Variant report

Variant	esv2762783
Chromosome Location	chr9:3561910-3618770
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	chr9:3561040..3563255-chr9:3569242..3571583,2	K562	blood:
2	chr9:3531967..3534867-chr9:3591369..3594064,2	K562	blood:
3	chr9:3561040..3563255-chr9:3569242..3571583,2	K562	blood:
4	chr9:3605941..3608408-chr9:3657516..3659534,2	K562	blood:
5	chr9:3594034..3597239-chr9:3602535..3604961,3	K562	blood:
6	chr9:3566363..3569263-chr9:3574839..3576405,2	MCF-7	breast:
7	chr9:3594034..3597239-chr9:3602535..3604961,3	K562	blood:
8	chr9:3532661..3534867-chr9:3592564..3594236,2	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	chr9:3568794-3568889	ENSG00000232104.2
2	lnc-KCNV2-3	chr9:3606693-3606738	ENSG00000232104.2
3	lnc-KCNV2-3	chr9:3606693-3606738	ENSG00000232104
4	lnc-KCNV2-3	chr9:3568794-3568890	ENSG00000232104
5	lnc-KCNV2-3	chr9:3602523-3602584	ENSG00000232104.2
6	lnc-KCNV2-3	chr9:3602535-3602584	ENSG00000232104

No data

Extended variants
information (count: 2080 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2080 , 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	rs539840319	chr9:3561914-3561915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553744062	chr9:3561916-3561917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111573480	chr9:3561927-3561928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542513588	chr9:3561930-3561931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144461512	chr9:3561962-3561963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10814250	chr9:3561973-3561974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10814251	chr9:3562001-3562002	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564203333	chr9:3562030-3562031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532802200	chr9:3562032-3562033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534460772	chr9:3562034-3562035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200679033	chr9:3562041-3562042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148164889	chr9:3562050-3562051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560046258	chr9:3562051-3562052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142034641	chr9:3562058-3562059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs118083659	chr9:3562065-3562066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568968819	chr9:3562069-3562070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531487552	chr9:3562091-3562092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201549695	chr9:3562111-3562112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550842881	chr9:3562131-3562132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571529829	chr9:3562140-3562141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190447804	chr9:3562153-3562154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539876964	chr9:3562162-3562163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182272260	chr9:3562188-3562189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147327362	chr9:3562194-3562195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185962395	chr9:3562210-3562211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555978688	chr9:3562236-3562237	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575791912	chr9:3562284-3562285	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544781509	chr9:3562297-3562298	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554181274	chr9:3562336-3562337	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557165978	chr9:3562374-3562375	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557461699	chr9:3562389-3562390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577295317	chr9:3562398-3562399	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539915072	chr9:3562415-3562416	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188449142	chr9:3562448-3562449	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180873864	chr9:3562494-3562495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577132652	chr9:3562503-3562504	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562799558	chr9:3562505-3562506	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531448167	chr9:3562567-3562568	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114012050	chr9:3562569-3562570	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571438912	chr9:3562625-3562626	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112288691	chr9:3562634-3562635	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115024582	chr9:3562680-3562681	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562617266	chr9:3562686-3562687	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535835817	chr9:3562690-3562691	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555823581	chr9:3562693-3562694	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569516975	chr9:3562703-3562704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557954082	chr9:3562704-3562705	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577782739	chr9:3562728-3562729	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576160321	chr9:3562871-3562872	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185813818	chr9:3562874-3562875	Weak transcription Enhancers Strong transcription	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3527400-3567600	Weak transcription	Ovary	ovary
2	chr9:3529000-3579000	Weak transcription	HSMMtube	muscle
3	chr9:3531000-3575800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:3531200-3564600	Weak transcription	HSMM	muscle
5	chr9:3531800-3579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:3546600-3563600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr9:3547600-3572800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:3547800-3562800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:3549400-3570200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:3549800-3562600	Weak transcription	Lung	lung
11	chr9:3549800-3572800	Weak transcription	Right Ventricle	heart
12	chr9:3550000-3566000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:3550000-3593000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr9:3551000-3571200	Weak transcription	Thymus	Thymus
15	chr9:3551400-3563000	Weak transcription	Primary B cells from cord blood	blood
16	chr9:3552400-3563000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr9:3552600-3563200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr9:3554400-3564000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:3554400-3576000	Weak transcription	Adipose Nuclei	Adipose
20	chr9:3554400-3576400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:3554400-3579400	Weak transcription	Left Ventricle	heart
22	chr9:3554600-3569400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:3554800-3578000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:3557000-3562800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:3559400-3563400	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:3560800-3571000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr9:3560800-3571400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:3561400-3562000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:3562000-3565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:3562200-3563000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:3562600-3563200	Strong transcription	Lung	lung
32	chr9:3562800-3563600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:3562800-3563800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:3562800-3568000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:3563000-3563800	Strong transcription	Primary B cells from cord blood	blood
36	chr9:3563000-3563800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr9:3563200-3563800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr9:3563200-3565400	Weak transcription	Lung	lung
39	chr9:3563600-3566000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:3563800-3566000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr9:3563800-3567200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr9:3563800-3576200	Weak transcription	Primary B cells from cord blood	blood
43	chr9:3563800-3578200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:3565200-3568400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:3567600-3568000	Enhancers	Fetal Heart	heart
46	chr9:3567600-3568800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr9:3568400-3569800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:3568800-3571600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr9:3569400-3570400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr9:3569600-3570400	Enhancers	Psoas Muscle	Psoas

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