Variant report

Variant	esv3513666
Chromosome Location	chr8:120154484-120161265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120157195..120160231-chr8:120218744..120222756,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144892580	chr8:120154489-120154490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569833343	chr8:120154576-120154577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549730976	chr8:120154597-120154598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537228036	chr8:120154616-120154617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56940872	chr8:120154622-120154623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185999583	chr8:120154642-120154643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4537332	chr8:120154663-120154664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550299036	chr8:120154684-120154685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200432690	chr8:120154711-120154712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116456624	chr8:120154760-120154761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372980560	chr8:120154767-120154768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554823833	chr8:120154819-120154820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190677919	chr8:120154880-120154881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368898625	chr8:120154896-120154897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553549470	chr8:120154906-120154907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367549099	chr8:120155013-120155014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576254312	chr8:120155021-120155022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543603926	chr8:120155060-120155061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564678351	chr8:120155068-120155069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565761600	chr8:120155125-120155126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182352798	chr8:120155208-120155209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532191586	chr8:120155258-120155259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35838087	chr8:120155364-120155365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540673197	chr8:120155396-120155397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185555334	chr8:120155408-120155409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529961043	chr8:120155420-120155421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149044037	chr8:120155462-120155463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570206604	chr8:120155510-120155511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539207612	chr8:120155562-120155563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569945648	chr8:120155574-120155575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13257113	chr8:120155591-120155592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552910991	chr8:120155608-120155609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190266136	chr8:120155609-120155610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575868798	chr8:120155615-120155616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113885205	chr8:120155621-120155622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571662231	chr8:120155638-120155639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142199276	chr8:120155669-120155670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76652280	chr8:120155768-120155769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75961499	chr8:120155771-120155772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73327295	chr8:120155826-120155827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs58035790	chr8:120155843-120155844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139048789	chr8:120155872-120155873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60060779	chr8:120155876-120155877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576317150	chr8:120155925-120155926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151223552	chr8:120155933-120155934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140326811	chr8:120155973-120155974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200992470	chr8:120156029-120156030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576885930	chr8:120156033-120156034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559527528	chr8:120156118-120156119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575750325	chr8:120156129-120156130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120148000-120156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:120148600-120155400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:120150200-120161200	Weak transcription	Stomach Mucosa	stomach
4	chr8:120155400-120156600	Enhancers	Fetal Intestine Small	intestine
5	chr8:120155600-120157200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr8:120155600-120158200	Enhancers	Fetal Intestine Large	intestine
7	chr8:120155800-120156600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:120155800-120158000	Enhancers	NHEK	skin
9	chr8:120156000-120156400	Enhancers	Fetal Lung	lung
10	chr8:120156000-120156400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr8:120156000-120156400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:120156000-120156800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:120156000-120157000	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:120156000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:120156400-120156800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:120156400-120165000	Weak transcription	Fetal Lung	lung
17	chr8:120156600-120157000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:120156600-120157200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:120156800-120157800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:120157000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:120157000-120160600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:120157200-120157800	Enhancers	Fetal Intestine Small	intestine
23	chr8:120157200-120161000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:120157800-120159000	Weak transcription	Fetal Intestine Small	intestine
25	chr8:120157800-120163200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:120158000-120165200	Weak transcription	NHEK	skin
27	chr8:120158200-120159800	Weak transcription	Fetal Intestine Large	intestine
28	chr8:120159000-120159800	Enhancers	Fetal Intestine Small	intestine
29	chr8:120159800-120160600	Weak transcription	Fetal Intestine Small	intestine
30	chr8:120159800-120162000	Enhancers	Fetal Intestine Large	intestine
31	chr8:120160400-120160600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:120160600-120161000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:120160600-120161800	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:120160600-120162000	Enhancers	Fetal Intestine Small	intestine
35	chr8:120160800-120161600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:120161000-120161400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:120161000-120161400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr8:120161000-120161600	Enhancers	HUES6 Cell Line	embryonic stem cell

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