Variant report

Variant	nsv508225
Chromosome Location	chr3:84084088-84123022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:84105503..84107630-chr3:84297263..84298774,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
2	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
3	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
4	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
5	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
6	lnc-CADM2-3	chr3:84122482-84122569	l_2403_chr3:84085490-84141354_heart
7	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
8	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
9	lnc-CADM2-3	chr3:84085491-84085540	l_2403_chr3:84085490-84141354_heart
10	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
11	lnc-CADM2-3	chr3:84100679-84100795	l_2403_chr3:84085490-84141354_heart
12	lnc-CADM2-3	chr3:84086102-84086262	l_2403_chr3:84085490-84141354_heart
13	lnc-CADM2-3	chr3:84102327-84102414	l_2403_chr3:84085490-84141354_heart

No data

Variant related genes	Relation type
DIP2A	miRNA target sites
ERMP1	miRNA target sites

Extended variants
information (count: 1007 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564055842	chr3:84084119-84084120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7650584	chr3:84084127-84084128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187458948	chr3:84084139-84084140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7630889	chr3:84084179-84084180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs59005007	chr3:84084183-84084184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554020793	chr3:84084225-84084226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561648360	chr3:84084232-84084233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565802301	chr3:84084266-84084267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539768399	chr3:84084269-84084270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192717895	chr3:84084342-84084343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576516334	chr3:84084425-84084426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543926469	chr3:84084434-84084435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144593910	chr3:84084450-84084451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184048318	chr3:84084452-84084453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36091318	chr3:84084454-84084455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541295017	chr3:84084458-84084459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559910292	chr3:84084519-84084520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547218868	chr3:84084557-84084558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533418329	chr3:84084560-84084561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545299637	chr3:84084604-84084605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57372187	chr3:84084627-84084628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531245393	chr3:84084709-84084710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549826478	chr3:84084823-84084824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371936088	chr3:84084824-84084825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188743808	chr3:84084846-84084847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181549594	chr3:84084848-84084849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547248161	chr3:84084870-84084871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550643714	chr3:84084872-84084873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565873519	chr3:84084926-84084927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113333468	chr3:84084958-84084959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558125606	chr3:84084973-84084974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374920172	chr3:84084992-84084993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570064021	chr3:84085001-84085002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530757895	chr3:84085016-84085017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184643672	chr3:84085056-84085057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574012918	chr3:84085183-84085184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541533342	chr3:84085241-84085242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553244218	chr3:84085261-84085262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58452520	chr3:84085290-84085291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369879452	chr3:84085294-84085295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531769535	chr3:84085306-84085307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577825858	chr3:84085321-84085322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147885412	chr3:84085343-84085344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112105490	chr3:84085450-84085451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141849332	chr3:84085492-84085493	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs190635064	chr3:84085518-84085519	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs2325772	chr3:84085538-84085539	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550449961	chr3:84085539-84085540	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs528937568	chr3:84085547-84085548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182312041	chr3:84085611-84085612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84083000-84089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:84088600-84088800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:84088800-84094800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:84094800-84095000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr3:84095000-84101800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:84102800-84103000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
7	chr3:84115800-84116600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:84116000-84116200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:84116200-84116600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:84116200-84116800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:84116200-84117000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:84116200-84124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:84116400-84116800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:84116800-84122000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:84119800-84120000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:84119800-84120000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:84121200-84121800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr3:84121400-84122200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:84121600-84122600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr3:84121800-84122400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:84122000-84123400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:84122200-84122400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:84122400-84122800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr3:84122400-84123400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr3:84122800-84124200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:84122800-84125200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:84123000-84123200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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