Variant report

Variant	nsv877078
Chromosome Location	chr3:83991464-84199075
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:9)
LncRNA
region (count:52)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:83991044..83993395-chr3:83994655..83997111,2	MCF-7	breast:
2	chr3:84105503..84107630-chr3:84297263..84298774,2	K562	blood:
3	chr3:83994663..83995221-chr3:84185471..84186276,2	MCF-7	breast:
4	chr2:145590313..145591173-chr3:83995793..83996595,2	MCF-7	breast:
5	chr3:84179427..84182289-chr3:84355686..84357544,2	K562	blood:
6	chr3:83995499..83996096-chr3:84821714..84822693,2	MCF-7	breast:
7	chr1:234747206..234748910-chr3:84128270..84130556,2	MCF-7	breast:
8	chr3:83991044..83993395-chr3:83994655..83997111,2	MCF-7	breast:
9	chr3:83994663..83995221-chr3:84185471..84186276,2	MCF-7	breast:

(count:52 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
2	lnc-CADM2-3	chr3:84017989-84018105	XLOC_002722
3	lnc-CADM2-3	chr3:84085491-84085540	l_2403_chr3:84085490-84141354_heart
4	lnc-CADM2-3	chr3:84058064-84058664	XLOC_002722
5	lnc-CADM2-3	chr3:84100679-84100795	l_2403_chr3:84085490-84141354_heart
6	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
7	lnc-CADM2-3	chr3:84058064-84058664	XLOC_002722
8	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
9	lnc-CADM2-3	chr3:84139992-84140024	l_2403_chr3:84085490-84141354_heart
10	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
11	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
12	lnc-CADM2-3	chr3:84019647-84019724	XLOC_002722
13	lnc-CADM2-3	chr3:84057302-84057334	XLOC_002722
14	lnc-CADM2-3	chr3:84039795-84039879	XLOC_002722
15	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
16	lnc-CADM2-3	chr3:84122482-84122569	l_2403_chr3:84085490-84141354_heart
17	lnc-CADM2-3	chr3:84039795-84039879	XLOC_002722
18	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
19	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
20	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
21	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
22	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
23	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
24	lnc-CADM2-3	chr3:84140754-84141354	l_2403_chr3:84085490-84141354_heart
25	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
26	lnc-CADM2-3	chr3:84017989-84018105	XLOC_002722
27	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
28	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
29	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
30	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
31	lnc-CADM2-3	chr3:84057302-84057334	XLOC_002722
32	lnc-CADM2-3	chr3:84102327-84102414	l_2403_chr3:84085490-84141354_heart
33	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
34	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
35	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
36	lnc-CADM2-3	chr3:84019637-84019724	XLOC_002722
37	lnc-CADM2-3	chr3:84177446-84177730	l_2403_chr3:84085490-84141354_heart
38	lnc-CADM2-3	chr3:84002801-84002850	XLOC_002722
39	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
40	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
41	lnc-CADM2-3	chr3:84058064-84058664	XLOC_002722
42	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
43	lnc-CADM2-3	chr3:84039792-84039879	XLOC_002722
44	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
45	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
46	lnc-CADM2-3	chr3:84003412-84003572	XLOC_002722
47	lnc-CADM2-3	chr3:84017989-84018105	XLOC_002722
48	lnc-CADM2-3	chr3:84057302-84057334	XLOC_002722
49	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
50	lnc-CADM2-3	chr3:84086102-84086262	l_2403_chr3:84085490-84141354_heart

