Variant report

Variant	nsv877044
Chromosome Location	chr3:82214617-82266033
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	chr3:82234526-82234604	NONHSAT090628
2	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440
3	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
4	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440
5	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
6	lnc-CADM2-6	chr3:82251480-82251605	NONHSAT090628

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

Extended variants
information (count: 760 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1534322	chr3:82214617-82214618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540377032	chr3:82214622-82214623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530541383	chr3:82214662-82214663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550646513	chr3:82214741-82214742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141782941	chr3:82226406-82226407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188098763	chr3:82226423-82226424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563451810	chr3:82226474-82226475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577244858	chr3:82226484-82226485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545793408	chr3:82226487-82226488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7634781	chr3:82226496-82226497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115815904	chr3:82226508-82226509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35468238	chr3:82226543-82226544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79353498	chr3:82226604-82226605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147091553	chr3:82226608-82226609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530250415	chr3:82226622-82226623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550412739	chr3:82226628-82226629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111968316	chr3:82226630-82226631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4398457	chr3:82226631-82226632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111308969	chr3:82226643-82226644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377285963	chr3:82226705-82226706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538996896	chr3:82226713-82226714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191937119	chr3:82226895-82226896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532067369	chr3:82226902-82226903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184361184	chr3:82226950-82226951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35564113	chr3:82226997-82226998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554788217	chr3:82227020-82227021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371343124	chr3:82227094-82227095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564284222	chr3:82227147-82227148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574540958	chr3:82227265-82227266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536838617	chr3:82227303-82227304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557220625	chr3:82227304-82227305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533368534	chr3:82227340-82227341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142640599	chr3:82227344-82227345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541279774	chr3:82227489-82227490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34462127	chr3:82227523-82227524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549956641	chr3:82227554-82227555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9848134	chr3:82227635-82227636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541878404	chr3:82227668-82227669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552070375	chr3:82227673-82227674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189133615	chr3:82227716-82227717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543655260	chr3:82227728-82227729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113599006	chr3:82227734-82227735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563583016	chr3:82227797-82227798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73844129	chr3:82227833-82227834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181855583	chr3:82227840-82227841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529382222	chr3:82227853-82227854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73135737	chr3:82227874-82227875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565559833	chr3:82227879-82227880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148204170	chr3:82227883-82227884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185714528	chr3:82227899-82227900	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82213800-82214800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:82226400-82228000	Enhancers	Ovary	ovary
3	chr3:82227800-82228000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:82228600-82228800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:82230800-82232000	Enhancers	Dnd41	blood
6	chr3:82232800-82233400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:82233200-82233400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:82233600-82238200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:82235000-82235600	Enhancers	Ovary	ovary
10	chr3:82235200-82235400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:82238200-82239000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:82243800-82244600	Enhancers	HUVEC	blood vessel
13	chr3:82249800-82252400	Enhancers	Fetal Heart	heart
14	chr3:82252400-82257400	Weak transcription	Fetal Heart	heart
15	chr3:82254200-82254800	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:82254200-82258000	Enhancers	Primary B cells from cord blood	blood
17	chr3:82254800-82255800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:82255800-82257400	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:82257400-82258000	Enhancers	Fetal Heart	heart
20	chr3:82258000-82262800	Weak transcription	Fetal Heart	heart
21	chr3:82258800-82259000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:82259000-82260600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:82262800-82263800	Enhancers	Fetal Heart	heart

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