Variant report

Variant	esv3375956
Chromosome Location	chr9:14663001-14681323
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14678774..14681640-chr9:14758881..14761517,2	MCF-7	breast:
2	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:
3	chr9:14677358..14679032-chr9:14729314..14731148,2	MCF-7	breast:
4	chr9:14671286..14673264-chr9:14676237..14678702,2	K562	blood:
5	chr9:14673551..14675387-chr9:14691158..14693433,2	MCF-7	breast:
6	chr9:14676498..14678344-chr9:14692478..14694843,2	MCF-7	breast:
7	chr10:61799790..61802033-chr9:14680041..14681542,2	MCF-7	breast:
8	chr9:14671286..14673264-chr9:14676237..14678702,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CER1-1	chr9:14677364-14677470	NONHSAT130254
2	lnc-CER1-1	chr9:14680031-14680160	NONHSAT130254

No data

Variant related genes	Relation type
ENSG00000175893	chromatin interactions

Extended variants
information (count: 819 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554654311	chr9:14663038-14663039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62535368	chr9:14663040-14663041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529268829	chr9:14663046-14663047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541510765	chr9:14663051-14663052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187804388	chr9:14663058-14663059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528281065	chr9:14663075-14663076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551541991	chr9:14663089-14663090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79204269	chr9:14663097-14663098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572194637	chr9:14663114-14663115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74606971	chr9:14663133-14663134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192482243	chr9:14663134-14663135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564306129	chr9:14663146-14663147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539299900	chr9:14663149-14663150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185671344	chr9:14663155-14663156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535801520	chr9:14663157-14663158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147989918	chr9:14663163-14663164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572690380	chr9:14663215-14663216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534953202	chr9:14663272-14663273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558310740	chr9:14663290-14663291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117957217	chr9:14663316-14663317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80178594	chr9:14663327-14663328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189139776	chr9:14663336-14663337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574085536	chr9:14663381-14663382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386732927	chr9:14663393-14663394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7867569	chr9:14663394-14663395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142052601	chr9:14663397-14663398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551312794	chr9:14663407-14663408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375375169	chr9:14663413-14663414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564755627	chr9:14663441-14663442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530592770	chr9:14663454-14663455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568763121	chr9:14663467-14663468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181906671	chr9:14663474-14663475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78768668	chr9:14663491-14663492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35050957	chr9:14663492-14663493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546274387	chr9:14663529-14663530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566984231	chr9:14663537-14663538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10124026	chr9:14663550-14663551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546571930	chr9:14663592-14663593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145906341	chr9:14663602-14663603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184223331	chr9:14663608-14663609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368263744	chr9:14663629-14663630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572105077	chr9:14663636-14663637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558132536	chr9:14663641-14663642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138726750	chr9:14663682-14663683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537595100	chr9:14663713-14663714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557499894	chr9:14663715-14663716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574170661	chr9:14663753-14663754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10961641	chr9:14663786-14663787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372839270	chr9:14663791-14663792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375644620	chr9:14663813-14663814	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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
Chordoma	21215367	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
2	chr9:14634400-14686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:14634600-14692400	Weak transcription	Gastric	stomach
4	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
5	chr9:14648200-14663800	Weak transcription	Placenta	Placenta
6	chr9:14652000-14687000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:14653800-14687200	Weak transcription	Left Ventricle	heart
8	chr9:14654000-14663200	Weak transcription	Osteobl	bone
9	chr9:14654200-14686200	Weak transcription	Fetal Brain Male	brain
10	chr9:14654200-14692600	Weak transcription	Pancreas	Pancrea
11	chr9:14655000-14686800	Weak transcription	Psoas Muscle	Psoas
12	chr9:14655200-14679000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:14655200-14690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr9:14655400-14670000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:14655400-14670600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:14655400-14671000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:14655400-14681400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:14655400-14681600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr9:14655400-14689200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:14655400-14690600	Weak transcription	Brain Angular Gyrus	brain
21	chr9:14655400-14690600	Weak transcription	Fetal Kidney	kidney
22	chr9:14655400-14691000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr9:14655400-14691400	Weak transcription	A549	lung
24	chr9:14655400-14692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:14655600-14670000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:14655600-14671400	Weak transcription	HSMM	muscle
27	chr9:14655600-14680800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr9:14655600-14686200	Weak transcription	Brain Anterior Caudate	brain
29	chr9:14655600-14686600	Weak transcription	NHDF-Ad	bronchial
30	chr9:14655600-14688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:14655600-14692200	Weak transcription	Fetal Lung	lung
32	chr9:14655800-14663800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr9:14655800-14686200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr9:14655800-14686200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:14655800-14686800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr9:14655800-14686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:14655800-14687200	Weak transcription	Adipose Nuclei	Adipose
38	chr9:14655800-14692200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:14656000-14692400	Weak transcription	Colonic Mucosa	Colon
40	chr9:14656200-14692400	Weak transcription	Primary T cells from cord blood	blood
41	chr9:14656400-14671000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:14656400-14672400	Weak transcription	Fetal Intestine Large	intestine
43	chr9:14656600-14670600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:14656800-14663800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:14657000-14692600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:14657200-14686600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr9:14657400-14686400	Weak transcription	Fetal Intestine Small	intestine
48	chr9:14658200-14670000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:14658200-14670000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:14658200-14670800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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