Variant report

Variant	esv3402396
Chromosome Location	chr8:121869621-121871769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121865313..121867738-chr8:121870281..121872439,2	MCF-7	breast:
2	chr8:121865791..121868375-chr8:121870953..121873135,2	K562	blood:
3	chr8:121854976..121857000-chr8:121869044..121870751,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533118302	chr8:121869666-121869667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142425242	chr8:121869706-121869707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs570590622	chr8:121869731-121869732	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs542308813	chr8:121869799-121869800	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533619107	chr8:121869814-121869815	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs373322560	chr8:121869815-121869816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554990230	chr8:121869849-121869850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73707199	chr8:121869921-121869922	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115301581	chr8:121869933-121869934	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs557586672	chr8:121869940-121869941	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs375724717	chr8:121869983-121869984	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575772021	chr8:121870024-121870025	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146850125	chr8:121870043-121870044	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140263458	chr8:121870068-121870069	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192420203	chr8:121870165-121870166	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144053973	chr8:121870179-121870180	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182684320	chr8:121870216-121870217	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574034380	chr8:121870255-121870256	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146413125	chr8:121870285-121870286	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538045906	chr8:121870357-121870358	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562765307	chr8:121870366-121870367	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556309995	chr8:121870391-121870392	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368885612	chr8:121870407-121870408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140741942	chr8:121870410-121870411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373453883	chr8:121870412-121870413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6990876	chr8:121870445-121870446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs200207206	chr8:121870475-121870476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12541710	chr8:121870478-121870479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6990903	chr8:121870497-121870498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs543301637	chr8:121870509-121870510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554989796	chr8:121870540-121870541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112306568	chr8:121870543-121870544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575825486	chr8:121870549-121870550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186734928	chr8:121870606-121870607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71571682	chr8:121870611-121870612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191872135	chr8:121870621-121870622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs67126046	chr8:121870623-121870624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202069402	chr8:121870634-121870635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62527006	chr8:121870635-121870636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7461182	chr8:121870637-121870638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs60361822	chr8:121870639-121870640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370277180	chr8:121870641-121870642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372980191	chr8:121870643-121870644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28552381	chr8:121870647-121870648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74847865	chr8:121870649-121870650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376509960	chr8:121870657-121870658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540594642	chr8:121870660-121870661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12549367	chr8:121870661-121870662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71308615	chr8:121870671-121870672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73327024	chr8:121870711-121870712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:141)

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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121838400-121869800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:121864600-121870000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:121868200-121872600	Enhancers	NHLF	lung
4	chr8:121868400-121871400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:121868800-121871000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:121868800-121874600	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:121868800-121877200	Enhancers	HepG2	liver
8	chr8:121869000-121869800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr8:121869000-121870200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:121869000-121870400	Enhancers	Dnd41	blood
11	chr8:121869000-121870600	Enhancers	HSMMtube	muscle
12	chr8:121869000-121871600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:121869000-121874600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:121869000-121874800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:121869200-121869800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:121869200-121869800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:121869200-121869800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:121869200-121869800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr8:121869200-121870200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr8:121869200-121870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:121869200-121870400	Enhancers	Primary B cells from cord blood	blood
22	chr8:121869200-121870400	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:121869200-121870400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:121869200-121870400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:121869200-121870400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:121869200-121870400	Enhancers	Fetal Thymus	thymus
27	chr8:121869200-121870400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:121869200-121870400	Enhancers	HMEC	breast
29	chr8:121869200-121870400	Enhancers	HUVEC	blood vessel
30	chr8:121869200-121870400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:121869200-121870400	Enhancers	NH-A	brain
32	chr8:121869200-121871000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:121869200-121871000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:121869200-121871000	Enhancers	Fetal Muscle Leg	muscle
35	chr8:121869200-121871000	Enhancers	HSMM	muscle
36	chr8:121869400-121869800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:121869400-121869800	Flanking Active TSS	Osteobl	bone
38	chr8:121869400-121870000	Enhancers	Colonic Mucosa	Colon
39	chr8:121869400-121870200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr8:121869400-121870200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:121869400-121870200	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:121869400-121870200	Enhancers	Fetal Intestine Large	intestine
43	chr8:121869400-121870400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:121869400-121870400	Enhancers	Liver	Liver
45	chr8:121869400-121870400	Enhancers	Fetal Lung	lung
46	chr8:121869400-121870400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr8:121869400-121870400	Enhancers	Small Intestine	intestine
48	chr8:121869400-121870400	Enhancers	Thymus	Thymus
49	chr8:121869400-121871000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:121869400-121871000	Enhancers	Fetal Kidney	kidney

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