Variant report

Variant	esv3506691
Chromosome Location	chr9:15387098-15389542
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	chr9:15385459..15387196-chr9:15436159..15438276,2	K562	blood:
2	chr9:15386697..15389614-chr9:15422790..15424352,2	K562	blood:

Variant related genes	Relation type
ENSG00000164975	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140114980	chr9:15387113-15387114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142392209	chr9:15387128-15387129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374131725	chr9:15387135-15387136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552048110	chr9:15387142-15387143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2382525	chr9:15387144-15387145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527856687	chr9:15387150-15387151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549434894	chr9:15387156-15387157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567928131	chr9:15387192-15387193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372032293	chr9:15387196-15387197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550542266	chr9:15387206-15387207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568658974	chr9:15387215-15387216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539150438	chr9:15387239-15387240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566000707	chr9:15387257-15387258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11794165	chr9:15387303-15387304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139404057	chr9:15387316-15387317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192707579	chr9:15387322-15387323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149995241	chr9:15387362-15387363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75381023	chr9:15387368-15387369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183923053	chr9:15387381-15387382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573862506	chr9:15387423-15387424	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188872185	chr9:15387434-15387435	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs556591741	chr9:15387494-15387495	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs578034889	chr9:15387505-15387506	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545536102	chr9:15387547-15387548	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147654743	chr9:15387598-15387599	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375198822	chr9:15387659-15387660	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4486300	chr9:15387683-15387684	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527918476	chr9:15387696-15387697	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12005366	chr9:15387709-15387710	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561466550	chr9:15387711-15387712	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74696146	chr9:15387742-15387743	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375733141	chr9:15387749-15387750	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550161463	chr9:15387758-15387759	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568520918	chr9:15387808-15387809	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142452339	chr9:15387844-15387845	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542710365	chr9:15387845-15387846	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566208144	chr9:15387851-15387852	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12001476	chr9:15387874-15387875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs192948216	chr9:15387942-15387943	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567493844	chr9:15387943-15387944	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538142958	chr9:15387945-15387946	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10962015	chr9:15387949-15387950	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12001490	chr9:15387961-15387962	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553620107	chr9:15387969-15387970	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs113267999	chr9:15388001-15388002	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556651462	chr9:15388016-15388017	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185150614	chr9:15388034-15388035	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189016589	chr9:15388036-15388037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7046809	chr9:15388052-15388053	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs369519548	chr9:15388082-15388083	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15387000-15389200	Weak transcription	K562	blood
2	chr9:15387400-15388000	Enhancers	Fetal Intestine Small	intestine
3	chr9:15387400-15393800	Enhancers	Fetal Intestine Large	intestine
4	chr9:15388000-15388400	Weak transcription	Fetal Intestine Small	intestine
5	chr9:15388400-15394200	Enhancers	Fetal Intestine Small	intestine
6	chr9:15389000-15389600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:15389000-15389800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:15389000-15389800	Enhancers	Colonic Mucosa	Colon
9	chr9:15389000-15389800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr9:15389200-15389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:15389200-15389800	Enhancers	K562	blood
12	chr9:15389200-15390800	Enhancers	Fetal Kidney	kidney
13	chr9:15389200-15391000	Enhancers	Duodenum Mucosa	Duodenum
14	chr9:15389400-15391400	Enhancers	Rectal Mucosa Donor 31	rectum

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