Variant report

Variant	esv3450686
Chromosome Location	chr8:121486891-121489170
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	chr8:121481546..121483918-chr8:121486505..121488049,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545424801	chr8:121486908-121486909	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs78206813	chr8:121486967-121486968	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564645642	chr8:121487038-121487039	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs367996236	chr8:121487041-121487042	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs12386936	chr8:121487047-121487048	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs560609443	chr8:121487067-121487068	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528018682	chr8:121487082-121487083	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs531046671	chr8:121487123-121487124	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs375679606	chr8:121487124-121487125	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549721587	chr8:121487170-121487171	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567827161	chr8:121487216-121487217	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs531952408	chr8:121487227-121487228	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141638263	chr8:121487263-121487264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571760204	chr8:121487264-121487265	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538646588	chr8:121487288-121487289	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181014771	chr8:121487324-121487325	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs565812592	chr8:121487405-121487406	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549576270	chr8:121487431-121487432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369767145	chr8:121487452-121487453	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs77085215	chr8:121487493-121487494	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185292752	chr8:121487530-121487531	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs150436172	chr8:121487548-121487549	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575788800	chr8:121487573-121487574	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543213816	chr8:121487601-121487602	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs372386401	chr8:121487630-121487631	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62528321	chr8:121487636-121487637	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376004907	chr8:121487647-121487648	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555159943	chr8:121487743-121487744	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558223920	chr8:121487768-121487769	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576908488	chr8:121487831-121487832	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9642851	chr8:121487870-121487871	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559274688	chr8:121487923-121487924	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs190346792	chr8:121487972-121487973	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543304136	chr8:121487982-121487983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs80355095	chr8:121488037-121488038	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531938309	chr8:121488061-121488062	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550436565	chr8:121488062-121488063	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183193890	chr8:121488071-121488072	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547022716	chr8:121488090-121488091	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565217299	chr8:121488183-121488184	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571909150	chr8:121488279-121488280	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116160045	chr8:121488424-121488425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547595640	chr8:121488438-121488439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs12549483	chr8:121488453-121488454	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536254365	chr8:121488456-121488457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548031968	chr8:121488466-121488467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569658638	chr8:121488469-121488470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188476660	chr8:121488472-121488473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs558747161	chr8:121488490-121488491	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576987970	chr8:121488497-121488498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
3	chr8:121458400-121488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:121458400-121490200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:121458400-121501000	Weak transcription	Ovary	ovary
6	chr8:121458600-121487200	Weak transcription	Fetal Brain Female	brain
7	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:121458800-121489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:121458800-121491000	Weak transcription	HMEC	breast
11	chr8:121458800-121504000	Weak transcription	Fetal Heart	heart
12	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
13	chr8:121458800-121510400	Weak transcription	NHLF	lung
14	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:121461000-121491000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:121467000-121488000	Weak transcription	HSMM	muscle
18	chr8:121468600-121501800	Weak transcription	HUVEC	blood vessel
19	chr8:121469200-121515200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:121470000-121502400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:121470400-121491000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:121470600-121490400	Weak transcription	Liver	Liver
23	chr8:121474600-121488200	Weak transcription	Fetal Lung	lung
24	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:121477800-121503800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:121478200-121488200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:121479200-121487400	Strong transcription	Dnd41	blood
28	chr8:121479600-121487200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:121480000-121501000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:121480800-121487600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:121481200-121487400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:121481200-121491000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:121481800-121488800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:121481800-121501600	Weak transcription	Fetal Stomach	stomach
35	chr8:121482600-121503800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:121483000-121487800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:121483200-121487000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:121483400-121501600	Weak transcription	Primary B cells from cord blood	blood
39	chr8:121484200-121488000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:121484400-121541800	Weak transcription	Left Ventricle	heart
41	chr8:121484600-121487400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr8:121485000-121487400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:121485000-121488000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:121485000-121488400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:121485800-121487600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:121485800-121488800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:121486000-121487400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:121486000-121487400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr8:121486000-121488800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:121486000-121490800	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links