Variant report

Variant	esv12564
Chromosome Location	chr8:103053958-103056707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103054616..103056405-chr8:103111193..103113703,2	MCF-7	breast:
2	chr8:103053043..103055176-chr8:103059742..103061344,2	MCF-7	breast:
3	chr8:103045659..103047816-chr8:103052482..103055042,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547852652	chr8:103053996-103053997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7007251	chr8:103054099-103054100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560213888	chr8:103054116-103054117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377553425	chr8:103054137-103054138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545814649	chr8:103054243-103054244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564395908	chr8:103054295-103054296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150285277	chr8:103054306-103054307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549567241	chr8:103054336-103054337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537280245	chr8:103054378-103054379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1111910	chr8:103054467-103054468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1111909	chr8:103054583-103054584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540076435	chr8:103054604-103054605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs137931699	chr8:103054622-103054623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1893533	chr8:103054644-103054645	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149475608	chr8:103054647-103054648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1893532	chr8:103054710-103054711	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs118181472	chr8:103054717-103054718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537701377	chr8:103054822-103054823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535830015	chr8:103054837-103054838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554668006	chr8:103054850-103054851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182917156	chr8:103054870-103054871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5893595	chr8:103054893-103054894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73697443	chr8:103054897-103054898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535572433	chr8:103054900-103054901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575801313	chr8:103054935-103054936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201638937	chr8:103054940-103054941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139138233	chr8:103054941-103054942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113900796	chr8:103054943-103054944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376410734	chr8:103054944-103054945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187214135	chr8:103054945-103054946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56718930	chr8:103054949-103054950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5893598	chr8:103054994-103054995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76950526	chr8:103055004-103055005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571987070	chr8:103055016-103055017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138753411	chr8:103055040-103055041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543618940	chr8:103055209-103055210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1111908	chr8:103055219-103055220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563451703	chr8:103055227-103055228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143208277	chr8:103055262-103055263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561565623	chr8:103055283-103055284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147521121	chr8:103055301-103055302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546044878	chr8:103055311-103055312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559796713	chr8:103055332-103055333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140148952	chr8:103055362-103055363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145663319	chr8:103055434-103055435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150607485	chr8:103055470-103055471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193119949	chr8:103055487-103055488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2051248	chr8:103055520-103055521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568208219	chr8:103055540-103055541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537033051	chr8:103055604-103055605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103047200-103054000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:103050800-103054400	Weak transcription	Lung	lung
3	chr8:103050800-103054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:103051200-103054000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:103051400-103054600	Weak transcription	Right Ventricle	heart
6	chr8:103051400-103056200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:103051400-103056600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:103051600-103055800	Weak transcription	Fetal Brain Male	brain
9	chr8:103051600-103064600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:103053000-103055000	Enhancers	Right Atrium	heart
11	chr8:103053400-103054200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:103053600-103054000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:103053600-103054200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:103053600-103054200	Enhancers	Fetal Heart	heart
15	chr8:103053600-103054400	Enhancers	Stomach Smooth Muscle	stomach
16	chr8:103053600-103055000	Enhancers	Left Ventricle	heart
17	chr8:103053600-103057600	Enhancers	Ovary	ovary
18	chr8:103053800-103054000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:103053800-103054200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:103053800-103054200	Enhancers	Fetal Kidney	kidney
21	chr8:103053800-103054600	Weak transcription	Small Intestine	intestine
22	chr8:103053800-103057000	Weak transcription	Psoas Muscle	Psoas
23	chr8:103053800-103072600	Weak transcription	Aorta	Aorta
24	chr8:103054000-103054400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:103054000-103056600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:103054200-103054400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:103054200-103054800	Weak transcription	Fetal Heart	heart
28	chr8:103054200-103055400	Weak transcription	Fetal Kidney	kidney
29	chr8:103054200-103056200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:103054400-103055000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:103054600-103054800	Enhancers	Right Ventricle	heart
32	chr8:103054600-103054800	Enhancers	Small Intestine	intestine
33	chr8:103054600-103055000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:103054800-103055200	Weak transcription	Right Ventricle	heart
35	chr8:103054800-103056600	Weak transcription	Small Intestine	intestine
36	chr8:103054800-103057400	Enhancers	Fetal Heart	heart
37	chr8:103055000-103056600	Weak transcription	Right Atrium	heart
38	chr8:103055000-103057000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:103055000-103057000	Weak transcription	Left Ventricle	heart
40	chr8:103055200-103055400	Enhancers	Right Ventricle	heart
41	chr8:103055400-103055800	Enhancers	Fetal Kidney	kidney
42	chr8:103055400-103056600	Weak transcription	Right Ventricle	heart
43	chr8:103055800-103056200	Enhancers	Fetal Brain Male	brain
44	chr8:103055800-103057000	Weak transcription	Fetal Kidney	kidney
45	chr8:103056200-103056600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:103056200-103056800	Enhancers	Adipose Nuclei	Adipose
47	chr8:103056600-103057200	Enhancers	Right Atrium	heart
48	chr8:103056600-103057200	Enhancers	Right Ventricle	heart
49	chr8:103056600-103057600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:103056600-103057600	Enhancers	Skeletal Muscle Female	skeletal muscle

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