Variant report

Variant	nsv529091
Chromosome Location	chr13:92065460-92267510
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:295)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr13:91996168..91998142-chr13:92114468..92116785,2	K562	blood:
2	chr13:92243681..92245220-chr13:92248904..92251183,2	K562	blood:
3	chr13:92214626..92216806-chr13:92217477..92220350,2	K562	blood:
4	chr13:92010600..92013246-chr13:92212301..92213807,2	K562	blood:
5	chr13:92135361..92137135-chr13:92138478..92140147,2	K562	blood:
6	chr13:92036940..92038728-chr13:92184434..92186167,2	K562	blood:
7	chr13:92002931..92005760-chr13:92245591..92249078,3	K562	blood:
8	chr13:92049892..92052052-chr13:92186986..92189853,2	K562	blood:
9	chr13:92115826..92117568-chr13:92136688..92139135,2	K562	blood:
10	chr13:92091830..92095908-chr13:92097387..92102509,6	K562	blood:
11	chr13:92196711..92199181-chr13:92203111..92205977,3	K562	blood:
12	chr13:92174310..92175845-chr13:92177039..92178633,2	K562	blood:
13	chr13:92006350..92009024-chr13:92182700..92184354,2	K562	blood:
14	chr13:92149151..92151789-chr13:92253269..92255108,2	K562	blood:
15	chr13:91998600..92001617-chr13:92160458..92163801,3	K562	blood:
16	chr13:92064271..92067451-chr13:92214102..92216956,3	K562	blood:
17	chr13:92245236..92246782-chr13:92265114..92267999,2	K562	blood:
18	chr13:92182876..92184485-chr13:92186803..92188669,2	K562	blood:
19	chr13:92184682..92187279-chr13:92198091..92201088,2	K562	blood:
20	chr13:92208317..92211893-chr13:92214191..92217203,4	K562	blood:
21	chr13:92163408..92165525-chr13:92171224..92173703,2	K562	blood:
22	chr13:92251683..92255707-chr13:92258987..92263495,4	K562	blood:
23	chr13:92102195..92104409-chr13:92117038..92118758,2	K562	blood:
24	chr13:92006350..92012037-chr13:92182700..92187101,6	K562	blood:
25	chr13:92160746..92163640-chr13:92165864..92167595,4	K562	blood:
26	chr13:92106168..92109091-chr13:92193119..92195510,2	K562	blood:
27	chr13:92212560..92214480-chr13:92214711..92216688,2	K562	blood:
28	chr13:92008040..92009933-chr13:92191793..92193745,2	K562	blood:
29	chr13:92003298..92006512-chr13:92172099..92174266,3	K562	blood:
30	chr13:92007639..92009819-chr13:92131676..92134611,2	K562	blood:
31	chr13:91998717..92000233-chr13:92225643..92228118,2	K562	blood:
32	chr13:92262371..92267129-chr13:92268631..92272184,6	K562	blood:
33	chr13:92106168..92109091-chr13:92193119..92195510,2	K562	blood:
34	chr13:92235247..92237716-chr13:92246405..92249429,3	K562	blood:
35	chr13:92011140..92013314-chr13:92167683..92169572,2	K562	blood:
36	chr13:92009651..92011564-chr13:92135642..92137218,2	K562	blood:
37	chr13:92204695..92207651-chr13:92210749..92212543,2	K562	blood:
38	chr13:92030870..92032473-chr13:92100322..92101852,2	K562	blood:
39	chr13:92004480..92006779-chr13:92126847..92129615,2	K562	blood:
40	chr13:92004766..92010130-chr13:92235897..92240121,6	K562	blood:
41	chr13:92206151..92208755-chr13:92211043..92213687,2	K562	blood:
42	chr13:92095018..92096563-chr13:92116969..92119878,2	K562	blood:
43	chr13:92196622..92200535-chr13:92219844..92223399,3	K562	blood:
44	chr13:92217367..92219324-chr13:92267439..92269742,2	K562	blood:
45	chr13:92160746..92163640-chr13:92165864..92167595,4	K562	blood:
46	chr13:92227917..92229950-chr13:92230948..92232962,2	K562	blood:
47	chr13:92193090..92195790-chr13:92201867..92204371,2	K562	blood:
48	chr13:92010104..92012941-chr13:92190804..92193733,4	K562	blood:
49	chr13:92200166..92202892-chr13:92208902..92210980,2	K562	blood:
50	chr13:92195959..92198625-chr13:92200730..92202356,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-6	chr13:92138065-92139124	NONHSAT034696
2	lnc-GPC6-6	chr13:92139141-92139148	NONHSAT034696

No data

Variant related genes	Relation type
ENSG00000179399	chromatin interactions
ENSG00000215417	chromatin interactions

