Variant report

Variant	esv1836659
Chromosome Location	chr3:84101263-84108706
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	chr3:84105503..84107630-chr3:84297263..84298774,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-3	chr3:84102327-84102414	l_2403_chr3:84085490-84141354_heart
2	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
3	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722

Extended variants
information (count: 65 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9856930	chr3:84101263-84101264	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34634585	chr3:84101295-84101296	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs72908391	chr3:84101369-84101370	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190047635	chr3:84101378-84101379	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs192944949	chr3:84101451-84101452	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs146122828	chr3:84101465-84101466	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs552475225	chr3:84101483-84101484	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs115645316	chr3:84101544-84101545	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs185545673	chr3:84101555-84101556	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs72908392	chr3:84101557-84101558	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190523289	chr3:84101564-84101565	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs180762201	chr3:84101582-84101583	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs76318153	chr3:84101647-84101648	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs565421245	chr3:84101705-84101706	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs185259258	chr3:84101794-84101795	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs377598276	chr3:84101828-84101829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs114031855	chr3:84101886-84101887	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs546162953	chr3:84101900-84101901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs149682339	chr3:84101913-84101914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576349765	chr3:84101932-84101933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs188510424	chr3:84101936-84101937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs562151937	chr3:84101945-84101946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs529728751	chr3:84101968-84101969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs547926519	chr3:84101971-84101972	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs560065265	chr3:84102009-84102010	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs370495758	chr3:84102010-84102011	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs145521610	chr3:84102022-84102023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs570699766	chr3:84102030-84102031	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs531643732	chr3:84102073-84102074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs564010489	chr3:84102087-84102088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs181059547	chr3:84102133-84102134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs185486859	chr3:84102153-84102154	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs568507513	chr3:84102180-84102181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs535952017	chr3:84102254-84102255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs539652236	chr3:84102344-84102345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs562864592	chr3:84102361-84102362	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs75037278	chr3:84102398-84102399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs183514888	chr3:84102422-84102423	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs566055281	chr3:84102446-84102447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs560734467	chr3:84102475-84102476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs539994878	chr3:84102503-84102504	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs558071385	chr3:84102580-84102581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs11127832	chr3:84102634-84102635	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371781150	chr3:84102760-84102761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs376042790	chr3:84102763-84102764	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs369692905	chr3:84102766-84102767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs113086986	chr3:84102769-84102770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs71104942	chr3:84102793-84102794	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs376064862	chr3:84102795-84102796	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs543745193	chr3:84102917-84102918	Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84095000-84101800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:84102800-84103000	Flanking Bivalent TSS/Enh	Left Ventricle	heart

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