Variant report

Variant	esv3463408
Chromosome Location	chr3:81595466-81599755
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	chr3:81597025-81598649	NONHSAT090615
3	lnc-CADM2-8	chr3:81597097-81598171	ENSG00000249130

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

Extended variants
information (count: 181 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76898927	chr3:81595477-81595478	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568446030	chr3:81595491-81595492	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535869777	chr3:81595533-81595534	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547664489	chr3:81595548-81595549	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377223124	chr3:81595571-81595572	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112297535	chr3:81595574-81595575	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115166333	chr3:81595577-81595578	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529033083	chr3:81595589-81595590	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548690919	chr3:81595590-81595591	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558831487	chr3:81595674-81595675	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370111461	chr3:81595700-81595701	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111778809	chr3:81595705-81595706	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112749020	chr3:81595727-81595728	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111883925	chr3:81595742-81595743	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189813856	chr3:81595759-81595760	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551608638	chr3:81595850-81595851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571220476	chr3:81595852-81595853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533719461	chr3:81595883-81595884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547226782	chr3:81595894-81595895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138915090	chr3:81595924-81595925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372451893	chr3:81595944-81595945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111340693	chr3:81595953-81595954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111869309	chr3:81596010-81596011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141854947	chr3:81596047-81596048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575554816	chr3:81596049-81596050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537867466	chr3:81596091-81596092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9874943	chr3:81596092-81596093	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532584158	chr3:81596098-81596099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574445862	chr3:81596109-81596110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578256885	chr3:81596110-81596111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62265417	chr3:81596123-81596124	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150620834	chr3:81596132-81596133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577414441	chr3:81596154-81596155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546359229	chr3:81596160-81596161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531374654	chr3:81596210-81596211	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557663898	chr3:81596214-81596215	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115657265	chr3:81596232-81596233	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542658438	chr3:81596236-81596237	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62265418	chr3:81596246-81596247	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531299142	chr3:81596250-81596251	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551110216	chr3:81596258-81596259	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564825520	chr3:81596269-81596270	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539924474	chr3:81596276-81596277	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181136491	chr3:81596292-81596293	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547188028	chr3:81596296-81596297	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567078052	chr3:81596306-81596307	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370983797	chr3:81596376-81596377	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374522505	chr3:81596397-81596398	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77604835	chr3:81596421-81596422	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139675219	chr3:81596480-81596481	ZNF genes & repeats Weak transcription Strong transcription	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:87 , 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	chr3:81583200-81596200	Weak transcription	Right Ventricle	heart
6	chr3:81583400-81603800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:81583400-81613200	Weak transcription	Lung	lung
8	chr3:81583600-81596200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:81583600-81613200	Weak transcription	Primary T cells from cord blood	blood
10	chr3:81583600-81625600	Weak transcription	HUVEC	blood vessel
11	chr3:81583800-81599400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:81583800-81603400	Weak transcription	NHLF	lung
13	chr3:81583800-81608000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:81583800-81608000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:81584200-81598600	Weak transcription	Osteobl	bone
16	chr3:81584200-81604000	Weak transcription	Aorta	Aorta
17	chr3:81584200-81636600	Weak transcription	Placenta	Placenta
18	chr3:81584400-81596400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:81584400-81603400	Weak transcription	HSMMtube	muscle
20	chr3:81584600-81596400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:81584600-81598000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:81584600-81612200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:81584600-81613000	Weak transcription	Ovary	ovary
24	chr3:81584800-81596200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:81584800-81610400	Weak transcription	HSMM	muscle
26	chr3:81585400-81596800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:81585400-81597200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:81585400-81599800	Weak transcription	Psoas Muscle	Psoas
29	chr3:81586200-81599400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:81586200-81610800	Weak transcription	Adipose Nuclei	Adipose
31	chr3:81588400-81612200	Weak transcription	Left Ventricle	heart
32	chr3:81588600-81603200	Weak transcription	Liver	Liver
33	chr3:81589000-81596200	Weak transcription	NHDF-Ad	bronchial
34	chr3:81589000-81596400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:81591000-81600600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:81593000-81598600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:81594000-81596200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:81594600-81598600	Strong transcription	Dnd41	blood
39	chr3:81594800-81596800	Weak transcription	Fetal Lung	lung
40	chr3:81595000-81595800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:81595400-81596400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:81595800-81596200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:81596200-81596400	Genic enhancers	NHDF-Ad	bronchial
44	chr3:81596200-81597200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr3:81596200-81597200	Strong transcription	Right Ventricle	heart
46	chr3:81596200-81597600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:81596200-81598000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:81596200-81600000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:81596400-81597200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:81596400-81597400	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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