..92412043-chr13:92422307..92425060,2	K562	blood:
21	chr13:92411924..92414479-chr13:92417202..92420312,3	K562	blood:
22	chr13:92008413..92010506-chr13:92466310..92469194,2	K562	blood:
23	chr13:92414642..92418617-chr13:92420339..92423769,4	K562	blood:
24	chr13:92408850..92411747-chr13:92422307..92426184,4	K562	blood:
25	chr13:92468912..92469761-chr13:92598813..92599378,2	MCF-7	breast:
26	chr13:91999549..92001296-chr13:92427143..92429211,2	K562	blood:
27	chr13:92008654..92011622-chr13:92423601..92425301,2	K562	blood:
28	chr13:92414642..92418617-chr13:92420339..92423769,4	K562	blood:
29	chr13:92425988..92428874-chr13:92429270..92431594,2	K562	blood:
30	chr13:91998728..92000518-chr13:92437908..92440099,2	K562	blood:
31	chr13:92464505..92466650-chr13:92470454..92472788,2	K562	blood:
32	chr13:91998400..92000626-chr13:92417497..92419745,2	K562	blood:
33	chr13:92401398..92403609-chr13:92406672..92409207,2	K562	blood:
34	chr13:92430631..92432524-chr13:92439233..92440764,2	K562	blood:
35	chr13:92329658..92332164-chr13:92415917..92418730,3	K562	blood:
36	chr13:92447696..92448196-chr14:81686779..81687651,2	NB4	blood:
37	chr13:91999497..92001290-chr13:92470942..92473538,2	K562	blood:
38	chr13:92464505..92466650-chr13:92470454..92472788,2	K562	blood:
39	chr13:92009180..92011434-chr13:92452798..92454691,2	K562	blood:
40	chr13:92448522..92450690-chr15:34895323..34897374,2	K562	blood:
41	chr13:92416606..92418610-chr13:92424268..92426806,2	K562	blood:
42	chr13:92411924..92414479-chr13:92417202..92420312,3	K562	blood:
43	chr13:92408850..92411747-chr13:92422307..92426184,4	K562	blood:
44	chr13:92414833..92415387-chr21:46409975..46410728,2	Hela-S3	cervix:
45	chr13:92022295..92024727-chr13:92447599..92449200,2	K562	blood:
46	chr13:92430631..92432524-chr13:92439233..92440764,2	K562	blood:
47	chr13:92143103..92145187-chr13:92412548..92414765,2	K562	blood:
48	chr13:92403864..92405502-chr13:92423546..92426360,2	K562	blood:

(count:4 , 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-GPC6-3	chr13:92506911-92506952	NONHSAT034698
3	lnc-GPC6-3	chr13:92508013-92508180	NONHSAT034698
4	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: 2329 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2329 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3783054	chr13:92408505-92408506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368582580	chr13:92408517-92408518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373241995	chr13:92408527-92408528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375902771	chr13:92408545-92408546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529941640	chr13:92408587-92408588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144633839	chr13:92408596-92408597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575206298	chr13:92408602-92408603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201682963	chr13:92408626-92408627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138163539	chr13:92408635-92408636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368890147	chr13:92408663-92408664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186870552	chr13:92408741-92408742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200452896	chr13:92408750-92408751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529769660	chr13:92408754-92408755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546271536	chr13:92408907-92408908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570670386	chr13:92408948-92408949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569935838	chr13:92408966-92408967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145989821	chr13:92408972-92408973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71667012	chr13:92408973-92408974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559953735	chr13:92408990-92408991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549614260	chr13:92408991-92408992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552446753	chr13:92409000-92409001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146576104	chr13:92409001-92409002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202054201	chr13:92409006-92409007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569015712	chr13:92409034-92409035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538253919	chr13:92409045-92409046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548260574	chr13:92409078-92409079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549332142	chr13:92409114-92409115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565879183	chr13:92409168-92409169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534814839	chr13:92409182-92409183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577327471	chr13:92409192-92409193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376446876	chr13:92409204-92409205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139581229	chr13:92409205-92409206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571666599	chr13:92409218-92409219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534331105	chr13:92409246-92409247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554305539	chr13:92409276-92409277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112590789	chr13:92409341-92409342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539607568	chr13:92409344-92409345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537425927	chr13:92409347-92409348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556834014	chr13:92409378-92409379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576635488	chr13:92409413-92409414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542490280	chr13:92409419-92409420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560587372	chr13:92409451-92409452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533485862	chr13:92409491-92409492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574082066	chr13:92409514-92409515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144403354	chr13:92409515-92409516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151079012	chr13:92409526-92409527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78505774	chr13:92409543-92409544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552050650	chr13:92409631-92409632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573734818	chr13:92409697-92409698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187529070	chr13:92409753-92409754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92383000-92419400	Weak transcription	Hela-S3	cervix
2	chr13:92413200-92413600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr13:92413200-92413600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:92413200-92414000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:92413200-92414400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:92413400-92413800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:92413400-92414000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr13:92413600-92413800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:92413600-92414000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:92413600-92414000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:92413600-92414200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:92414000-92414200	Enhancers	Fetal Intestine Large	intestine
13	chr13:92414000-92414400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:92414000-92417000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:92414200-92415000	Weak transcription	Fetal Intestine Large	intestine
16	chr13:92414400-92414800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:92414800-92415600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:92415000-92416000	Enhancers	Fetal Intestine Large	intestine
19	chr13:92416000-92419200	Weak transcription	Fetal Intestine Large	intestine
20	chr13:92417000-92417800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:92417200-92418600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr13:92417800-92426800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:92418200-92418600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:92419200-92419800	Enhancers	Fetal Intestine Large	intestine
25	chr13:92419400-92420200	Enhancers	Hela-S3	cervix
26	chr13:92419600-92420000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr13:92419600-92420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr13:92420200-92421200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr13:92420200-92423800	Weak transcription	Hela-S3	cervix
30	chr13:92422200-92423000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:92424800-92425800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr13:92425200-92427200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr13:92425200-92427400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr13:92425400-92425600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:92425400-92427200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:92425400-92427200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr13:92425600-92426000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr13:92425600-92427200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr13:92425800-92427000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr13:92425800-92427000	Enhancers	Fetal Brain Female	brain
41	chr13:92425800-92427200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr13:92426000-92426400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:92426000-92427000	Enhancers	Brain Germinal Matrix	brain
44	chr13:92426200-92427000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:92426200-92427200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr13:92426400-92427000	Enhancers	Fetal Brain Male	brain
47	chr13:92426400-92427200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr13:92426400-92427200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:92426600-92427000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr13:92426600-92427200	Enhancers	H1 Cell Line	embryonic stem cell

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