Variant report

Variant	esv2752735
Chromosome Location	chr8:114752928-114864148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:114854128..114856443-chr8:114857146..114858735,2	MCF-7	breast:
2	chr8:114823206..114825087-chr8:114825819..114828055,2	MCF-7	breast:
3	chr8:114816422..114818283-chr8:114819579..114821682,2	K562	blood:
4	chr8:114816422..114818283-chr8:114819579..114821682,2	K562	blood:
5	chr8:114823206..114825087-chr8:114825819..114828055,2	MCF-7	breast:
6	chr8:114854128..114856443-chr8:114857146..114858735,2	MCF-7	breast:

Extended variants
information (count: 591 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10104685	chr8:114752928-114752929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187580019	chr8:114752942-114752943	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150914506	chr8:114752965-114752966	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577198504	chr8:114752970-114752971	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546065329	chr8:114752989-114752990	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556227660	chr8:114752990-114752991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576304992	chr8:114753009-114753010	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs137898630	chr8:114753060-114753061	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189716598	chr8:114753066-114753067	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs149470738	chr8:114753068-114753069	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs4876525	chr8:114753072-114753073	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4876526	chr8:114753087-114753088	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111354121	chr8:114753098-114753099	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552826686	chr8:114753109-114753110	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs562993716	chr8:114753115-114753116	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531892489	chr8:114753184-114753185	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs548339733	chr8:114753202-114753203	Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76134535	chr8:114753222-114753223	Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs183091192	chr8:114753243-114753244	Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547608295	chr8:114753245-114753246	Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4876527	chr8:114753258-114753259	Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539492873	chr8:114753264-114753265	Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565711323	chr8:114753279-114753280	Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556527446	chr8:114753295-114753296	Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs75159513	chr8:114753323-114753324	Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376968376	chr8:114753417-114753418	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535765748	chr8:114753419-114753420	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555575333	chr8:114753434-114753435	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4876528	chr8:114753522-114753523	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs9297505	chr8:114753573-114753574	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs535120360	chr8:114753615-114753616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187812590	chr8:114753638-114753639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140412145	chr8:114753790-114753791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7838649	chr8:114753824-114753825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7842112	chr8:114753855-114753856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372800285	chr8:114753896-114753897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548497744	chr8:114753966-114753967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561928453	chr8:114754030-114754031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144375895	chr8:114754044-114754045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547864002	chr8:114754073-114754074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549825556	chr8:114754079-114754080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570480007	chr8:114754124-114754125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191970109	chr8:114754128-114754129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185080920	chr8:114754134-114754135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534676844	chr8:114754173-114754174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570088674	chr8:114754208-114754209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575248696	chr8:114754332-114754333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188797937	chr8:114754358-114754359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565930975	chr8:114754416-114754417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375721770	chr8:114754418-114754419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114749800-114753000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:114750600-114753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:114752200-114753400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:114752200-114753400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:114752600-114753400	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:114752600-114753400	Enhancers	HMEC	breast
7	chr8:114752600-114753400	Enhancers	NH-A	brain
8	chr8:114752800-114753000	Flanking Active TSS	HUVEC	blood vessel
9	chr8:114752800-114753200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:114752800-114753400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:114752800-114753600	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:114753000-114753200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:114753000-114753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:114753000-114753400	Enhancers	HUVEC	blood vessel
15	chr8:114753200-114753400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:114753200-114753600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:114753200-114756200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:114753400-114753600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:114753400-114753600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:114753400-114755200	Weak transcription	HUVEC	blood vessel
21	chr8:114753600-114753800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:114753600-114754800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:114754800-114755800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:114755200-114755600	Enhancers	HUVEC	blood vessel
25	chr8:114773400-114775200	Enhancers	Dnd41	blood
26	chr8:114775400-114776000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:114796000-114796400	Enhancers	Dnd41	blood
28	chr8:114796400-114798400	Weak transcription	Dnd41	blood
29	chr8:114798400-114799000	Enhancers	Dnd41	blood
30	chr8:114799000-114799400	Flanking Active TSS	Dnd41	blood
31	chr8:114799400-114799800	Enhancers	Dnd41	blood
32	chr8:114799800-114800800	Flanking Active TSS	Dnd41	blood
33	chr8:114800600-114801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:114800800-114801200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:114800800-114802600	Enhancers	Dnd41	blood
36	chr8:114802600-114802800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:114802600-114803400	ZNF genes & repeats	Dnd41	blood
38	chr8:114802800-114803400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:114802800-114803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:114803400-114803600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:114803400-114804400	Weak transcription	Dnd41	blood
42	chr8:114804400-114805200	Enhancers	Dnd41	blood
43	chr8:114805600-114806000	Active TSS	Aorta	Aorta
44	chr8:114812800-114813000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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