Variant report

Variant	nsv971701
Chromosome Location	chr8:125909483-125925671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125868099..125870642-chr8:125912665..125915538,2	MCF-7	breast:
2	chr8:125915838..125917355-chr8:125919425..125921505,2	MCF-7	breast:
3	chr8:125901791..125903358-chr8:125908573..125910554,2	K562	blood:
4	chr8:125920176..125921678-chr8:125923372..125925629,2	MCF-7	breast:
5	chr8:125867907..125869497-chr8:125918999..125920698,2	MCF-7	breast:
6	chr8:125864922..125866655-chr8:125925294..125927990,2	MCF-7	breast:
7	chr8:125878699..125880326-chr8:125918486..125921255,2	MCF-7	breast:
8	chr8:125552008..125555591-chr8:125913115..125916753,3	K562	blood:
9	chr8:125921782..125924509-chr8:125964835..125967359,2	K562	blood:
10	chr8:125919411..125921698-chr8:125926502..125928708,2	MCF-7	breast:
11	chr8:125918058..125920568-chr8:125931975..125935627,4	MCF-7	breast:
12	chr8:125921317..125924138-chr8:125956961..125959492,2	MCF-7	breast:
13	chr8:125827650..125829441-chr8:125917786..125919510,2	K562	blood:
14	chr8:125920176..125921678-chr8:125923372..125925629,2	MCF-7	breast:
15	chr8:125908171..125909770-chr8:125964003..125966026,2	MCF-7	breast:
16	chr8:125900915..125903416-chr8:125906634..125910674,4	K562	blood:
17	chr8:125922613..125924246-chr8:125927138..125929372,2	MCF-7	breast:
18	chr8:125795816..125798581-chr8:125915709..125918279,2	MCF-7	breast:
19	chr8:125915838..125917355-chr8:125919425..125921505,2	MCF-7	breast:
20	chr8:125922807..125927741-chr8:125929705..125933401,5	MCF-7	breast:
21	chr8:125896919..125899304-chr8:125915805..125917782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255080	chromatin interactions
ENSG00000249816	chromatin interactions
ENSG00000250428	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000255491	chromatin interactions

Extended variants
information (count: 735 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558265109	chr8:125909511-125909512	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs9785134	chr8:125909523-125909524	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138230449	chr8:125909530-125909531	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs534531964	chr8:125909549-125909550	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs111830232	chr8:125909603-125909604	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs9785135	chr8:125909608-125909609	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574565176	chr8:125909609-125909610	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs543398835	chr8:125909613-125909614	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs145131889	chr8:125909615-125909616	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs181139908	chr8:125909624-125909625	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs186456195	chr8:125909625-125909626	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs565399829	chr8:125909685-125909686	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs527737432	chr8:125909691-125909692	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs7834130	chr8:125909696-125909697	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148566325	chr8:125909817-125909818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561507589	chr8:125909826-125909827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371082195	chr8:125909836-125909837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142939131	chr8:125909865-125909866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151112765	chr8:125909874-125909875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550235159	chr8:125909881-125909882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141120457	chr8:125909911-125909912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532029958	chr8:125909945-125909946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113311269	chr8:125909957-125909958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565442812	chr8:125909974-125909975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534451045	chr8:125909977-125909978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57244622	chr8:125909980-125909981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568187567	chr8:125910007-125910008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568172535	chr8:125910012-125910013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143587023	chr8:125910029-125910030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113780357	chr8:125910039-125910040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577038928	chr8:125910071-125910072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539037336	chr8:125910078-125910079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113327520	chr8:125910079-125910080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367780834	chr8:125910098-125910099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558952418	chr8:125910154-125910155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140573200	chr8:125910162-125910163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535590531	chr8:125910196-125910197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3763546	chr8:125910293-125910294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145708987	chr8:125910294-125910295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574971830	chr8:125910295-125910296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76327134	chr8:125910297-125910298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138019527	chr8:125910311-125910312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532795325	chr8:125910348-125910349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181039753	chr8:125910371-125910372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558968879	chr8:125910372-125910373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539485064	chr8:125910430-125910431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547913867	chr8:125910437-125910438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375441034	chr8:125910498-125910499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117861453	chr8:125910509-125910510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550702782	chr8:125910526-125910527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

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
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
Acute myeloid leukemia	20729466	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
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
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125903000-125911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125907000-125911200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:125907400-125910600	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:125907600-125909600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:125907600-125910600	Enhancers	Primary B cells from cord blood	blood
8	chr8:125908000-125909600	Enhancers	Primary T cells from cord blood	blood
9	chr8:125908200-125909600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:125909000-125909600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:125909000-125909800	Bivalent Enhancer	HepG2	liver
12	chr8:125909000-125914000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:125909200-125909600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125909200-125909600	Enhancers	Liver	Liver
15	chr8:125909200-125909800	Enhancers	Esophagus	oesophagus
16	chr8:125909200-125910200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:125909200-125911000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:125909400-125910200	Enhancers	K562	blood
19	chr8:125909800-125911400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:125910000-125910200	Enhancers	Placenta	Placenta
21	chr8:125910200-125911200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:125910800-125914000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:125911000-125911800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:125911200-125912400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:125911800-125922200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:125913800-125914400	Enhancers	Fetal Intestine Small	intestine
27	chr8:125914000-125914400	Enhancers	Fetal Intestine Large	intestine
28	chr8:125914000-125919800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:125914400-125916800	Weak transcription	Fetal Intestine Large	intestine
30	chr8:125914400-125919600	Weak transcription	Fetal Intestine Small	intestine
31	chr8:125915400-125915800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:125915400-125916200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:125916800-125917800	Enhancers	Fetal Intestine Large	intestine
34	chr8:125917200-125917600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr8:125917200-125918800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:125917400-125918000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:125917600-125918200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:125917800-125918200	Enhancers	Esophagus	oesophagus
39	chr8:125918200-125919600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr8:125918600-125918800	Enhancers	Brain Angular Gyrus	brain
41	chr8:125918800-125919000	Enhancers	Brain Hippocampus Middle	brain
42	chr8:125918800-125919000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:125918800-125919200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:125918800-125919200	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr8:125918800-125919400	Active TSS	Osteobl	bone
46	chr8:125918800-125919800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:125918800-125919800	Enhancers	Placenta	Placenta
48	chr8:125918800-125919800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:125918800-125920000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr8:125919000-125919200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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