Variant report

Variant	esv3435234
Chromosome Location	chr9:14680711-14681264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14678774..14681640-chr9:14758881..14761517,2	MCF-7	breast:
2	chr10:61799790..61802033-chr9:14680041..14681542,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10114225	chr9:14680724-14680725	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76471396	chr9:14680727-14680728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369308565	chr9:14680757-14680758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571055611	chr9:14680762-14680763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540053816	chr9:14680794-14680795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190891669	chr9:14680828-14680829	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570229413	chr9:14680833-14680834	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535956190	chr9:14680860-14680861	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78795402	chr9:14680867-14680868	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139016783	chr9:14680870-14680871	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148918143	chr9:14680874-14680875	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183464867	chr9:14680909-14680910	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541572531	chr9:14680944-14680945	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577841934	chr9:14680946-14680947	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543665038	chr9:14680957-14680958	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559696210	chr9:14680966-14680967	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533649618	chr9:14680967-14680968	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563162171	chr9:14680985-14680986	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545731999	chr9:14680989-14680990	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376193393	chr9:14681011-14681012	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573457867	chr9:14681035-14681036	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76676756	chr9:14681068-14681069	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563258844	chr9:14681072-14681073	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370175432	chr9:14681074-14681075	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186012841	chr9:14681075-14681076	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538908395	chr9:14681117-14681118	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143663837	chr9:14681126-14681127	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558607111	chr9:14681132-14681133	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551069532	chr9:14681133-14681134	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190778732	chr9:14681144-14681145	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533473118	chr9:14681146-14681147	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550450543	chr9:14681155-14681156	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374828495	chr9:14681172-14681173	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570272362	chr9:14681198-14681199	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182961481	chr9:14681209-14681210	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369481121	chr9:14681231-14681232	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536046622	chr9:14681253-14681254	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549543887	chr9:14681260-14681261	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Chordoma	21215367	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

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	chr9:14652000-14687000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr9:14653800-14687200	Weak transcription	Left Ventricle	heart
7	chr9:14654200-14686200	Weak transcription	Fetal Brain Male	brain
8	chr9:14654200-14692600	Weak transcription	Pancreas	Pancrea
9	chr9:14655000-14686800	Weak transcription	Psoas Muscle	Psoas
10	chr9:14655200-14690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:14655400-14681400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:14655400-14681600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr9:14655400-14689200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:14655400-14690600	Weak transcription	Brain Angular Gyrus	brain
15	chr9:14655400-14690600	Weak transcription	Fetal Kidney	kidney
16	chr9:14655400-14691000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:14655400-14691400	Weak transcription	A549	lung
18	chr9:14655400-14692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr9:14655600-14680800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr9:14655600-14686200	Weak transcription	Brain Anterior Caudate	brain
21	chr9:14655600-14686600	Weak transcription	NHDF-Ad	bronchial
22	chr9:14655600-14688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:14655600-14692200	Weak transcription	Fetal Lung	lung
24	chr9:14655800-14686200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr9:14655800-14686200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:14655800-14686800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr9:14655800-14686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:14655800-14687200	Weak transcription	Adipose Nuclei	Adipose
29	chr9:14655800-14692200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:14656000-14692400	Weak transcription	Colonic Mucosa	Colon
31	chr9:14656200-14692400	Weak transcription	Primary T cells from cord blood	blood
32	chr9:14657000-14692600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:14657200-14686600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr9:14657400-14686400	Weak transcription	Fetal Intestine Small	intestine
35	chr9:14658400-14685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:14658600-14680800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:14658600-14688800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:14659000-14686200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:14659200-14686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:14659600-14685800	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:14659600-14692400	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:14660000-14681400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr9:14660000-14686600	Weak transcription	Fetal Stomach	stomach
44	chr9:14660200-14691000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr9:14663000-14686200	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:14663200-14689400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr9:14663400-14686600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:14663400-14692000	Weak transcription	Brain Substantia Nigra	brain
49	chr9:14668600-14689400	Weak transcription	Fetal Thymus	thymus
50	chr9:14669200-14686600	Weak transcription	NH-A	brain

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