Extended variants
information (count: 5483 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:5483 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80321096	chr13:92065535-92065536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557480334	chr13:92065543-92065544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571275068	chr13:92065578-92065579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3848048	chr13:92065583-92065584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556778753	chr13:92065608-92065609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35283458	chr13:92065609-92065610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73612186	chr13:92065633-92065634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528396321	chr13:92065654-92065655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180971916	chr13:92065709-92065710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542865696	chr13:92065710-92065711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553198139	chr13:92065720-92065721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573063291	chr13:92065770-92065771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79854989	chr13:92065772-92065773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs118085975	chr13:92065797-92065798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150080361	chr13:92065919-92065920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544331817	chr13:92065951-92065952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571414789	chr13:92065978-92065979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185453257	chr13:92065987-92065988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12874978	chr13:92066044-92066045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546808618	chr13:92066045-92066046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560799386	chr13:92066058-92066059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34586017	chr13:92066121-92066122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532699494	chr13:92066209-92066210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138477067	chr13:92066215-92066216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188555350	chr13:92066263-92066264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149266507	chr13:92066289-92066290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550667065	chr13:92066306-92066307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181500099	chr13:92066323-92066324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536410449	chr13:92066369-92066370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376085669	chr13:92066391-92066392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376843306	chr13:92066397-92066398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201503855	chr13:92066424-92066425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8000363	chr13:92066437-92066438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573087487	chr13:92066470-92066471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572719563	chr13:92066483-92066484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138110436	chr13:92066484-92066485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538508014	chr13:92066498-92066499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187029580	chr13:92066537-92066538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562227470	chr13:92066539-92066540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561015507	chr13:92066554-92066555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574604923	chr13:92066580-92066581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540776035	chr13:92066597-92066598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143770833	chr13:92066598-92066599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117973830	chr13:92066600-92066601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552629256	chr13:92066604-92066605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147221948	chr13:92066642-92066643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530483380	chr13:92066690-92066691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550604762	chr13:92066719-92066720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116849236	chr13:92066733-92066734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577969150	chr13:92066820-92066821	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	18496225	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92063800-92069600	Weak transcription	Stomach Mucosa	stomach
2	chr13:92067600-92067800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:92069600-92069800	Enhancers	GM12878-XiMat	blood
4	chr13:92069600-92070400	Enhancers	Fetal Lung	lung
5	chr13:92069600-92071000	Enhancers	Stomach Mucosa	stomach
6	chr13:92069800-92070000	Flanking Active TSS	GM12878-XiMat	blood
7	chr13:92070000-92070400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:92070000-92070400	Enhancers	GM12878-XiMat	blood
9	chr13:92072000-92072400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:92073400-92074400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:92078800-92079200	Weak transcription	Hela-S3	cervix
12	chr13:92084000-92084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:92119600-92120800	Enhancers	Hela-S3	cervix
14	chr13:92120200-92121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:92120200-92121000	Enhancers	HMEC	breast
16	chr13:92120200-92121000	Enhancers	NHEK	skin
17	chr13:92120200-92121400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:92121000-92122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:92122400-92122600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:92133800-92134600	ZNF genes & repeats	Aorta	Aorta
21	chr13:92133800-92157000	Weak transcription	Hela-S3	cervix
22	chr13:92134800-92135000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:92135000-92135600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:92135000-92138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:92135600-92136000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:92138000-92139200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:92138000-92139400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:92138000-92139600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr13:92138400-92139200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:92143800-92144000	Enhancers	Aorta	Aorta
31	chr13:92144600-92144800	Enhancers	Aorta	Aorta
32	chr13:92172800-92173800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr13:92173200-92173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr13:92173400-92174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr13:92173400-92174000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr13:92173600-92174000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr13:92173600-92174200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:92174000-92174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr13:92183400-92184400	Active TSS	Right Atrium	heart
40	chr13:92185800-92186400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr13:92191000-92195000	Enhancers	Fetal Intestine Large	intestine
42	chr13:92191200-92191400	Enhancers	K562	blood
43	chr13:92191400-92192000	Flanking Active TSS	K562	blood
44	chr13:92191400-92193000	Enhancers	HepG2	liver
45	chr13:92191400-92194800	Enhancers	Fetal Intestine Small	intestine
46	chr13:92191600-92192000	Enhancers	Primary hematopoietic stem cells	blood
47	chr13:92191600-92192800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:92191600-92193800	Enhancers	Fetal Lung	lung
49	chr13:92191800-92192800	Enhancers	Fetal Stomach	stomach
50	chr13:92191800-92193200	Enhancers	Rectal Mucosa Donor 29	rectum

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