Variant report

Variant	esv2759675
Chromosome Location	chr9:17811584-17828437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:17822817..17825077-chr9:17826697..17828392,2	K562	blood:
2	chr9:17822817..17825077-chr9:17826697..17828392,2	K562	blood:
3	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
4	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:
5	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:

Extended variants
information (count: 805 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:805 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10810852	chr9:17811584-17811585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527472495	chr9:17811591-17811592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186640843	chr9:17811615-17811616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534977777	chr9:17811634-17811635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10963281	chr9:17811654-17811655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562540351	chr9:17811705-17811706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144376627	chr9:17811718-17811719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535419008	chr9:17811752-17811753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557138429	chr9:17811789-17811790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148378142	chr9:17811854-17811855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546028123	chr9:17811861-17811862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557957500	chr9:17811877-17811878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572973996	chr9:17811889-17811890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10963282	chr9:17811897-17811898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10963283	chr9:17811909-17811910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530086038	chr9:17811955-17811956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10963284	chr9:17811998-17811999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368269908	chr9:17812004-17812005	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs530879572	chr9:17812026-17812027	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs552374061	chr9:17812050-17812051	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs72717265	chr9:17812054-17812055	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs549279825	chr9:17812073-17812074	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs373548279	chr9:17812084-17812085	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs547018750	chr9:17812117-17812118	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs567885567	chr9:17812121-17812122	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs141500821	chr9:17812124-17812125	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs535444097	chr9:17812126-17812127	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs117868714	chr9:17812155-17812156	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs568987713	chr9:17812160-17812161	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs539570125	chr9:17812170-17812171	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs183583675	chr9:17812178-17812179	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs139972665	chr9:17812186-17812187	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs187864527	chr9:17812222-17812223	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375644439	chr9:17812261-17812262	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145475136	chr9:17812263-17812264	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555232061	chr9:17812274-17812275	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192699517	chr9:17812310-17812311	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574607669	chr9:17812321-17812322	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563313506	chr9:17812354-17812355	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147241260	chr9:17812363-17812364	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182110089	chr9:17812405-17812406	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs573414487	chr9:17812418-17812419	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs186835201	chr9:17812427-17812428	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs10963285	chr9:17812457-17812458	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562251555	chr9:17812466-17812467	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs540299000	chr9:17812490-17812491	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs192596537	chr9:17812517-17812518	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs551275450	chr9:17812539-17812540	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs568907940	chr9:17812585-17812586	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs539433204	chr9:17812609-17812610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17796000-17812000	Weak transcription	Aorta	Aorta
2	chr9:17808400-17812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:17810600-17811800	Enhancers	Hela-S3	cervix
4	chr9:17810600-17812600	Enhancers	Fetal Brain Male	brain
5	chr9:17810800-17812400	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr9:17811000-17812800	Enhancers	Fetal Lung	lung
7	chr9:17811200-17811800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:17811200-17811800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:17811200-17812400	Weak transcription	Fetal Brain Female	brain
10	chr9:17811200-17814200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:17811400-17811800	Enhancers	Stomach Smooth Muscle	stomach
12	chr9:17811400-17812400	Enhancers	Fetal Heart	heart
13	chr9:17811400-17813000	Enhancers	Fetal Stomach	stomach
14	chr9:17811600-17811800	Enhancers	Colon Smooth Muscle	Colon
15	chr9:17811600-17812800	Enhancers	Fetal Muscle Leg	muscle
16	chr9:17811800-17812800	Enhancers	Fetal Kidney	kidney
17	chr9:17812000-17812200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:17812000-17812200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr9:17812000-17812200	Enhancers	Aorta	Aorta
20	chr9:17812000-17812600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr9:17812000-17812800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:17812000-17812800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:17812200-17812400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:17812200-17814200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:17812400-17812800	Enhancers	Brain Germinal Matrix	brain
26	chr9:17812400-17812800	Enhancers	Fetal Brain Female	brain
27	chr9:17812400-17813000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:17812400-17816200	Weak transcription	Fetal Heart	heart
29	chr9:17812600-17812800	Enhancers	Colon Smooth Muscle	Colon
30	chr9:17812600-17815800	Weak transcription	Fetal Brain Male	brain
31	chr9:17812800-17814000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:17812800-17816400	Weak transcription	Fetal Brain Female	brain
33	chr9:17814200-17814400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:17814200-17814600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:17814200-17814600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:17814400-17814600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:17814400-17814600	Enhancers	Aorta	Aorta
38	chr9:17814600-17816400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:17815800-17816200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:17815800-17817400	Enhancers	Fetal Brain Male	brain
41	chr9:17816200-17816800	Enhancers	Fetal Heart	heart
42	chr9:17816200-17817000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:17816400-17816600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:17816400-17817000	Enhancers	Fetal Brain Female	brain
45	chr9:17817000-17821800	Weak transcription	Fetal Brain Female	brain
46	chr9:17817400-17823600	Weak transcription	Fetal Brain Male	brain
47	chr9:17821400-17824400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr9:17821800-17822000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:17821800-17822400	Enhancers	Fetal Brain Female	brain
50	chr9:17822000-17823600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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