Variant report

Variant	nsv963344
Chromosome Location	chr3:97982307-97983254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:97982397-97982447	HAEpiC	amniotic membrane:	n/a
2	chr3:97982830-97982880	ovcar-3	ovarian:	n/a
3	chr3:97983253-97983303	SK-N-SH_RA	brain:	n/a
4	chr3:97982830-97982880	NT2-D1	testis:	n/a
5	chr3:97982397-97982447	GM06990	blood:	n/a
6	chr3:97983253-97983303	HCM	heart:	n/a
7	chr3:97982397-97982447	PrEC	prostate:	n/a
8	chr3:97982830-97982880	HRCEpiC	kidney:	n/a
9	chr3:97983253-97983303	HRE	kidney:	n/a
10	chr3:97983253-97983303	IMR90	lung:	fetal
11	chr3:97983253-97983303	GM19239	blood:	n/a
12	chr3:97982830-97982880	NHDF-neo	bronchial:	n/a
13	chr3:97982397-97982447	AG09319	gingival:	n/a
14	chr3:97983253-97983303	GM12878	blood:	n/a
15	chr3:97983253-97983303	Hela-S3	cervix:	n/a
16	chr3:97982397-97982447	ECC-1	luminal epithelium:	n/a
17	chr3:97982830-97982880	PrEC	prostate:	n/a
18	chr3:97983253-97983303	AG04449	skin:	fetal
19	chr3:97982830-97982880	AG10803	skin:	n/a
20	chr3:97982397-97982447	RPTEC	kidney:	n/a
21	chr3:97982397-97982447	HL-60	blood:	n/a
22	chr3:97982397-97982447	HRCEpiC	kidney:	n/a
23	chr3:97982397-97982447	HNPCEpiC	eye:	n/a
24	chr3:97982830-97982880	HepG2	liver:	n/a
25	chr3:97982830-97982880	Hela-S3	cervix:	n/a
26	chr3:97983253-97983303	CMK	blood:	n/a
27	chr3:97982397-97982447	HMEC	breast:	n/a
28	chr3:97983253-97983303	PrEC	prostate:	n/a
29	chr3:97982397-97982447	AG04450	lung:	fetal
30	chr3:97982830-97982880	LNCaP	prostate:	n/a
31	chr3:97983253-97983303	SAEC	small airway:	n/a
32	chr3:97982397-97982447	MCF-7	breast:	n/a
33	chr3:97982830-97982880	HMEC	breast:	n/a
34	chr3:97982397-97982447	SK-N-MC	brain:	n/a
35	chr3:97982830-97982880	GM12891	blood:	n/a
36	chr3:97982830-97982880	AG09309	skin:	n/a
37	chr3:97982830-97982880	HEEpiC	esophagus:	n/a
38	chr3:97982397-97982447	GM12878	blood:	n/a
39	chr3:97983253-97983303	GM12892	blood:	n/a
40	chr3:97982397-97982447	PFSK-1	brain:	n/a
41	chr3:97982397-97982447	Jurkat	blood:	n/a
42	chr3:97982830-97982880	IMR90	lung:	fetal
43	chr3:97982830-97982880	HL-60	blood:	n/a
44	chr3:97982830-97982880	PANC-1	pancreas:	n/a
45	chr3:97982830-97982880	PFSK-1	brain:	n/a
46	chr3:97983253-97983303	NHDF-neo	bronchial:	n/a
47	chr3:97983253-97983303	HEEpiC	esophagus:	n/a
48	chr3:97983253-97983303	U87	brain:	n/a
49	chr3:97982830-97982880	H1-hESC	embryonic stem cell:	embryo
50	chr3:97982830-97982880	A549	lung:	n/a

No data

Variant related genes	Relation type
OR5H6	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76184766	chr3:97982398-97982399	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs570613633	chr3:97982424-97982425	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs539651647	chr3:97982431-97982432	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs539507485	chr3:97982831-97982832	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs112234164	chr3:97982857-97982858	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs561853377	chr3:97982867-97982868	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs16839491	chr3:97982875-97982876	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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