Variant report

Variant	nsv967083
Chromosome Location	chr3:161146405-161147593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:161147222-161147304	GM10248	blood:	n/a	n/a
2	CTCF	chr3:161147094-161147382	K562	blood:	n/a	n/a
3	CTCF	chr3:161147190-161147295	GM13977	blood:	n/a	n/a
4	CTCF	chr3:161147220-161147292	GM10266	blood:	n/a	n/a
5	CTCF	chr3:161147281-161147298	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr3:161147095-161147392	K562	blood:	n/a	n/a
7	CTCF	chr3:161147052-161147324	K562	blood:	n/a	n/a
8	GATA2	chr3:161146842-161147393	K562	blood:	n/a	n/a
9	HEY1	chr3:161146870-161147346	K562	blood:	n/a	n/a
10	HEY1	chr3:161146791-161147398	K562	blood:	n/a	n/a
11	PAX5	chr3:161146953-161147271	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:161146858-161147422	GM12891	blood:	n/a	n/a
13	POLR2A	chr3:161146886-161147312	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:161147038-161147327	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr3:161147097-161147378	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:161146829-161147455	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:161146836-161147445	GM12892	blood:	n/a	n/a
18	POLR2A	chr3:161146964-161147418	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr3:161146863-161147392	GM12878	blood:	n/a	n/a
20	POLR2A	chr3:161146857-161147398	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr3:161147169-161147278	A549	lung:	n/a	n/a
22	POLR2A	chr3:161146826-161147466	GM12892	blood:	n/a	n/a
23	POLR2A	chr3:161146887-161147584	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr3:161146763-161147440	GM12892	blood:	n/a	n/a
25	POLR2A	chr3:161146882-161147152	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr3:161146894-161147310	HepG2	liver:	n/a	n/a
27	POU2F2	chr3:161147002-161147422	GM12878	blood:	n/a	n/a
28	USF1	chr3:161146930-161147084	HepG2	liver:	n/a	n/a
29	ZBTB33	chr3:161146829-161147414	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151161359..151163451-chr3:161144661..161146525,2	MCF-7	breast:
2	chr3:160940674..160943053-chr3:161145134..161148083,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-5	chr3:161147252-161147401	ENSG00000269888.1
2	lnc-OTOL1-5	chr3:161146900-161146997	ENSG00000269888.1

No data

Variant related genes	Relation type
ENSG00000269888	TF binding region
ENSG00000234851	TF binding region
ENSG00000163159	chromatin interactions
ENSG00000169251	chromatin interactions
ENSG00000271052	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 55 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575264800	chr3:161146434-161146435	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs151211720	chr3:161146455-161146456	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs551084024	chr3:161146487-161146488	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs571258739	chr3:161146640-161146641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373435430	chr3:161146674-161146675	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186026307	chr3:161146699-161146700	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs190879572	chr3:161146703-161146704	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547114674	chr3:161146705-161146706	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567439052	chr3:161146709-161146710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs536464341	chr3:161146746-161146747	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs550253052	chr3:161146761-161146762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs80023589	chr3:161146804-161146805	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs373114962	chr3:161146829-161146830	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs565650360	chr3:161146843-161146844	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs61008936	chr3:161146850-161146851	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs539163917	chr3:161146851-161146852	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs368935922	chr3:161146871-161146872	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs139058677	chr3:161146872-161146873	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs57797316	chr3:161146889-161146890	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs539390464	chr3:161146925-161146926	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs201966936	chr3:161146948-161146949	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs374585463	chr3:161146968-161146969	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs368949779	chr3:161146974-161146975	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs140317057	chr3:161147001-161147002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs572435760	chr3:161147009-161147010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs149923888	chr3:161147036-161147037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182412176	chr3:161147038-161147039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs375315783	chr3:161147054-161147055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs554860637	chr3:161147090-161147091	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574654007	chr3:161147103-161147104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs543610169	chr3:161147117-161147118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185787611	chr3:161147131-161147132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368339166	chr3:161147146-161147147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371943868	chr3:161147164-161147165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545119571	chr3:161147187-161147188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs336552	chr3:161147210-161147211	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370269714	chr3:161147242-161147243	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs367549517	chr3:161147243-161147244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs12575	chr3:161147251-161147252	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200412856	chr3:161147260-161147261	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs1064768	chr3:161147321-161147322	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs1064766	chr3:161147324-161147325	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs537262644	chr3:161147341-161147342	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs561170989	chr3:161147356-161147357	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs530064325	chr3:161147373-161147374	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs191085273	chr3:161147381-161147382	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs375822063	chr3:161147383-161147384	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs538738655	chr3:161147417-161147418	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs552664670	chr3:161147491-161147492	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs555567131	chr3:161147573-161147574	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161134400-161148200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:161145400-161147600	Weak transcription	HepG2	liver
3	chr3:161145800-161148200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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