Variant report

Variant	nsv590775
Chromosome Location	chr3:81598531-81599580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81596549..81599236-chr3:81601556..81604295,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-8	chr3:81597025-81598649	NONHSAT090615
2	lnc-CADM2-8	chr3:81598550-81598657	ENSG00000249130

Variant related genes	Relation type
KIAA1598	miRNA target sites

Extended variants
information (count: 43 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6777831	chr3:81598531-81598532	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183390111	chr3:81598542-81598543	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs547769349	chr3:81598544-81598545	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs550700302	chr3:81598591-81598592	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs187750373	chr3:81598631-81598632	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs12891402	chr3:81598662-81598663	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569279976	chr3:81598663-81598664	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530118222	chr3:81598713-81598714	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550175677	chr3:81598716-81598717	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570036674	chr3:81598738-81598739	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192269442	chr3:81598744-81598745	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9815184	chr3:81598771-81598772	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565428275	chr3:81598793-81598794	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185328260	chr3:81598799-81598800	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188199886	chr3:81598800-81598801	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs6802452	chr3:81598817-81598818	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537065845	chr3:81598839-81598840	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs115889782	chr3:81598864-81598865	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577234949	chr3:81598939-81598940	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533753434	chr3:81598969-81598970	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs57623955	chr3:81598990-81598991	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs375960961	chr3:81599011-81599012	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148299439	chr3:81599039-81599040	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs372679701	chr3:81599072-81599073	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs141412442	chr3:81599085-81599086	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541128210	chr3:81599088-81599089	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs79036757	chr3:81599089-81599090	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs561451206	chr3:81599120-81599121	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs146344619	chr3:81599136-81599137	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550176897	chr3:81599239-81599240	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs192961209	chr3:81599245-81599246	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532708355	chr3:81599263-81599264	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs139605150	chr3:81599320-81599321	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs184676866	chr3:81599336-81599337	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs535017974	chr3:81599340-81599341	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188387087	chr3:81599341-81599342	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs180860761	chr3:81599432-81599433	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs370209473	chr3:81599453-81599454	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113415227	chr3:81599457-81599458	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536618220	chr3:81599460-81599461	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556948755	chr3:81599475-81599476	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146128769	chr3:81599495-81599496	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs542347612	chr3:81599516-81599517	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81581600-81628200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:81582800-81613200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:81583400-81603800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:81583400-81613200	Weak transcription	Lung	lung
5	chr3:81583600-81613200	Weak transcription	Primary T cells from cord blood	blood
6	chr3:81583600-81625600	Weak transcription	HUVEC	blood vessel
7	chr3:81583800-81599400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:81583800-81603400	Weak transcription	NHLF	lung
9	chr3:81583800-81608000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:81583800-81608000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:81584200-81598600	Weak transcription	Osteobl	bone
12	chr3:81584200-81604000	Weak transcription	Aorta	Aorta
13	chr3:81584200-81636600	Weak transcription	Placenta	Placenta
14	chr3:81584400-81603400	Weak transcription	HSMMtube	muscle
15	chr3:81584600-81612200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:81584600-81613000	Weak transcription	Ovary	ovary
17	chr3:81584800-81610400	Weak transcription	HSMM	muscle
18	chr3:81585400-81599800	Weak transcription	Psoas Muscle	Psoas
19	chr3:81586200-81599400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:81586200-81610800	Weak transcription	Adipose Nuclei	Adipose
21	chr3:81588400-81612200	Weak transcription	Left Ventricle	heart
22	chr3:81588600-81603200	Weak transcription	Liver	Liver
23	chr3:81591000-81600600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:81593000-81598600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:81594600-81598600	Strong transcription	Dnd41	blood
26	chr3:81596200-81600000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:81597200-81598600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:81597200-81598800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
29	chr3:81597200-81599000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:81597200-81599600	Weak transcription	Right Ventricle	heart
31	chr3:81597400-81598800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:81597400-81604000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:81597600-81598600	Weak transcription	NHDF-Ad	bronchial
34	chr3:81597600-81613200	Weak transcription	Primary B cells from cord blood	blood
35	chr3:81598000-81598800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:81598000-81603800	Weak transcription	Fetal Heart	heart
37	chr3:81598200-81625600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:81598400-81598800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr3:81598400-81598800	Enhancers	K562	blood
40	chr3:81598600-81598800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr3:81598600-81599600	ZNF genes & repeats	Dnd41	blood
42	chr3:81598600-81599800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:81598600-81600600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:81598600-81600800	Enhancers	Osteobl	bone
45	chr3:81598600-81601400	Enhancers	NHDF-Ad	bronchial
46	chr3:81598800-81599800	Weak transcription	K562	blood
47	chr3:81598800-81600000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:81598800-81600400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:81598800-81603600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:81598800-81613200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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