No data

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

Extended variants
information (count: 4086 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:4086 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4339118	chr3:83991464-83991465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139834964	chr3:83991561-83991562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112427049	chr3:83991563-83991564	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs146756496	chr3:83991564-83991565	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569946290	chr3:83991573-83991574	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537025729	chr3:83991576-83991577	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567909235	chr3:83991594-83991595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370168901	chr3:83991638-83991639	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576299346	chr3:83991641-83991642	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76400342	chr3:83991658-83991659	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114850955	chr3:83991660-83991661	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547272767	chr3:83991666-83991667	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577770218	chr3:83991677-83991678	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554965524	chr3:83991751-83991752	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570440095	chr3:83991760-83991761	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563794624	chr3:83991788-83991789	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539032951	chr3:83991799-83991800	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556235458	chr3:83991805-83991806	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190940835	chr3:83991883-83991884	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576424427	chr3:83991901-83991902	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576099882	chr3:83991915-83991916	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542984157	chr3:83992007-83992008	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561714016	chr3:83992016-83992017	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184092792	chr3:83992017-83992018	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148444057	chr3:83992059-83992060	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376526795	chr3:83992077-83992078	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565787319	chr3:83992095-83992096	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142623576	chr3:83992168-83992169	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555232473	chr3:83992230-83992231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537293177	chr3:83992265-83992266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13092277	chr3:83992296-83992297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79977205	chr3:83992305-83992306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375330474	chr3:83992306-83992307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4271927	chr3:83992307-83992308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76438644	chr3:83992328-83992329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113836977	chr3:83992366-83992367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72906324	chr3:83992368-83992369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549049741	chr3:83992397-83992398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372747386	chr3:83992402-83992403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567649029	chr3:83992432-83992433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182869455	chr3:83992473-83992474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151266849	chr3:83992480-83992481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553010552	chr3:83992526-83992527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577731420	chr3:83992538-83992539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538775092	chr3:83992562-83992563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575072520	chr3:83992565-83992566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141341192	chr3:83992566-83992567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186903419	chr3:83992584-83992585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575788118	chr3:83992593-83992594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543301748	chr3:83992627-83992628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83989000-83994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:83991200-83991600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr3:83991200-83991600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr3:83991200-83992000	Enhancers	Psoas Muscle	Psoas
5	chr3:83991600-83991800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr3:83991600-83992000	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr3:83991800-83992000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr3:83992000-83992200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:83992000-83992200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr3:83994600-83994800	Enhancers	Fetal Heart	heart
11	chr3:83994800-83995200	Flanking Active TSS	Fetal Heart	heart
12	chr3:83994800-83995800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:83994800-83996200	Enhancers	Hela-S3	cervix
14	chr3:83995000-83995800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:83995000-83996200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:83995200-83996200	Enhancers	NHEK	skin
17	chr3:83995200-83997400	Enhancers	Fetal Heart	heart
18	chr3:83995600-83996200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:83995600-83996200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr3:83995800-83996200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:83995800-83997800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:83996200-83998000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:83996200-84001400	Weak transcription	Hela-S3	cervix
24	chr3:83997400-83998000	Weak transcription	Fetal Heart	heart
25	chr3:83997800-83998200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:83998000-83998600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:83998000-83998600	Enhancers	Fetal Heart	heart
28	chr3:83998200-84001400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:83998600-84001200	Weak transcription	Fetal Heart	heart
30	chr3:83998600-84001800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:84001200-84002400	Enhancers	Fetal Heart	heart
32	chr3:84001200-84003400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:84001400-84002400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:84001400-84003000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:84001400-84003000	Enhancers	Hela-S3	cervix
36	chr3:84001800-84002600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:84002000-84002400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:84002200-84002600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:84002400-84002800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:84002400-84002800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:84002400-84002800	Enhancers	Brain Anterior Caudate	brain
42	chr3:84002400-84003000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:84002400-84003000	Flanking Active TSS	Fetal Heart	heart
44	chr3:84002400-84003200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:84002400-84003400	Enhancers	NHEK	skin
46	chr3:84002600-84002800	Enhancers	Brain Cingulate Gyrus	brain
47	chr3:84002600-84003000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:84002600-84003000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr3:84002600-84003000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:84002600-84003000	Enhancers	NH-A	brain

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