Variant report

Variant	esv3396969
Chromosome Location	chr9:16657572-16658284
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	chr9:16653386..16655989-chr9:16657272..16659036,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186759812	chr9:16657606-16657607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575476022	chr9:16657636-16657637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150432437	chr9:16657647-16657648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564353924	chr9:16657650-16657651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528141896	chr9:16657657-16657658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs118066471	chr9:16657686-16657687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77760031	chr9:16657720-16657721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111373803	chr9:16657728-16657729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528984632	chr9:16657738-16657739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550373628	chr9:16657773-16657774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569120732	chr9:16657782-16657783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533333391	chr9:16657789-16657790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10756773	chr9:16657796-16657797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566819657	chr9:16657855-16657856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533977999	chr9:16657860-16657861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191207149	chr9:16657866-16657867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567525834	chr9:16657897-16657898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10810583	chr9:16657947-16657948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138118322	chr9:16657969-16657970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181115370	chr9:16657972-16657973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546019933	chr9:16657990-16657991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558127322	chr9:16657997-16657998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573103869	chr9:16658011-16658012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76834189	chr9:16658025-16658026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79802950	chr9:16658028-16658029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528847408	chr9:16658068-16658069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377598414	chr9:16658072-16658073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562221813	chr9:16658080-16658081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533393520	chr9:16658094-16658095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551549850	chr9:16658102-16658103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73421454	chr9:16658111-16658112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528010882	chr9:16658139-16658140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201336597	chr9:16658168-16658169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549377992	chr9:16658170-16658171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10756774	chr9:16658174-16658175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537832473	chr9:16658222-16658223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185127015	chr9:16658239-16658240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189595312	chr9:16658251-16658252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199901676	chr9:16658276-16658277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201068923	chr9:16658278-16658279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368161943	chr9:16658279-16658280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398073454	chr9:16658282-16658283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202127956	chr9:16658283-16658284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16640000-16670800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16646600-16661000	Weak transcription	HSMM	muscle
3	chr9:16650800-16657600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:16654200-16660400	Weak transcription	Esophagus	oesophagus
5	chr9:16654400-16657600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:16654400-16669200	Weak transcription	NHLF	lung
7	chr9:16654600-16657600	Enhancers	Colon Smooth Muscle	Colon
8	chr9:16654600-16657600	Enhancers	Osteobl	bone
9	chr9:16654800-16658200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:16655000-16658800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:16655000-16666600	Weak transcription	Fetal Stomach	stomach
12	chr9:16655600-16657800	Enhancers	Stomach Smooth Muscle	stomach
13	chr9:16655600-16661400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:16655800-16657600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:16655800-16657600	Enhancers	Adipose Nuclei	Adipose
16	chr9:16655800-16657600	Enhancers	Ovary	ovary
17	chr9:16655800-16657600	Enhancers	Psoas Muscle	Psoas
18	chr9:16656000-16657600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:16656000-16657600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:16656200-16658800	Weak transcription	Fetal Lung	lung
21	chr9:16656400-16658600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:16656400-16660200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:16656400-16660800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:16656400-16661200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:16656600-16657600	Enhancers	Rectal Smooth Muscle	rectum
26	chr9:16656600-16670800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:16656800-16658200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr9:16656800-16658400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:16657200-16659200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:16657400-16657600	Enhancers	NH-A	brain
31	chr9:16657600-16658000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:16657600-16658200	Weak transcription	Ovary	ovary
33	chr9:16657600-16659000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:16657600-16664000	Weak transcription	Colon Smooth Muscle	Colon
35	chr9:16657600-16664000	Weak transcription	Osteobl	bone
36	chr9:16657600-16670800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:16657600-16670800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:16657600-16671000	Weak transcription	NH-A	brain
39	chr9:16657600-16681400	Weak transcription	Psoas Muscle	Psoas
40	chr9:16658000-16659000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:16658200-16658400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr9:16658200-16658800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:16658200-16659400	Enhancers	Ovary	ovary

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