Variant report

Variant	esv1814238
Chromosome Location	chr8:120135125-120161140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119724012..119726064-chr8:120134781..120136328,2	MCF-7	breast:
2	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:
3	chr8:120157195..120160231-chr8:120218744..120222756,4	MCF-7	breast:
4	chr8:120123624..120126325-chr8:120143117..120145371,2	MCF-7	breast:
5	chr8:120147555..120150630-chr8:120219231..120222097,3	MCF-7	breast:
6	chr8:120124264..120124843-chr8:120145286..120146057,2	MCF-7	breast:
7	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 909 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:909 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13269842	chr8:120135125-120135126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72492639	chr8:120135129-120135130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59934464	chr8:120135131-120135132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72682446	chr8:120135159-120135160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376565567	chr8:120135221-120135222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552947336	chr8:120135234-120135235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574835552	chr8:120135297-120135298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143523407	chr8:120135298-120135299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563544005	chr8:120135309-120135310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575714867	chr8:120135322-120135323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546363057	chr8:120135324-120135325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184321966	chr8:120135352-120135353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557305359	chr8:120135355-120135356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370575526	chr8:120135378-120135379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564052670	chr8:120135417-120135418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575734427	chr8:120135418-120135419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528185277	chr8:120135434-120135435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62532217	chr8:120135473-120135474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546656643	chr8:120135475-120135476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189604201	chr8:120135481-120135482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191598008	chr8:120135496-120135497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529202839	chr8:120135522-120135523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183885837	chr8:120135560-120135561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35510784	chr8:120135594-120135595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569052040	chr8:120135604-120135605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59688913	chr8:120135608-120135609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543113404	chr8:120135613-120135614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539291725	chr8:120135625-120135626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551533873	chr8:120135636-120135637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570905196	chr8:120135641-120135642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534784655	chr8:120135659-120135660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144285893	chr8:120135670-120135671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188573600	chr8:120135683-120135684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574445721	chr8:120135689-120135690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149935277	chr8:120135695-120135696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67999403	chr8:120135696-120135697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368632323	chr8:120135699-120135700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201743179	chr8:120135700-120135701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535768566	chr8:120135728-120135729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114071170	chr8:120135784-120135785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73327262	chr8:120135801-120135802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368646971	chr8:120135873-120135874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147979561	chr8:120135888-120135889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564692309	chr8:120135926-120135927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141634865	chr8:120135948-120135949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115682807	chr8:120135959-120135960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77035547	chr8:120136021-120136022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150155037	chr8:120136054-120136055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138951448	chr8:120136099-120136100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540823036	chr8:120136277-120136278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
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
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	17603634	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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120134400-120136000	Weak transcription	HUVEC	blood vessel
2	chr8:120134600-120137800	Weak transcription	NH-A	brain
3	chr8:120134800-120137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:120134800-120137400	Weak transcription	Osteobl	bone
5	chr8:120134800-120141600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:120134800-120141600	Weak transcription	NHEK	skin
7	chr8:120134800-120141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:120134800-120147600	Weak transcription	HMEC	breast
9	chr8:120136000-120136400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:120136000-120136400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:120136000-120136600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:120136000-120136600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:120136000-120136600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:120136000-120136600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:120136000-120136600	Enhancers	HUVEC	blood vessel
16	chr8:120136000-120136800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:120136000-120137800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:120136200-120137000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:120136400-120139000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:120136600-120141600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:120137000-120137400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:120137200-120137800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:120137200-120139000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:120137400-120137600	Enhancers	Osteobl	bone
25	chr8:120137400-120138000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:120137800-120138000	Enhancers	NH-A	brain
27	chr8:120138000-120138200	Enhancers	Fetal Brain Male	brain
28	chr8:120138000-120139400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:120138200-120139200	Weak transcription	Fetal Brain Male	brain
30	chr8:120139200-120139600	Enhancers	Fetal Brain Male	brain
31	chr8:120141600-120141800	Enhancers	NHEK	skin
32	chr8:120141600-120142000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:120141600-120142400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:120141800-120142200	Weak transcription	NHEK	skin
35	chr8:120141800-120142400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:120142000-120142200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:120142200-120142400	Enhancers	NHEK	skin
38	chr8:120142200-120142600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:120142400-120145000	Weak transcription	NHEK	skin
40	chr8:120142400-120145600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:120142400-120147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:120144400-120146600	Enhancers	Hela-S3	cervix
43	chr8:120144400-120146600	Enhancers	HUVEC	blood vessel
44	chr8:120144800-120145200	Bivalent Enhancer	Osteobl	bone
45	chr8:120144800-120145800	Enhancers	Fetal Intestine Small	intestine
46	chr8:120145000-120146000	Enhancers	NHEK	skin
47	chr8:120145600-120145800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr8:120145600-120146000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:120145800-120146000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:120145800-120147800	Weak transcription	Fetal Intestine Small	intestine

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