Variant report

Variant	nsv892618
Chromosome Location	chr9:14811971-14844777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14813259..14815238-chr9:14818255..14820615,2	K562	blood:
2	chr9:14843588..14845441-chr9:14847451..14849631,2	K562	blood:
3	chr9:14813259..14815238-chr9:14818255..14820615,2	K562	blood:
4	chr9:14842932..14845441-chr9:14846633..14848951,2	K562	blood:

Extended variants
information (count: 1626 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1626 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12000514	chr9:14811971-14811972	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78072032	chr9:14812004-14812005	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531397598	chr9:14812025-14812026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183075912	chr9:14812029-14812030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187755489	chr9:14812060-14812061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532295757	chr9:14812076-14812077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147791583	chr9:14812086-14812087	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548444507	chr9:14812109-14812110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142557699	chr9:14812129-14812130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199958976	chr9:14812134-14812135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548392270	chr9:14812163-14812164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570164564	chr9:14812177-14812178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543268157	chr9:14812187-14812188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12685911	chr9:14812232-14812233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537223607	chr9:14812239-14812240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559125097	chr9:14812264-14812265	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192271703	chr9:14812289-14812290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116120268	chr9:14812300-14812301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77552694	chr9:14812315-14812316	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572067267	chr9:14812324-14812325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542684044	chr9:14812341-14812342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372538020	chr9:14812361-14812362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79456096	chr9:14812365-14812366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183606196	chr9:14812368-14812369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188100822	chr9:14812377-14812378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75255312	chr9:14812412-14812413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146694241	chr9:14812489-14812490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559271652	chr9:14812504-14812505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530030363	chr9:14812505-14812506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78117704	chr9:14812509-14812510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7851554	chr9:14812534-14812535	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531047949	chr9:14812535-14812536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147958708	chr9:14812540-14812541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571059013	chr9:14812556-14812557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116618544	chr9:14812593-14812594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371252550	chr9:14812604-14812605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568805480	chr9:14812633-14812634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140580753	chr9:14812666-14812667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554571108	chr9:14812677-14812678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374781436	chr9:14812686-14812687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62536616	chr9:14812708-14812709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200074353	chr9:14812768-14812769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537162493	chr9:14812779-14812780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558424163	chr9:14812797-14812798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576626693	chr9:14812814-14812815	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs376847059	chr9:14812824-14812825	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs201699523	chr9:14812828-14812829	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371098943	chr9:14812832-14812833	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs199638556	chr9:14812854-14812855	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376473065	chr9:14812859-14812860	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14755800-14812400	Weak transcription	Pancreas	Pancrea
2	chr9:14779800-14853200	Weak transcription	Placenta	Placenta
3	chr9:14780400-14843200	Weak transcription	Fetal Heart	heart
4	chr9:14782000-14822000	Weak transcription	Fetal Brain Male	brain
5	chr9:14782800-14822000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr9:14786800-14814400	Strong transcription	Fetal Lung	lung
7	chr9:14793000-14822600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:14799400-14812200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:14801800-14812600	Weak transcription	Fetal Stomach	stomach
10	chr9:14801800-14857200	Strong transcription	HepG2	liver
11	chr9:14803600-14818000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:14806600-14813400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:14806800-14814000	Strong transcription	Adipose Nuclei	Adipose
14	chr9:14807200-14822800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:14807400-14868600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:14807800-14813400	Weak transcription	Right Ventricle	heart
17	chr9:14809200-14847600	Weak transcription	Fetal Intestine Small	intestine
18	chr9:14809800-14813200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr9:14810000-14813800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:14810000-14814000	Strong transcription	Fetal Kidney	kidney
21	chr9:14810200-14812000	Weak transcription	Fetal Intestine Large	intestine
22	chr9:14810200-14813400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr9:14810200-14831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:14810400-14849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:14810600-14812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:14810800-14813800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:14811200-14813000	Strong transcription	Fetal Muscle Leg	muscle
28	chr9:14811200-14814800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:14811800-14813000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:14811800-14813000	Strong transcription	Aorta	Aorta
31	chr9:14811800-14815200	Strong transcription	Colon Smooth Muscle	Colon
32	chr9:14812000-14812800	Enhancers	NH-A	brain
33	chr9:14812000-14813000	Strong transcription	Fetal Intestine Large	intestine
34	chr9:14812000-14814200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:14812200-14813000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr9:14812400-14813200	Strong transcription	Pancreas	Pancrea
37	chr9:14812600-14813200	Strong transcription	Fetal Stomach	stomach
38	chr9:14812600-14813600	Enhancers	HSMM	muscle
39	chr9:14812800-14813200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:14812800-14813400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:14812800-14813400	Enhancers	HSMMtube	muscle
42	chr9:14812800-14813400	Enhancers	NHDF-Ad	bronchial
43	chr9:14812800-14813400	Enhancers	Osteobl	bone
44	chr9:14812800-14813600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:14812800-14814000	Flanking Active TSS	NH-A	brain
46	chr9:14812800-14814200	Enhancers	Dnd41	blood
47	chr9:14813000-14813200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:14813000-14814000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:14813000-14814000	Enhancers	NHLF	lung
50	chr9:14813000-14814600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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