Variant report

Variant	nsv979853
Chromosome Location	chr3:86061497-86065003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:86063811-86063870	GM20000	blood:	n/a	n/a
2	POLR2A	chr3:86061731-86061741	MCF-7	breast:	n/a	n/a
3	STAT3	chr3:86064205-86064214	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:86061698-86061748	A549	lung:	n/a
2	chr3:86061715-86061765	HRE	kidney:	n/a
3	chr3:86061698-86061748	AG09309	skin:	n/a
4	chr3:86061715-86061765	ProgFib	skin:	n/a
5	chr3:86061698-86061748	Jurkat	blood:	n/a
6	chr3:86061698-86061748	U87	brain:	n/a
7	chr3:86061715-86061765	NT2-D1	testis:	n/a
8	chr3:86061715-86061765	GM06990	blood:	n/a
9	chr3:86061698-86061748	AoSMC	blood vessel:	n/a
10	chr3:86061715-86061765	GM12891	blood:	n/a
11	chr3:86061698-86061748	HRPEpiC	eye:	n/a
12	chr3:86061698-86061748	HNPCEpiC	eye:	n/a
13	chr3:86061698-86061748	Caco-2	colon:	n/a
14	chr3:86061698-86061748	HEK293	kidney:	embryo
15	chr3:86061715-86061765	HUVEC	blood vessel:	n/a
16	chr3:86061698-86061748	HMEC	breast:	n/a
17	chr3:86061715-86061765	AG09309	skin:	n/a
18	chr3:86061715-86061765	HAEpiC	amniotic membrane:	n/a
19	chr3:86061715-86061765	HRPEpiC	eye:	n/a
20	chr3:86061715-86061765	LNCaP	prostate:	n/a
21	chr3:86061715-86061765	H1-hESC	embryonic stem cell:	embryo
22	chr3:86061698-86061748	LNCaP	prostate:	n/a
23	chr3:86061715-86061765	AoSMC	blood vessel:	n/a
24	chr3:86061715-86061765	SKMC	muscle:	n/a
25	chr3:86061698-86061748	GM12891	blood:	n/a
26	chr3:86061698-86061748	HRCEpiC	kidney:	n/a
27	chr3:86061698-86061748	PFSK-1	brain:	n/a
28	chr3:86061698-86061748	HCPEpiC	choroid plexus:	n/a
29	chr3:86061715-86061765	HL-60	blood:	n/a
30	chr3:86061715-86061765	MCF-7	breast:	n/a
31	chr3:86061698-86061748	IMR90	lung:	fetal
32	chr3:86061698-86061748	PANC-1	pancreas:	n/a
33	chr3:86061698-86061748	ovcar-3	ovarian:	n/a
34	chr3:86061715-86061765	AG04450	lung:	fetal
35	chr3:86061715-86061765	Hela-S3	cervix:	n/a
36	chr3:86061698-86061748	HCM	heart:	n/a
37	chr3:86061698-86061748	NT2-D1	testis:	n/a
38	chr3:86061698-86061748	GM06990	blood:	n/a
39	chr3:86061715-86061765	HCF	heart:	n/a
40	chr3:86061698-86061748	NH-A	brain:	n/a
41	chr3:86061715-86061765	NHBE	bronchial:	n/a
42	chr3:86061715-86061765	HCM	heart:	n/a
43	chr3:86061715-86061765	IMR90	lung:	fetal
44	chr3:86061715-86061765	BJ	skin:	n/a
45	chr3:86061715-86061765	AG04449	skin:	fetal
46	chr3:86061715-86061765	HCPEpiC	choroid plexus:	n/a
47	chr3:86061698-86061748	GM19239	blood:	n/a
48	chr3:86061715-86061765	MCF10A-Er-Src	breast:	n/a
49	chr3:86061698-86061748	H1-hESC	embryonic stem cell:	embryo
50	chr3:86061698-86061748	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
PRKRIRP2	TF binding region
PRKRIRP2	CpG island

Extended variants
information (count: 122 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557816973	chr3:86061504-86061505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570582935	chr3:86061527-86061528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538067077	chr3:86061529-86061530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576831780	chr3:86061591-86061592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574686560	chr3:86061599-86061600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148882049	chr3:86061601-86061602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553850157	chr3:86061615-86061616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535874815	chr3:86061616-86061617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572061333	chr3:86061618-86061619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545946193	chr3:86061634-86061635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370379610	chr3:86061654-86061655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576026510	chr3:86061671-86061672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544009331	chr3:86061680-86061681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562096025	chr3:86061725-86061726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9874892	chr3:86061732-86061733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547677086	chr3:86061735-86061736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183808284	chr3:86061742-86061743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188975044	chr3:86061749-86061750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536679484	chr3:86061777-86061778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551459692	chr3:86061820-86061821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572450127	chr3:86061858-86061859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570150401	chr3:86061900-86061901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142590374	chr3:86061936-86061937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181513507	chr3:86061972-86061973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34864330	chr3:86061975-86061976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568158341	chr3:86062005-86062006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535788123	chr3:86062018-86062019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151276116	chr3:86062063-86062064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377470019	chr3:86062066-86062067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572096592	chr3:86062078-86062079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539459120	chr3:86062080-86062081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557431697	chr3:86062082-86062083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184801637	chr3:86062127-86062128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559072271	chr3:86062133-86062134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117563012	chr3:86062181-86062182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7629531	chr3:86062188-86062189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573883499	chr3:86062191-86062192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541357222	chr3:86062194-86062195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559642502	chr3:86062281-86062282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371300668	chr3:86062282-86062283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533413010	chr3:86062284-86062285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551762455	chr3:86062308-86062309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563489491	chr3:86062322-86062323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111766601	chr3:86062343-86062344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557936023	chr3:86062393-86062394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531080468	chr3:86062395-86062396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190324857	chr3:86062437-86062438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547559272	chr3:86062443-86062444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73134197	chr3:86062444-86062445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535621219	chr3:86062450-86062451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86040400-86064000	Weak transcription	Brain Hippocampus Middle	brain
2	chr3:86063600-86064000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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