Variant report

Variant	esv1812961
Chromosome Location	chr8:120144574-120161140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 568 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:568 , 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	rs16892098	chr8:120144574-120144575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150948839	chr8:120144584-120144585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577860057	chr8:120144619-120144620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140769467	chr8:120144652-120144653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374021954	chr8:120144691-120144692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188038728	chr8:120144717-120144718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs36030525	chr8:120144748-120144749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541609218	chr8:120144763-120144764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373961543	chr8:120144764-120144765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193031073	chr8:120144800-120144801	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs546652137	chr8:120144802-120144803	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs34444965	chr8:120144839-120144840	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs80018378	chr8:120144852-120144853	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs550693855	chr8:120144874-120144875	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs376007191	chr8:120144914-120144915	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs553161897	chr8:120144918-120144919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs145896237	chr8:120144934-120144935	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs185188089	chr8:120144970-120144971	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs552005349	chr8:120144991-120144992	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs560590735	chr8:120145010-120145011	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs147770286	chr8:120145011-120145012	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs533891257	chr8:120145016-120145017	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs555474719	chr8:120145027-120145028	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs529535226	chr8:120145065-120145066	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs147760768	chr8:120145067-120145068	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs572755798	chr8:120145080-120145081	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs370798525	chr8:120145086-120145087	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs369147261	chr8:120145118-120145119	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs189454530	chr8:120145144-120145145	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs541125470	chr8:120145148-120145149	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs182054765	chr8:120145170-120145171	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs59195472	chr8:120145175-120145176	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs16892101	chr8:120145224-120145225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532107092	chr8:120145238-120145239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183732365	chr8:120145241-120145242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571941521	chr8:120145244-120145245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542433572	chr8:120145267-120145268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562252957	chr8:120145273-120145274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529359234	chr8:120145274-120145275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141539773	chr8:120145299-120145300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188405340	chr8:120145343-120145344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562692985	chr8:120145355-120145356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180962024	chr8:120145393-120145394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186375288	chr8:120145399-120145400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567157136	chr8:120145435-120145436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141168453	chr8:120145455-120145456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143286395	chr8:120145486-120145487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372330727	chr8:120145539-120145540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191184285	chr8:120145604-120145605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549553841	chr8:120145719-120145720	Weak transcription Enhancers	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120134800-120147600	Weak transcription	HMEC	breast
2	chr8:120142400-120145000	Weak transcription	NHEK	skin
3	chr8:120142400-120145600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:120142400-120147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:120144400-120146600	Enhancers	Hela-S3	cervix
6	chr8:120144400-120146600	Enhancers	HUVEC	blood vessel
7	chr8:120144800-120145200	Bivalent Enhancer	Osteobl	bone
8	chr8:120144800-120145800	Enhancers	Fetal Intestine Small	intestine
9	chr8:120145000-120146000	Enhancers	NHEK	skin
10	chr8:120145600-120145800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:120145600-120146000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:120145800-120146000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:120145800-120147800	Weak transcription	Fetal Intestine Small	intestine
14	chr8:120146000-120147400	Weak transcription	NHEK	skin
15	chr8:120146000-120147600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:120146200-120150200	Enhancers	Stomach Mucosa	stomach
17	chr8:120146400-120146800	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:120146600-120147600	Weak transcription	Hela-S3	cervix
19	chr8:120146800-120148800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:120147400-120148000	Enhancers	NHEK	skin
21	chr8:120147600-120148000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:120147600-120148000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:120147600-120148000	Enhancers	HMEC	breast
24	chr8:120147600-120148200	Enhancers	Hela-S3	cervix
25	chr8:120147600-120148800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:120147800-120148000	Enhancers	Fetal Intestine Small	intestine
27	chr8:120148000-120148400	Weak transcription	Fetal Intestine Small	intestine
28	chr8:120148000-120156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:120148400-120148600	Enhancers	Fetal Intestine Small	intestine
30	chr8:120148400-120148800	Enhancers	Gastric	stomach
31	chr8:120148600-120155400	Weak transcription	Fetal Intestine Small	intestine
32	chr8:120148800-120149000	Enhancers	Duodenum Mucosa	Duodenum
33	chr8:120148800-120149600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:120149000-120149400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:120149400-120149600	Active TSS	Liver	Liver
36	chr8:120149400-120149800	Enhancers	Duodenum Mucosa	Duodenum
37	chr8:120149600-120149800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr8:120149600-120150200	Flanking Active TSS	Liver	Liver
39	chr8:120150200-120161200	Weak transcription	Stomach Mucosa	stomach
40	chr8:120155400-120156600	Enhancers	Fetal Intestine Small	intestine
41	chr8:120155600-120157200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr8:120155600-120158200	Enhancers	Fetal Intestine Large	intestine
43	chr8:120155800-120156600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:120155800-120158000	Enhancers	NHEK	skin
45	chr8:120156000-120156400	Enhancers	Fetal Lung	lung
46	chr8:120156000-120156400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr8:120156000-120156400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr8:120156000-120156800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:120156000-120157000	Enhancers	Duodenum Mucosa	Duodenum
50	chr8:120156000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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