Variant report

Variant	nsv514714
Chromosome Location	chr13:92138511-92142319
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92115826..92117568-chr13:92136688..92139135,2	K562	blood:
2	chr13:92135361..92137135-chr13:92138478..92140147,2	K562	blood:
3	chr13:92122838..92124577-chr13:92141726..92143965,2	K562	blood:
4	chr13:92135261..92136861-chr13:92137594..92139978,2	K562	blood:

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

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

No data

Extended variants
information (count: 175 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150966054	chr13:92138530-92138531	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs4771835	chr13:92138595-92138596	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs76688311	chr13:92138626-92138627	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs568914304	chr13:92138656-92138657	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs531433510	chr13:92138738-92138739	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548336231	chr13:92138755-92138756	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs116867018	chr13:92138776-92138777	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs533718800	chr13:92138780-92138781	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs140764283	chr13:92138791-92138792	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs570612795	chr13:92138814-92138815	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs539387227	chr13:92138837-92138838	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs556135838	chr13:92138861-92138862	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs576056727	chr13:92138903-92138904	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535539210	chr13:92138909-92138910	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs7996681	chr13:92138962-92138963	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs555545747	chr13:92138985-92138986	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs146047561	chr13:92139008-92139009	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs541220187	chr13:92139036-92139037	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs183250232	chr13:92139037-92139038	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs578181962	chr13:92139073-92139074	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs79380936	chr13:92139166-92139167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539810951	chr13:92139198-92139199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562449449	chr13:92139199-92139200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531295753	chr13:92139231-92139232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548227812	chr13:92139260-92139261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535573289	chr13:92139277-92139278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187344958	chr13:92139291-92139292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561580148	chr13:92139327-92139328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527387897	chr13:92139339-92139340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78029253	chr13:92139373-92139374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570671605	chr13:92139443-92139444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539346038	chr13:92139444-92139445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs648167	chr13:92139448-92139449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569623452	chr13:92139468-92139469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530520668	chr13:92139480-92139481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs647716	chr13:92139544-92139545	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572413475	chr13:92139556-92139557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147821155	chr13:92139628-92139629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558044721	chr13:92139631-92139632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9560815	chr13:92139644-92139645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544042395	chr13:92139648-92139649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563927394	chr13:92139658-92139659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535067754	chr13:92139772-92139773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531853610	chr13:92139773-92139774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574409969	chr13:92139783-92139784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535849269	chr13:92139784-92139785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191979778	chr13:92139790-92139791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561759167	chr13:92139828-92139829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527376288	chr13:92139846-92139847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184583083	chr13:92139927-92139928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92133800-92157000	Weak transcription	Hela-S3	cervix
2	chr13:92138000-92139200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:92138000-92139400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:92138000-92139600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:92138400-92139200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links