Variant report

Variant	nsv877043
Chromosome Location	chr3:82198467-82311711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
2	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
3	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440
4	lnc-CADM2-6	chr3:82234526-82234604	NONHSAT090628
5	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440
6	lnc-CADM2-6	chr3:82251480-82251605	NONHSAT090628

Variant related genes	Relation type
YWHAH	miRNA target sites
TNFAIP3	miRNA target sites
ERO1LB	miRNA target sites
ZFP91	miRNA target sites

Extended variants
information (count: 1843 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1843 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140248694	chr3:82200601-82200602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575701238	chr3:82200618-82200619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12486412	chr3:82200654-82200655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544755202	chr3:82200721-82200722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142501149	chr3:82200730-82200731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73135717	chr3:82200804-82200805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540521361	chr3:82200824-82200825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560414170	chr3:82200866-82200867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527616754	chr3:82200888-82200889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528857735	chr3:82200899-82200900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565497912	chr3:82200903-82200904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542613254	chr3:82200924-82200925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369899257	chr3:82200984-82200985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562404750	chr3:82201022-82201023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531296461	chr3:82201083-82201084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551108809	chr3:82201150-82201151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183314003	chr3:82201215-82201216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555930027	chr3:82201238-82201239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142716269	chr3:82201251-82201252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533363506	chr3:82201301-82201302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546859971	chr3:82201302-82201303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567155799	chr3:82201329-82201330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535439137	chr3:82201335-82201336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150921694	chr3:82201337-82201338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569199352	chr3:82201447-82201448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543568310	chr3:82201547-82201548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201731772	chr3:82201548-82201549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113128517	chr3:82201565-82201566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538318000	chr3:82201610-82201611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377195190	chr3:82201650-82201651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558319826	chr3:82201666-82201667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375051385	chr3:82201677-82201678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73135720	chr3:82201691-82201692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112069766	chr3:82201840-82201841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537383987	chr3:82201869-82201870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140788598	chr3:82201925-82201926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188004529	chr3:82201926-82201927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201917036	chr3:82201949-82201950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573889307	chr3:82201963-82201964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542597692	chr3:82201981-82201982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538260908	chr3:82203464-82203465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558256404	chr3:82203494-82203495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571773872	chr3:82203500-82203501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541636390	chr3:82203507-82203508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376432232	chr3:82203549-82203550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189679801	chr3:82203567-82203568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553924886	chr3:82203618-82203619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573801199	chr3:82203694-82203695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536526371	chr3:82203709-82203710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556199069	chr3:82203712-82203713	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Splenic marginal zone lymphoma	21957467	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82200600-82202000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:82203400-82204200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:82203400-82204800	Enhancers	HepG2	liver
4	chr3:82204200-82205000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:82205000-82209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:82205800-82206200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:82205800-82207800	Enhancers	HUVEC	blood vessel
8	chr3:82206000-82207600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:82206000-82207800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:82206600-82207800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:82206800-82207000	Enhancers	A549	lung
12	chr3:82206800-82207600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:82206800-82207600	Enhancers	NH-A	brain
14	chr3:82206800-82207600	Enhancers	Osteobl	bone
15	chr3:82206800-82207800	Enhancers	HMEC	breast
16	chr3:82207000-82207600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:82207000-82207600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:82207000-82207600	Enhancers	NHDF-Ad	bronchial
19	chr3:82207000-82207600	Enhancers	NHLF	lung
20	chr3:82207200-82207600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:82207600-82209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:82213800-82214800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:82226400-82228000	Enhancers	Ovary	ovary
24	chr3:82227800-82228000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:82228600-82228800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:82230800-82232000	Enhancers	Dnd41	blood
27	chr3:82232800-82233400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:82233200-82233400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:82233600-82238200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:82235000-82235600	Enhancers	Ovary	ovary
31	chr3:82235200-82235400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:82238200-82239000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:82243800-82244600	Enhancers	HUVEC	blood vessel
34	chr3:82249800-82252400	Enhancers	Fetal Heart	heart
35	chr3:82252400-82257400	Weak transcription	Fetal Heart	heart
36	chr3:82254200-82254800	Enhancers	Primary B cells from peripheral blood	blood
37	chr3:82254200-82258000	Enhancers	Primary B cells from cord blood	blood
38	chr3:82254800-82255800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr3:82255800-82257400	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:82257400-82258000	Enhancers	Fetal Heart	heart
41	chr3:82258000-82262800	Weak transcription	Fetal Heart	heart
42	chr3:82258800-82259000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:82259000-82260600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:82262800-82263800	Enhancers	Fetal Heart	heart
45	chr3:82270600-82271800	Active TSS	Fetal Heart	heart
46	chr3:82271600-82272600	Enhancers	Liver	Liver
47	chr3:82271800-82272000	Flanking Active TSS	Fetal Heart	heart
48	chr3:82272000-82272400	Enhancers	Fetal Heart	heart
49	chr3:82272400-82272800	Active TSS	Fetal Heart	heart
50	chr3:82272800-82274800	Weak transcription	Fetal Heart	heart

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