Variant report

Variant	nsv877081
Chromosome Location	chr3:84094818-84199075
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:4)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:84179427..84182289-chr3:84355686..84357544,2	K562	blood:
2	chr1:234747206..234748910-chr3:84128270..84130556,2	MCF-7	breast:
3	chr3:83994663..83995221-chr3:84185471..84186276,2	MCF-7	breast:
4	chr3:84105503..84107630-chr3:84297263..84298774,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-3	chr3:84139992-84140024	l_2403_chr3:84085490-84141354_heart
2	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
3	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
4	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
5	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
6	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
7	lnc-CADM2-3	chr3:84098594-84103276	XLOC_002722
8	lnc-CADM2-3	chr3:84094756-84095040	XLOC_002722
9	lnc-CADM2-3	chr3:84094756-84096044	XLOC_002722
10	lnc-CADM2-3	chr3:84122482-84122569	l_2403_chr3:84085490-84141354_heart
11	lnc-CADM2-3	chr3:84102327-84102414	l_2403_chr3:84085490-84141354_heart
12	lnc-CADM2-3	chr3:84100679-84100795	l_2403_chr3:84085490-84141354_heart
13	lnc-CADM2-3	chr3:84177446-84177730	l_2403_chr3:84085490-84141354_heart
14	lnc-CADM2-3	chr3:84140754-84141354	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: 1560 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1560 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4856241	chr3:84094818-84094819	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542354423	chr3:84094845-84094846	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs528571823	chr3:84094853-84094854	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs79481412	chr3:84094886-84094887	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs375193956	chr3:84094901-84094902	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs80228883	chr3:84094918-84094919	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs374231941	chr3:84094977-84094978	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs546497321	chr3:84094992-84094993	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs111933077	chr3:84095004-84095005	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs188897446	chr3:84095031-84095032	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs550259570	chr3:84095033-84095034	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs181675089	chr3:84095096-84095097	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs566593557	chr3:84095169-84095170	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs138074830	chr3:84095201-84095202	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs553051118	chr3:84095203-84095204	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs533962763	chr3:84095213-84095214	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs566306803	chr3:84095283-84095284	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs143646675	chr3:84095307-84095308	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs147476142	chr3:84095317-84095318	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs113488098	chr3:84095352-84095353	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs538148657	chr3:84095374-84095375	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs369632524	chr3:84095375-84095376	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs556245828	chr3:84095426-84095427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs141912726	chr3:84095442-84095443	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs186330529	chr3:84095496-84095497	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs554336339	chr3:84095553-84095554	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs72908384	chr3:84095555-84095556	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191136909	chr3:84095569-84095570	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs71328461	chr3:84095594-84095595	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs77854196	chr3:84095595-84095596	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs531869227	chr3:84095625-84095626	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs544134748	chr3:84095644-84095645	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs562139783	chr3:84095685-84095686	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs529667294	chr3:84095695-84095696	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs116298073	chr3:84095766-84095767	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs150613929	chr3:84095826-84095827	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs566935300	chr3:84095834-84095835	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs139693133	chr3:84095861-84095862	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs180839322	chr3:84095864-84095865	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs572800896	chr3:84095893-84095894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs537742577	chr3:84095906-84095907	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs550097145	chr3:84095913-84095914	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs568443825	chr3:84095963-84095964	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs149840424	chr3:84095971-84095972	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs541902829	chr3:84096012-84096013	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs556475313	chr3:84096033-84096034	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs376533999	chr3:84096036-84096037	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs572524898	chr3:84096085-84096086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146397689	chr3:84096098-84096099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186234321	chr3:84096117-84096118	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:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84094800-84095000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
2	chr3:84095000-84101800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:84102800-84103000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
4	chr3:84115800-84116600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:84116000-84116200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:84116200-84116600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:84116200-84116800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:84116200-84117000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:84116200-84124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:84116400-84116800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:84116800-84122000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:84119800-84120000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:84119800-84120000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:84121200-84121800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr3:84121400-84122200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:84121600-84122600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr3:84121800-84122400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:84122000-84123400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:84122200-84122400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:84122400-84122800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr3:84122400-84123400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr3:84122800-84124200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:84122800-84125200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:84123000-84123200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:84124000-84124200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:84135600-84136400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:84135800-84136000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:84141600-84142200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:84145800-84146000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:84146000-84156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:84147400-84148200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:84148200-84150400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:84150400-84150800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:84155000-84155400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr3:84155200-84157400	Enhancers	NHEK	skin
36	chr3:84155400-84156000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:84156000-84157600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:84156200-84157400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:84156200-84157600	Enhancers	NH-A	brain
40	chr3:84156400-84156600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:84156400-84156800	Enhancers	HMEC	breast
42	chr3:84156400-84157400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:84156400-84157800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:84156400-84158200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:84156600-84157400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:84156600-84157600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:84156600-84158000	Enhancers	Hela-S3	cervix
48	chr3:84156600-84158800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:84156800-84157000	Enhancers	A549	lung
50	chr3:84156800-84157600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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