Variant report

Variant	esv2762797
Chromosome Location	chr9:15282415-15297028
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:15281310..15283636-chr9:15305576..15307784,3	MCF-7	breast:
2	chr9:15273274..15274780-chr9:15289457..15291065,2	K562	blood:
3	chr9:15285882..15288246-chr9:15510557..15512091,2	K562	blood:
4	chr9:15290133..15292362-chr9:15306023..15308672,3	MCF-7	breast:
5	chr9:15283111..15284924-chr9:15291453..15293765,2	MCF-7	breast:
6	chr9:15283111..15284924-chr9:15291453..15293765,2	MCF-7	breast:
7	chr9:15285917..15290029-chr9:15305142..15308889,4	MCF-7	breast:
8	chr9:15281113..15283116-chr9:15421375..15424271,2	MCF-7	breast:
9	chr9:15293831..15297894-chr9:15305171..15308300,4	MCF-7	breast:
10	chr9:15283042..15284645-chr9:15287369..15289731,2	K562	blood:
11	chr9:15218010..15219971-chr9:15288500..15290967,2	MCF-7	breast:
12	chr9:15276823..15279769-chr9:15280291..15283089,2	MCF-7	breast:
13	chr9:15283042..15284645-chr9:15287369..15289731,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164975	chromatin interactions
ENSG00000155158	chromatin interactions
ENSG00000164985	chromatin interactions

Extended variants
information (count: 706 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961954	chr9:15282415-15282416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs561792522	chr9:15282427-15282428	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529240121	chr9:15282476-15282477	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570656	chr9:15282477-15282478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562818397	chr9:15282510-15282511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533435502	chr9:15282550-15282551	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551696808	chr9:15282569-15282570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567011190	chr9:15282629-15282630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527990823	chr9:15282658-15282659	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs141124469	chr9:15282670-15282671	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs538806573	chr9:15282674-15282675	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568105296	chr9:15282705-15282706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs188027652	chr9:15282706-15282707	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557122439	chr9:15282716-15282717	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568882033	chr9:15282756-15282757	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144918174	chr9:15282764-15282765	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372640172	chr9:15282782-15282783	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147879204	chr9:15282791-15282792	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191243801	chr9:15282805-15282806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558518375	chr9:15282821-15282822	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540176017	chr9:15282833-15282834	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7037559	chr9:15282851-15282852	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs557908676	chr9:15282854-15282855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73646027	chr9:15282913-15282914	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573724560	chr9:15282954-15282955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141496298	chr9:15282956-15282957	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562864921	chr9:15282959-15282960	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533273857	chr9:15282961-15282962	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs545434658	chr9:15282974-15282975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs73646028	chr9:15283000-15283001	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113505507	chr9:15283016-15283017	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527881811	chr9:15283025-15283026	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549735073	chr9:15283031-15283032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs145277193	chr9:15283034-15283035	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149158733	chr9:15283041-15283042	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs182662674	chr9:15283051-15283052	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs568795600	chr9:15283064-15283065	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs12003180	chr9:15283097-15283098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
39	rs557825226	chr9:15283183-15283184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113587099	chr9:15283185-15283186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143157062	chr9:15283206-15283207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562487595	chr9:15283225-15283226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555114341	chr9:15283227-15283228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573611898	chr9:15283260-15283261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376698546	chr9:15283307-15283308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544059439	chr9:15283361-15283362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556284565	chr9:15283407-15283408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562177	chr9:15283433-15283434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148244005	chr9:15283442-15283443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs638485	chr9:15283446-15283447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Ovarian cancer	19835627	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15241200-15286200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:15243000-15293400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr9:15250200-15288200	Weak transcription	Fetal Stomach	stomach
4	chr9:15253800-15286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:15254000-15293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:15254200-15293000	Weak transcription	NHEK	skin
7	chr9:15254200-15295600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:15259200-15293400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:15260600-15283000	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:15263800-15283000	Weak transcription	Aorta	Aorta
11	chr9:15264200-15285800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:15273600-15286000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr9:15273600-15293400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr9:15273800-15282800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr9:15274000-15286000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr9:15274000-15288400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:15274000-15288400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:15276800-15284800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:15277000-15292200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:15277000-15293000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:15277600-15288400	Weak transcription	Lung	lung
22	chr9:15277600-15296800	Weak transcription	Gastric	stomach
23	chr9:15278000-15286000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:15278000-15286200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:15278000-15295200	Weak transcription	Pancreas	Pancrea
26	chr9:15278200-15282800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr9:15278200-15283000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:15278200-15289400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:15278600-15282600	Weak transcription	Stomach Mucosa	stomach
30	chr9:15278600-15286200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr9:15278600-15291200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:15279600-15282600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:15279600-15282800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr9:15279600-15287400	Weak transcription	Small Intestine	intestine
35	chr9:15279800-15282800	Weak transcription	Primary T cells from cord blood	blood
36	chr9:15279800-15282800	Weak transcription	Fetal Intestine Large	intestine
37	chr9:15279800-15293200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:15280800-15288600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr9:15281000-15282600	Weak transcription	Fetal Intestine Small	intestine
40	chr9:15281000-15283400	Enhancers	HepG2	liver
41	chr9:15281400-15282600	Weak transcription	Liver	Liver
42	chr9:15281400-15283600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr9:15281600-15289000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr9:15282400-15285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:15282600-15282800	Enhancers	Liver	Liver
46	chr9:15282600-15283600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr9:15282600-15283600	Enhancers	Stomach Mucosa	stomach
48	chr9:15282600-15284200	Enhancers	Fetal Intestine Small	intestine
49	chr9:15282800-15283200	Enhancers	Fetal Intestine Large	intestine
50	chr9:15282800-15283600	Enhancers	Primary T helper cells PMA-I stimulated	--

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