Variant report

Variant	esv3480542
Chromosome Location	chr8:91545158-91546166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91532071..91534513-chr8:91543640..91546018,2	MCF-7	breast:
2	chr8:91544462..91546603-chr8:91546788..91549297,3	MCF-7	breast:
3	chr8:91545718..91547242-chr8:91550025..91552385,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558723248	chr8:91545186-91545187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139145334	chr8:91545218-91545219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541019833	chr8:91545360-91545361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2285231	chr8:91545387-91545388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs199995291	chr8:91545436-91545437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188572386	chr8:91545437-91545438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555080380	chr8:91545541-91545542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542479142	chr8:91545542-91545543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192121968	chr8:91545560-91545561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575072123	chr8:91545571-91545572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149941770	chr8:91545591-91545592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552824648	chr8:91545612-91545613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571013384	chr8:91545629-91545630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143823526	chr8:91545674-91545675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372004336	chr8:91545676-91545677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528090284	chr8:91545781-91545782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183198236	chr8:91545783-91545784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371233392	chr8:91545787-91545788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575872352	chr8:91545826-91545827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567830030	chr8:91545884-91545885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535161660	chr8:91545919-91545920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556764294	chr8:91545951-91545952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568702728	chr8:91545976-91545977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539220223	chr8:91545989-91545990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558036804	chr8:91546045-91546046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573026727	chr8:91546052-91546053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541433581	chr8:91546077-91546078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145045193	chr8:91546082-91546083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575016086	chr8:91546084-91546085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542342092	chr8:91546088-91546089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563910902	chr8:91546099-91546100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546439942	chr8:91546105-91546106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115387681	chr8:91546143-91546144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546031543	chr8:91546145-91546146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2285232	chr8:91546162-91546163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91533800-91545800	Weak transcription	HSMMtube	muscle
2	chr8:91543000-91545800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:91543000-91546200	Weak transcription	HUVEC	blood vessel
4	chr8:91543200-91545600	Weak transcription	NHEK	skin
5	chr8:91543200-91545800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:91543200-91545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:91543200-91545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:91544800-91546600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:91544800-91552400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:91545400-91550000	Enhancers	HSMM	muscle
11	chr8:91545600-91550000	Enhancers	NHEK	skin
12	chr8:91545800-91546000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:91545800-91546800	Enhancers	NHDF-Ad	bronchial
14	chr8:91545800-91547000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:91545800-91547200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:91545800-91547200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:91545800-91547200	Enhancers	Hela-S3	cervix
18	chr8:91545800-91547200	Enhancers	NH-A	brain
19	chr8:91545800-91547400	Enhancers	HSMMtube	muscle
20	chr8:91545800-91547600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:91545800-91549600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:91545800-91550000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:91545800-91550000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:91545800-91550000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr8:91545800-91550000	Enhancers	HMEC	breast
26	chr8:91546000-91546600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:91546000-91547200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links