Variant report

Variant	esv3390567
Chromosome Location	chr9:14852461-14891880
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	chr9:14850312..14853276-chr9:14856165..14857741,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199814	chromatin interactions

Extended variants
information (count: 2116 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2116 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150016290	chr9:14852474-14852475	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552474526	chr9:14852480-14852481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2779497	chr9:14852491-14852492	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534306690	chr9:14852506-14852507	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368723499	chr9:14852507-14852508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180800061	chr9:14852523-14852524	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145231413	chr9:14852559-14852560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554183010	chr9:14852563-14852564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7044206	chr9:14852585-14852586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554430960	chr9:14852597-14852598	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187597886	chr9:14852600-14852601	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190309808	chr9:14852613-14852614	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543302766	chr9:14852623-14852624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565185366	chr9:14852664-14852665	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539855741	chr9:14852674-14852675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541434368	chr9:14852675-14852676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149089258	chr9:14852683-14852684	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574654630	chr9:14852693-14852694	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376289129	chr9:14852701-14852702	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145912081	chr9:14852733-14852734	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556176530	chr9:14852735-14852736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548679905	chr9:14852748-14852749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563704385	chr9:14852751-14852752	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182073784	chr9:14852754-14852755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186608380	chr9:14852755-14852756	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552413051	chr9:14852765-14852766	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190288297	chr9:14852769-14852770	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377638006	chr9:14852779-14852780	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535034341	chr9:14852810-14852811	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546968401	chr9:14852816-14852817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147851625	chr9:14852829-14852830	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80000410	chr9:14852845-14852846	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141491760	chr9:14852859-14852860	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554650566	chr9:14852861-14852862	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576112313	chr9:14852871-14852872	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147008263	chr9:14852874-14852875	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558836604	chr9:14852882-14852883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577187138	chr9:14852897-14852898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541371103	chr9:14852918-14852919	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147991078	chr9:14852933-14852934	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182511820	chr9:14852934-14852935	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572245478	chr9:14852982-14852983	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563814723	chr9:14852999-14853000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530950954	chr9:14853031-14853032	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113568536	chr9:14853039-14853040	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564370128	chr9:14853062-14853063	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372241140	chr9:14853079-14853080	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546908945	chr9:14853085-14853086	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185693600	chr9:14853090-14853091	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529698659	chr9:14853112-14853113	Strong transcription 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
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	19587683	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14779800-14853200	Weak transcription	Placenta	Placenta
2	chr9:14801800-14857200	Strong transcription	HepG2	liver
3	chr9:14807400-14868600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:14824000-14852800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:14833400-14860600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:14838600-14854000	Strong transcription	Fetal Kidney	kidney
7	chr9:14843400-14868800	Weak transcription	Pancreas	Pancrea
8	chr9:14844400-14853000	Strong transcription	Fetal Muscle Leg	muscle
9	chr9:14848000-14853000	Strong transcription	Adipose Nuclei	Adipose
10	chr9:14848400-14852600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr9:14849600-14869000	Weak transcription	Small Intestine	intestine
12	chr9:14850200-14853200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:14850200-14857000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:14850200-14859000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:14850200-14869000	Weak transcription	Fetal Brain Male	brain
16	chr9:14850600-14852600	Strong transcription	Fetal Lung	lung
17	chr9:14850600-14852800	Strong transcription	Fetal Stomach	stomach
18	chr9:14850800-14853200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:14850800-14853200	Strong transcription	Fetal Intestine Large	intestine
20	chr9:14851600-14863800	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:14851800-14857000	Weak transcription	Aorta	Aorta
22	chr9:14852200-14857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:14852400-14853400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:14852600-14853000	Weak transcription	Fetal Lung	lung
25	chr9:14852600-14858600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:14852800-14857000	Weak transcription	Fetal Stomach	stomach
27	chr9:14853000-14853400	Enhancers	Fetal Lung	lung
28	chr9:14853000-14857000	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:14853000-14857200	Weak transcription	Adipose Nuclei	Adipose
30	chr9:14853200-14853400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr9:14853200-14857200	Weak transcription	Fetal Intestine Large	intestine
32	chr9:14853200-14868800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:14853400-14853800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr9:14853400-14857000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:14853400-14857000	Weak transcription	Fetal Lung	lung
36	chr9:14853800-14857200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr9:14854000-14856800	Weak transcription	Fetal Kidney	kidney
38	chr9:14856800-14859800	Strong transcription	Fetal Kidney	kidney
39	chr9:14857000-14857800	Strong transcription	Fetal Muscle Leg	muscle
40	chr9:14857000-14857800	Strong transcription	Fetal Stomach	stomach
41	chr9:14857000-14858000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:14857000-14858400	Strong transcription	Aorta	Aorta
43	chr9:14857000-14859600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:14857000-14860200	Strong transcription	Fetal Lung	lung
45	chr9:14857200-14857400	Genic enhancers	HepG2	liver
46	chr9:14857200-14858200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:14857200-14859400	Strong transcription	Adipose Nuclei	Adipose
48	chr9:14857200-14859400	Strong transcription	Fetal Intestine Large	intestine
49	chr9:14857200-14860000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr9:14857400-14857800	Strong transcription	HepG2	liver

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