Variant report

Variant	esv10285
Chromosome Location	chr3:81596296-81599606
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	chr3:81598550-81598657	ENSG00000249130
2	lnc-CADM2-8	chr3:81597097-81598171	ENSG00000249130
3	lnc-CADM2-8	chr3:81597025-81598649	NONHSAT090615

Variant related genes	Relation type
SLC25A22	miRNA target sites
KIAA1598	miRNA target sites

Extended variants
information (count: 131 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547188028	chr3:81596296-81596297	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567078052	chr3:81596306-81596307	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370983797	chr3:81596376-81596377	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374522505	chr3:81596397-81596398	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77604835	chr3:81596421-81596422	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139675219	chr3:81596480-81596481	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538217009	chr3:81596488-81596489	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370745582	chr3:81596490-81596491	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186105977	chr3:81596579-81596580	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149801263	chr3:81596625-81596626	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189025433	chr3:81596628-81596629	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146317588	chr3:81596678-81596679	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554508004	chr3:81596714-81596715	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367780600	chr3:81596719-81596720	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574135047	chr3:81596720-81596721	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561668731	chr3:81596727-81596728	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527241448	chr3:81596749-81596750	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144848124	chr3:81596777-81596778	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56681369	chr3:81596802-81596803	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60065556	chr3:81596814-81596815	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34555531	chr3:81596897-81596898	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182020373	chr3:81597000-81597001	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115182479	chr3:81597010-81597011	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373257637	chr3:81597018-81597019	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186363289	chr3:81597041-81597042	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs576093630	chr3:81597052-81597053	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs139730389	chr3:81597053-81597054	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs376870100	chr3:81597111-81597112	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs564587287	chr3:81597137-81597138	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs144390457	chr3:81597148-81597149	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs539283298	chr3:81597161-81597162	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs146644680	chr3:81597182-81597183	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs368607602	chr3:81597208-81597209	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs560865834	chr3:81597241-81597242	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs569715635	chr3:81597244-81597245	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs6805105	chr3:81597257-81597258	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549738020	chr3:81597259-81597260	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs554604987	chr3:81597262-81597263	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs373617850	chr3:81597269-81597270	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs190814740	chr3:81597287-81597288	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs115777945	chr3:81597317-81597318	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs551794361	chr3:81597337-81597338	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs375432035	chr3:81597340-81597341	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs369745868	chr3:81597374-81597375	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs181559892	chr3:81597381-81597382	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs567883067	chr3:81597393-81597394	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs533930021	chr3:81597409-81597410	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs186574563	chr3:81597432-81597433	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs12631775	chr3:81597447-81597448	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576086432	chr3:81597472-81597473	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	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:80 , 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	chr3:81582800-81597000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:81582800-81613200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:81583000-81598200	Weak transcription	NH-A	brain
5	chr3:81583400-81603800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:81583400-81613200	Weak transcription	Lung	lung
7	chr3:81583600-81613200	Weak transcription	Primary T cells from cord blood	blood
8	chr3:81583600-81625600	Weak transcription	HUVEC	blood vessel
9	chr3:81583800-81599400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:81583800-81603400	Weak transcription	NHLF	lung
11	chr3:81583800-81608000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:81583800-81608000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:81584200-81598600	Weak transcription	Osteobl	bone
14	chr3:81584200-81604000	Weak transcription	Aorta	Aorta
15	chr3:81584200-81636600	Weak transcription	Placenta	Placenta
16	chr3:81584400-81596400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:81584400-81603400	Weak transcription	HSMMtube	muscle
18	chr3:81584600-81596400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:81584600-81598000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:81584600-81612200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:81584600-81613000	Weak transcription	Ovary	ovary
22	chr3:81584800-81610400	Weak transcription	HSMM	muscle
23	chr3:81585400-81596800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:81585400-81597200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:81585400-81599800	Weak transcription	Psoas Muscle	Psoas
26	chr3:81586200-81599400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:81586200-81610800	Weak transcription	Adipose Nuclei	Adipose
28	chr3:81588400-81612200	Weak transcription	Left Ventricle	heart
29	chr3:81588600-81603200	Weak transcription	Liver	Liver
30	chr3:81589000-81596400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:81591000-81600600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:81593000-81598600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:81594600-81598600	Strong transcription	Dnd41	blood
34	chr3:81594800-81596800	Weak transcription	Fetal Lung	lung
35	chr3:81595400-81596400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:81596200-81596400	Genic enhancers	NHDF-Ad	bronchial
37	chr3:81596200-81597200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr3:81596200-81597200	Strong transcription	Right Ventricle	heart
39	chr3:81596200-81597600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:81596200-81598000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:81596200-81600000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:81596400-81597200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:81596400-81597400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr3:81596400-81597400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:81596400-81597600	Strong transcription	NHDF-Ad	bronchial
46	chr3:81596800-81597000	ZNF genes & repeats	Fetal Lung	lung
47	chr3:81596800-81597200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr3:81596800-81597400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr3:81597000-81597600	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr3:81597200-81598600	Weak transcription	Muscle Satellite Cultured Cells	--

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