Variant report

Variant	esv3343800
Chromosome Location	chr9:3559495-3616759
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:6)
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	chr9:3594034..3597239-chr9:3602535..3604961,3	K562	blood:
2	chr9:3532661..3534867-chr9:3592564..3594236,2	K562	blood:
3	chr9:3605941..3608408-chr9:3657516..3659534,2	K562	blood:
4	chr9:3561040..3563255-chr9:3569242..3571583,2	K562	blood:
5	chr9:3566363..3569263-chr9:3574839..3576405,2	MCF-7	breast:
6	chr9:3594034..3597239-chr9:3602535..3604961,3	K562	blood:
7	chr9:3531967..3534867-chr9:3591369..3594064,2	K562	blood:
8	chr9:3561040..3563255-chr9:3569242..3571583,2	K562	blood:
9	chr9:3566363..3569263-chr9:3574839..3576405,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNV2-3	chr9:3602523-3602584	ENSG00000232104.2
2	lnc-KCNV2-3	chr9:3602535-3602584	ENSG00000232104
3	lnc-KCNV2-3	chr9:3606693-3606738	ENSG00000232104
4	lnc-KCNV2-3	chr9:3568794-3568890	ENSG00000232104
5	lnc-KCNV2-3	chr9:3568794-3568889	ENSG00000232104.2
6	lnc-KCNV2-3	chr9:3606693-3606738	ENSG00000232104.2

No data

Extended variants
information (count: 2090 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2090 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552967258	chr9:3559518-3559519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs552293417	chr9:3559528-3559529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201615126	chr9:3559533-3559534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565774925	chr9:3559552-3559553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs534641816	chr9:3559564-3559565	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554585683	chr9:3559570-3559571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568034943	chr9:3559575-3559576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs200073972	chr9:3559604-3559605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537367742	chr9:3559646-3559647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs556935491	chr9:3559648-3559649	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182958289	chr9:3559689-3559690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545669875	chr9:3559702-3559703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs200895311	chr9:3559711-3559712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558659501	chr9:3559716-3559717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs566435697	chr9:3559722-3559723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572185327	chr9:3559730-3559731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541097700	chr9:3559738-3559739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201771085	chr9:3559792-3559793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560960104	chr9:3559820-3559821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530001338	chr9:3559843-3559844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188912935	chr9:3559845-3559846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7045092	chr9:3559846-3559847	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs193222346	chr9:3559847-3559848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552791224	chr9:3559853-3559854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374420239	chr9:3559874-3559875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182666682	chr9:3559919-3559920	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528219909	chr9:3559978-3559979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187695913	chr9:3560045-3560046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568059520	chr9:3560059-3560060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs536596932	chr9:3560074-3560075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557270403	chr9:3560085-3560086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143668667	chr9:3560117-3560118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539647896	chr9:3560121-3560122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201365617	chr9:3560135-3560136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369841937	chr9:3560157-3560158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552769258	chr9:3560211-3560212	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs372870492	chr9:3560212-3560213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs202091965	chr9:3560225-3560226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541134616	chr9:3560249-3560250	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377736093	chr9:3560295-3560296	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs115638579	chr9:3560305-3560306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs574819827	chr9:3560372-3560373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191726342	chr9:3560410-3560411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564046758	chr9:3560450-3560451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577448849	chr9:3560461-3560462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs546493101	chr9:3560531-3560532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs184126577	chr9:3560540-3560541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555279785	chr9:3560547-3560548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs188524836	chr9:3560554-3560555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575244994	chr9:3560578-3560579	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3527400-3567600	Weak transcription	Ovary	ovary
2	chr9:3528800-3560600	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:3529000-3579000	Weak transcription	HSMMtube	muscle
4	chr9:3531000-3575800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:3531200-3564600	Weak transcription	HSMM	muscle
6	chr9:3531800-3579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:3546600-3563600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr9:3547600-3572800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:3547800-3562800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:3548200-3560200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:3549400-3570200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:3549800-3562600	Weak transcription	Lung	lung
13	chr9:3549800-3572800	Weak transcription	Right Ventricle	heart
14	chr9:3550000-3566000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:3550000-3593000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:3551000-3571200	Weak transcription	Thymus	Thymus
17	chr9:3551400-3563000	Weak transcription	Primary B cells from cord blood	blood
18	chr9:3552400-3563000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr9:3552600-3563200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr9:3554400-3560200	Weak transcription	Primary T cells from cord blood	blood
21	chr9:3554400-3564000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:3554400-3576000	Weak transcription	Adipose Nuclei	Adipose
23	chr9:3554400-3576400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr9:3554400-3579400	Weak transcription	Left Ventricle	heart
25	chr9:3554600-3569400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr9:3554800-3578000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:3555800-3560200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:3557000-3562800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:3558800-3561400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:3559400-3563400	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:3560200-3560800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr9:3560200-3560800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chr9:3560800-3571000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr9:3560800-3571400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:3561400-3562000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:3562000-3565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:3562200-3563000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:3562600-3563200	Strong transcription	Lung	lung
39	chr9:3562800-3563600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:3562800-3563800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:3562800-3568000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr9:3563000-3563800	Strong transcription	Primary B cells from cord blood	blood
43	chr9:3563000-3563800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr9:3563200-3563800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr9:3563200-3565400	Weak transcription	Lung	lung
46	chr9:3563600-3566000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr9:3563800-3566000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr9:3563800-3567200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr9:3563800-3576200	Weak transcription	Primary B cells from cord blood	blood
50	chr9:3563800-3578200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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