Variant report

Variant	nsv984341
Chromosome Location	chr16:64770082-64771386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:64770340-64770490	GM12866	blood:	n/a	n/a
2	MAFF	chr16:64770458-64770647	HepG2	liver:	n/a	chr16:64770527-64770545
3	MAFK	chr16:64770466-64770615	HepG2	liver:	n/a	chr16:64770533-64770544 chr16:64770532-64770543 chr16:64770528-64770544 chr16:64770528-64770543 chr16:64770531-64770545 chr16:64770533-64770544
4	MAFK	chr16:64770421-64770645	HepG2	liver:	n/a	chr16:64770533-64770544 chr16:64770532-64770543 chr16:64770528-64770544 chr16:64770528-64770543 chr16:64770531-64770545 chr16:64770533-64770544

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH5-5	chr16:64770321-64770707	ENSG00000259859.1
2	lnc-CDH5-5	chr16:64770691-64771183	NONHSAT142958

Variant related genes	Relation type
ENSG00000260187	TF binding region
ENSG00000260068	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182984534	chr16:64770108-64770109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543368152	chr16:64770109-64770110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77831733	chr16:64770124-64770125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372038071	chr16:64770200-64770201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532184794	chr16:64770253-64770254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138323301	chr16:64770263-64770264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535687665	chr16:64770267-64770268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551992539	chr16:64770304-64770305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545962804	chr16:64770328-64770329	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs200105155	chr16:64770398-64770399	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs565034508	chr16:64770423-64770424	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs142723626	chr16:64770427-64770428	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs144977527	chr16:64770468-64770469	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs138838468	chr16:64770493-64770494	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs12919603	chr16:64770560-64770561	Weak transcription	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7499030	chr16:64770583-64770584	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs116127267	chr16:64770631-64770632	Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs150807956	chr16:64770678-64770679	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs149655155	chr16:64770692-64770693	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs369354418	chr16:64770694-64770695	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs372930769	chr16:64770700-64770701	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs202038244	chr16:64770703-64770704	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs377231404	chr16:64770704-64770705	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs145408521	chr16:64770705-64770706	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs71143515	chr16:64770707-64770708	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs374680193	chr16:64770709-64770710	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs368943768	chr16:64770713-64770714	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs553861275	chr16:64770733-64770734	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs565760570	chr16:64770762-64770763	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs231074	chr16:64770787-64770788	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186045640	chr16:64770816-64770817	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536544231	chr16:64770833-64770834	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs556858575	chr16:64770842-64770843	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs190064606	chr16:64770854-64770855	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs556827378	chr16:64770864-64770865	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs75765062	chr16:64770867-64770868	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs545570076	chr16:64770882-64770883	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs559154531	chr16:64771019-64771020	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs113593283	chr16:64771116-64771117	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs541185257	chr16:64771117-64771118	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs561292426	chr16:64771118-64771119	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs530053377	chr16:64771124-64771125	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs5817487	chr16:64771130-64771131	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs576672209	chr16:64771136-64771137	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs147153513	chr16:64771158-64771159	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs112224389	chr16:64771159-64771160	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs531723133	chr16:64771211-64771212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7192050	chr16:64771286-64771287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566293167	chr16:64771334-64771335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112689629	chr16:64771341-64771342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64767600-64772200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:64770800-64771200	Enhancers	Osteobl	bone
3	chr16:64771200-64772400	Weak transcription	Osteobl	bone

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