Variant report

Variant	nsv613139
Chromosome Location	chr9:2689244-2710537
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2697672..2699456-chr9:2700934..2702755,2	MCF-7	breast:
2	chr9:2695521..2698232-chr9:3222806..3225730,2	K562	blood:
3	chr9:2682099..2684421-chr9:2688632..2690767,2	MCF-7	breast:
4	chr9:2708882..2710546-chr9:2712571..2714429,2	K562	blood:
5	chr9:2697672..2699456-chr9:2700934..2702755,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-4	chr9:2697878-2698075	NONHSAT130005
2	lnc-KIAA0020-4	chr9:2704045-2704737	NONHSAT130005
3	lnc-KIAA0020-4	chr9:2700367-2700587	NONHSAT130005

No data

Extended variants
information (count: 1215 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1215 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10125245	chr9:2689244-2689245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576944335	chr9:2689245-2689246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117176820	chr9:2689257-2689258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553774893	chr9:2689276-2689277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73384891	chr9:2689287-2689288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7047154	chr9:2689301-2689302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs71329444	chr9:2689304-2689305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80284694	chr9:2689305-2689306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187364176	chr9:2689395-2689396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141307171	chr9:2689396-2689397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574902285	chr9:2689410-2689411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543537276	chr9:2689426-2689427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538242089	chr9:2689427-2689428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532597331	chr9:2689450-2689451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552779873	chr9:2689456-2689457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559533071	chr9:2689504-2689505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528715308	chr9:2689529-2689530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548492050	chr9:2689533-2689534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548353245	chr9:2689557-2689558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192346708	chr9:2689582-2689583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184851969	chr9:2689584-2689585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36035986	chr9:2689599-2689600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550379686	chr9:2689611-2689612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189451509	chr9:2689638-2689639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180990173	chr9:2689652-2689653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28473277	chr9:2689657-2689658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs200320918	chr9:2689682-2689683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573076356	chr9:2689719-2689720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146278858	chr9:2689723-2689724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573783793	chr9:2689745-2689746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184828264	chr9:2689754-2689755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543848467	chr9:2689761-2689762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563622966	chr9:2689769-2689770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189438350	chr9:2689781-2689782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74725089	chr9:2689791-2689792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559490383	chr9:2689802-2689803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528674581	chr9:2689813-2689814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548455518	chr9:2689824-2689825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562070365	chr9:2689829-2689830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530420594	chr9:2689854-2689855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79124203	chr9:2689886-2689887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77197151	chr9:2689894-2689895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570361642	chr9:2689947-2689948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139436757	chr9:2689967-2689968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546733832	chr9:2689981-2689982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10217734	chr9:2690005-2690006	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs118005551	chr9:2690028-2690029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79737948	chr9:2690038-2690039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569176193	chr9:2690042-2690043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537763011	chr9:2690043-2690044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Ovarian cancer	22355333	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2679400-2692400	Weak transcription	Psoas Muscle	Psoas
2	chr9:2687000-2689600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:2687200-2690400	Weak transcription	Right Atrium	heart
4	chr9:2687200-2693200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:2687400-2690600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:2688200-2691400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:2688600-2690400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:2688600-2702400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:2688800-2689600	Enhancers	Ovary	ovary
10	chr9:2689000-2689600	Enhancers	Left Ventricle	heart
11	chr9:2689200-2692200	Enhancers	Fetal Heart	heart
12	chr9:2689600-2690000	Weak transcription	Left Ventricle	heart
13	chr9:2689600-2691800	Weak transcription	Ovary	ovary
14	chr9:2689800-2700200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:2690000-2690200	Enhancers	Right Ventricle	heart
16	chr9:2690000-2691200	Enhancers	Left Ventricle	heart
17	chr9:2690000-2692600	Enhancers	HUVEC	blood vessel
18	chr9:2690000-2702600	Weak transcription	Primary T cells from cord blood	blood
19	chr9:2690200-2690400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:2690200-2690600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:2690400-2690800	Enhancers	Right Atrium	heart
22	chr9:2690400-2691000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr9:2690400-2691200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:2690600-2690800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:2690600-2690800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:2690600-2718000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:2690800-2691200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:2690800-2700600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:2691000-2691600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:2691200-2691400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:2691200-2692200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:2691200-2692200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr9:2691200-2710600	Weak transcription	Left Ventricle	heart
34	chr9:2691400-2692000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:2691400-2692200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:2691400-2692600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:2691600-2692200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:2692000-2709600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:2692200-2693200	Weak transcription	Fetal Heart	heart
40	chr9:2693200-2694000	Enhancers	Fetal Heart	heart
41	chr9:2696600-2700600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr9:2697200-2698600	Enhancers	GM12878-XiMat	blood
43	chr9:2697200-2722800	Weak transcription	HSMM	muscle
44	chr9:2697600-2698200	Enhancers	Adipose Nuclei	Adipose
45	chr9:2697800-2698000	Enhancers	Esophagus	oesophagus
46	chr9:2697800-2698200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:2698000-2717600	Weak transcription	Esophagus	oesophagus
48	chr9:2698200-2700400	Weak transcription	Adipose Nuclei	Adipose
49	chr9:2699000-2702200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr9:2699200-2701400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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