Variant report

Variant	nsv834751
Chromosome Location	chr3:83987488-84133470
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:7)
LncRNA
region (count:49)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:83994663..83995221-chr3:84185471..84186276,2	MCF-7	breast:
2	chr1:234747206..234748910-chr3:84128270..84130556,2	MCF-7	breast:
3	chr3:83991044..83993395-chr3:83994655..83997111,2	MCF-7	breast:
4	chr3:83995499..83996096-chr3:84821714..84822693,2	MCF-7	breast:
5	chr3:83991044..83993395-chr3:83994655..83997111,2	MCF-7	breast:
6	chr2:145590313..145591173-chr3:83995793..83996595,2	MCF-7	breast:
7	chr3:84105503..84107630-chr3:84297263..84298774,2	K562	blood:

(count:49 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
2	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
3	lnc-CADM2-3	chr3:84058064-84058664	XLOC_002722
4	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
5	lnc-CADM2-3	chr3:84017989-84018105	XLOC_002722
6	lnc-CADM2-3	chr3:84017989-84018105	XLOC_002722
7	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
8	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
9	lnc-CADM2-3	chr3:84057302-84057334	XLOC_002722
10	lnc-CADM2-3	chr3:84039795-84039879	XLOC_002722
11	lnc-CADM2-3	chr3:84057302-84057334	XLOC_002722
12	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
13	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
14	lnc-CADM2-3	chr3:84086102-84086262	l_2403_chr3:84085490-84141354_heart
15	lnc-CADM2-3	chr3:84039795-84039879	XLOC_002722
16	lnc-CADM2-3	chr3:84019637-84019724	XLOC_002722
17	lnc-CADM2-3	chr3:84058064-84058664	XLOC_002722
18	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
19	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
20	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
21	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
22	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
23	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
24	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
25	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
26	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
27	lnc-CADM2-3	chr3:84057302-84057334	XLOC_002722
28	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
29	lnc-CADM2-3	chr3:84085491-84085540	l_2403_chr3:84085490-84141354_heart
30	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
31	lnc-CADM2-3	chr3:84019647-84019724	XLOC_002722
32	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
33	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
34	lnc-CADM2-3	chr3:84058064-84058664	XLOC_002722
35	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
36	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
37	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
38	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
39	lnc-CADM2-3	chr3:84122482-84122569	l_2403_chr3:84085490-84141354_heart
40	lnc-CADM2-3	chr3:84017989-84018105	XLOC_002722
41	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
42	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
43	lnc-CADM2-3	chr3:84100679-84100795	l_2403_chr3:84085490-84141354_heart
44	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
45	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
46	lnc-CADM2-3	chr3:84102327-84102414	l_2403_chr3:84085490-84141354_heart
47	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
48	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
49	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722

No data

Variant related genes	Relation type
VEGFA	miRNA target sites
TP53	miRNA target sites
ERMP1	miRNA target sites
HOXC4	miRNA target sites
AIMP1	miRNA target sites
BAK1	miRNA target sites
RUNX2	miRNA target sites
DIP2A	miRNA target sites
C1orf124	miRNA target sites
UBQLN2	miRNA target sites

Extended variants
information (count: 3350 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3350 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374173862	chr3:83987495-83987496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74472470	chr3:83987500-83987501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556345082	chr3:83987508-83987509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564810985	chr3:83987520-83987521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115188966	chr3:83987559-83987560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550497931	chr3:83987571-83987572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190486274	chr3:83987599-83987600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183056602	chr3:83987614-83987615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201720870	chr3:83987639-83987640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548615018	chr3:83987651-83987652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566859315	chr3:83987713-83987714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534354151	chr3:83987769-83987770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559214998	chr3:83987783-83987784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547122048	chr3:83987863-83987864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577540765	chr3:83987895-83987896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199940948	chr3:83987917-83987918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538522941	chr3:83988008-83988009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556936890	chr3:83988010-83988011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199551982	chr3:83988015-83988016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6773147	chr3:83988022-83988023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542268066	chr3:83988068-83988069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200929071	chr3:83988116-83988117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538750294	chr3:83988139-83988140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111651452	chr3:83988154-83988155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558763850	chr3:83988169-83988170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568938545	chr3:83988182-83988183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572874575	chr3:83988198-83988199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539969837	chr3:83988201-83988202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116143215	chr3:83988216-83988217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187795120	chr3:83988237-83988238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139914914	chr3:83988243-83988244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532216895	chr3:83988276-83988277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544100231	chr3:83988308-83988309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562640204	chr3:83988312-83988313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142948550	chr3:83988326-83988327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538174159	chr3:83988345-83988346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4630957	chr3:83988371-83988372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548306800	chr3:83988386-83988387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371331208	chr3:83988389-83988390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191083967	chr3:83988409-83988410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572891238	chr3:83988438-83988439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71104932	chr3:83988480-83988481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397990379	chr3:83988481-83988482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182761136	chr3:83988505-83988506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151114404	chr3:83988508-83988509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187681959	chr3:83988525-83988526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556776722	chr3:83988588-83988589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553458525	chr3:83988591-83988592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62260272	chr3:83988620-83988621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150206779	chr3:83988621-83988622	Enhancers	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:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83985200-83988000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:83985200-83988200	Enhancers	Dnd41	blood
3	chr3:83987200-83988200	Enhancers	Hela-S3	cervix
4	chr3:83987400-83988200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:83987600-83989000	Enhancers	HMEC	breast
6	chr3:83988000-83989000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:83989000-83994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:83990800-83991200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr3:83991000-83991200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:83991200-83991600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr3:83991200-83991600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr3:83991200-83992000	Enhancers	Psoas Muscle	Psoas
13	chr3:83991600-83991800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:83991600-83992000	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr3:83991800-83992000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr3:83992000-83992200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr3:83992000-83992200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr3:83994600-83994800	Enhancers	Fetal Heart	heart
19	chr3:83994800-83995200	Flanking Active TSS	Fetal Heart	heart
20	chr3:83994800-83995800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:83994800-83996200	Enhancers	Hela-S3	cervix
22	chr3:83995000-83995800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:83995000-83996200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:83995200-83996200	Enhancers	NHEK	skin
25	chr3:83995200-83997400	Enhancers	Fetal Heart	heart
26	chr3:83995600-83996200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:83995600-83996200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr3:83995800-83996200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr3:83995800-83997800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:83996200-83998000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:83996200-84001400	Weak transcription	Hela-S3	cervix
32	chr3:83997400-83998000	Weak transcription	Fetal Heart	heart
33	chr3:83997800-83998200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:83998000-83998600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:83998000-83998600	Enhancers	Fetal Heart	heart
36	chr3:83998200-84001400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:83998600-84001200	Weak transcription	Fetal Heart	heart
38	chr3:83998600-84001800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:84001200-84002400	Enhancers	Fetal Heart	heart
40	chr3:84001200-84003400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:84001400-84002400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:84001400-84003000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:84001400-84003000	Enhancers	Hela-S3	cervix
44	chr3:84001800-84002600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:84002000-84002400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:84002200-84002600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:84002400-84002800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:84002400-84002800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr3:84002400-84002800	Enhancers	Brain Anterior Caudate	brain
50	chr3:84002400-84003000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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