Variant report

Variant	esv3343714
Chromosome Location	chr8:120147320-120161897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120157195..120160231-chr8:120218744..120222756,4	MCF-7	breast:
2	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:
3	chr8:120147555..120150630-chr8:120219231..120222097,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 478 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35183863	chr8:120147407-120147408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561470954	chr8:120147492-120147493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576662397	chr8:120147518-120147519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377409080	chr8:120147524-120147525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565089000	chr8:120147641-120147642	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534315256	chr8:120147662-120147663	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547054421	chr8:120147704-120147705	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559383272	chr8:120147719-120147720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192458333	chr8:120147916-120147917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562593847	chr8:120147934-120147935	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78251326	chr8:120147941-120147942	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4301474	chr8:120147980-120147981	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184803005	chr8:120147999-120148000	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374649261	chr8:120148037-120148038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570635654	chr8:120148056-120148057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568169989	chr8:120148084-120148085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141960485	chr8:120148085-120148086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146385569	chr8:120148098-120148099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369265271	chr8:120148128-120148129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536288415	chr8:120148161-120148162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560334871	chr8:120148186-120148187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554905730	chr8:120148214-120148215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576663700	chr8:120148235-120148236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543679094	chr8:120148298-120148299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs13275182	chr8:120148337-120148338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139419735	chr8:120148404-120148405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552471062	chr8:120148405-120148406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539570604	chr8:120148425-120148426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189538193	chr8:120148432-120148433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375963619	chr8:120148440-120148441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559230373	chr8:120148444-120148445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529788376	chr8:120148463-120148464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564304605	chr8:120148493-120148494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192569476	chr8:120148523-120148524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531621222	chr8:120148538-120148539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549819097	chr8:120148616-120148617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150070889	chr8:120148625-120148626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568227259	chr8:120148653-120148654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184527265	chr8:120148729-120148730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369876850	chr8:120148744-120148745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189795989	chr8:120148821-120148822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79131462	chr8:120148858-120148859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546762764	chr8:120148860-120148861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs56413724	chr8:120148880-120148881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201576131	chr8:120148941-120148942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370915044	chr8:120148966-120148967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536701605	chr8:120148970-120148971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148782674	chr8:120149100-120149101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569999808	chr8:120149103-120149104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs13248362	chr8:120149108-120149109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120134800-120147600	Weak transcription	HMEC	breast
2	chr8:120142400-120147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:120145800-120147800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:120146000-120147400	Weak transcription	NHEK	skin
5	chr8:120146000-120147600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:120146200-120150200	Enhancers	Stomach Mucosa	stomach
7	chr8:120146600-120147600	Weak transcription	Hela-S3	cervix
8	chr8:120146800-120148800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:120147400-120148000	Enhancers	NHEK	skin
10	chr8:120147600-120148000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:120147600-120148000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:120147600-120148000	Enhancers	HMEC	breast
13	chr8:120147600-120148200	Enhancers	Hela-S3	cervix
14	chr8:120147600-120148800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr8:120147800-120148000	Enhancers	Fetal Intestine Small	intestine
16	chr8:120148000-120148400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:120148000-120156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:120148400-120148600	Enhancers	Fetal Intestine Small	intestine
19	chr8:120148400-120148800	Enhancers	Gastric	stomach
20	chr8:120148600-120155400	Weak transcription	Fetal Intestine Small	intestine
21	chr8:120148800-120149000	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:120148800-120149600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:120149000-120149400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:120149400-120149600	Active TSS	Liver	Liver
25	chr8:120149400-120149800	Enhancers	Duodenum Mucosa	Duodenum
26	chr8:120149600-120149800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:120149600-120150200	Flanking Active TSS	Liver	Liver
28	chr8:120150200-120161200	Weak transcription	Stomach Mucosa	stomach
29	chr8:120155400-120156600	Enhancers	Fetal Intestine Small	intestine
30	chr8:120155600-120157200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr8:120155600-120158200	Enhancers	Fetal Intestine Large	intestine
32	chr8:120155800-120156600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:120155800-120158000	Enhancers	NHEK	skin
34	chr8:120156000-120156400	Enhancers	Fetal Lung	lung
35	chr8:120156000-120156400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr8:120156000-120156400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr8:120156000-120156800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:120156000-120157000	Enhancers	Duodenum Mucosa	Duodenum
39	chr8:120156000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:120156400-120156800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:120156400-120165000	Weak transcription	Fetal Lung	lung
42	chr8:120156600-120157000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:120156600-120157200	Weak transcription	Fetal Intestine Small	intestine
44	chr8:120156800-120157800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr8:120157000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:120157000-120160600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:120157200-120157800	Enhancers	Fetal Intestine Small	intestine
48	chr8:120157200-120161000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:120157800-120159000	Weak transcription	Fetal Intestine Small	intestine
50	chr8:120157800-120163200	Weak transcription	Rectal Mucosa Donor 31	rectum

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