Variant report

Variant	nsv877080
Chromosome Location	chr3:84056075-84106241
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:1)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:84105503..84107630-chr3:84297263..84298774,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
2	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
3	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
4	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
5	lnc-CADM2-3	chr3:84058064-84058664	XLOC_002722
6	lnc-CADM2-3	chr3:84057302-84057334	XLOC_002722
7	lnc-CADM2-3	chr3:84058064-84058664	XLOC_002722
8	lnc-CADM2-3	chr3:84102327-84102414	l_2403_chr3:84085490-84141354_heart
9	lnc-CADM2-3	chr3:84057302-84057334	XLOC_002722
10	lnc-CADM2-3	chr3:84058064-84058664	XLOC_002722
11	lnc-CADM2-3	chr3:84057302-84057334	XLOC_002722
12	lnc-CADM2-3	chr3:84085491-84085540	l_2403_chr3:84085490-84141354_heart
13	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
14	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
15	lnc-CADM2-3	chr3:84100679-84100795	l_2403_chr3:84085490-84141354_heart
16	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
17	lnc-CADM2-3	chr3:84086102-84086262	l_2403_chr3:84085490-84141354_heart
18	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722

No data

Variant related genes	Relation type
ERMP1	miRNA target sites
DIP2A	miRNA target sites

Extended variants
information (count: 1260 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1260 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7634832	chr3:84056075-84056076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556189428	chr3:84056089-84056090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552745680	chr3:84056106-84056107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577714455	chr3:84056150-84056151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370311140	chr3:84056250-84056251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538443988	chr3:84056272-84056273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557224578	chr3:84056280-84056281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575585787	chr3:84056292-84056293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542913060	chr3:84056299-84056300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188572137	chr3:84056301-84056302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576165467	chr3:84056343-84056344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560636337	chr3:84056344-84056345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571471469	chr3:84056361-84056362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375107565	chr3:84056392-84056393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540627713	chr3:84056417-84056418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144635341	chr3:84056430-84056431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532680193	chr3:84056471-84056472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544385584	chr3:84056479-84056480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192264238	chr3:84056490-84056491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530253099	chr3:84056493-84056494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377526907	chr3:84056508-84056509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548431859	chr3:84056536-84056537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34740002	chr3:84056544-84056545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73119892	chr3:84056558-84056559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567155863	chr3:84056570-84056571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542047637	chr3:84056589-84056590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555268558	chr3:84056601-84056602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183691115	chr3:84056605-84056606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73119895	chr3:84056631-84056632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187908813	chr3:84056665-84056666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191319109	chr3:84056689-84056690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183856957	chr3:84056719-84056720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572332730	chr3:84056745-84056746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371044225	chr3:84056754-84056755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557112235	chr3:84056764-84056765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569036924	chr3:84056858-84056859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536462045	chr3:84056860-84056861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554522938	chr3:84056872-84056873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529123907	chr3:84056894-84056895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573141944	chr3:84056925-84056926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544397467	chr3:84056932-84056933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540259934	chr3:84056939-84056940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558947488	chr3:84056979-84056980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577247450	chr3:84056998-84056999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375640816	chr3:84057024-84057025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544272951	chr3:84057031-84057032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562649891	chr3:84057038-84057039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187110208	chr3:84057088-84057089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191934233	chr3:84057131-84057132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541299557	chr3:84057167-84057168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84048000-84061200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:84057800-84058400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:84057800-84058400	Enhancers	NHEK	skin
4	chr3:84058000-84058400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:84061200-84061400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:84062400-84065400	Weak transcription	NHDF-Ad	bronchial
7	chr3:84078000-84078400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:84079400-84079800	Enhancers	Hela-S3	cervix
9	chr3:84080600-84081000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:84080800-84082600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:84081200-84081600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr3:84082600-84083000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:84083000-84089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:84088600-84088800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:84088800-84094800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:84094800-84095000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr3:84095000-84101800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:84102800-84103000	Flanking Bivalent TSS/Enh	Left Ventricle	heart

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