Variant report

Variant	nsv517081
Chromosome Location	chr8:119872439-119886889
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:119874098..119875081-chr8:119890625..119891353,4	MCF-7	breast:
2	chr8:119886218..119887963-chr8:119888268..119891082,2	MCF-7	breast:
3	chr8:119858424..119862696-chr8:119871744..119874668,4	MCF-7	breast:
4	chr8:119870985..119873020-chr8:119885150..119887019,2	MCF-7	breast:
5	chr8:119872807..119875154-chr8:119954620..119956475,2	MCF-7	breast:
6	chr8:119872555..119876115-chr8:119889180..119893027,6	MCF-7	breast:
7	chr8:119873726..119875943-chr8:119888839..119890975,3	MCF-7	breast:
8	chr8:119873937..119876424-chr8:119878848..119881017,4	MCF-7	breast:
9	chr8:119862765..119865720-chr8:119873714..119876023,2	MCF-7	breast:
10	chr8:119870985..119873020-chr8:119885150..119887019,2	MCF-7	breast:
11	chr8:119878339..119879867-chr8:119964065..119966152,2	MCF-7	breast:
12	chr8:119884867..119886696-chr8:120073513..120075509,2	MCF-7	breast:
13	chr8:119873937..119876424-chr8:119878848..119881017,4	MCF-7	breast:
14	chr8:119875843..119876422-chr8:119890324..119891255,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164761	chromatin interactions

Extended variants
information (count: 488 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:488 , 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	rs2035979	chr8:119872439-119872440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75529962	chr8:119872499-119872500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562521238	chr8:119872605-119872606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369472159	chr8:119872606-119872607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2035978	chr8:119872630-119872631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74481411	chr8:119872633-119872634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527524084	chr8:119872655-119872656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547113661	chr8:119872689-119872690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80008848	chr8:119872718-119872719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535959456	chr8:119872722-119872723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140162854	chr8:119872739-119872740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569237409	chr8:119872770-119872771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565857824	chr8:119872781-119872782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557839380	chr8:119872782-119872783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186838315	chr8:119872790-119872791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573096944	chr8:119872805-119872806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534149243	chr8:119872866-119872867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374265102	chr8:119872948-119872949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3103995	chr8:119872951-119872952	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs36052411	chr8:119872977-119872978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1353171	chr8:119872998-119872999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs574893679	chr8:119873005-119873006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554119365	chr8:119873056-119873057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560625279	chr8:119873070-119873071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544318316	chr8:119873078-119873079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1908224	chr8:119873109-119873110	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190025534	chr8:119873155-119873156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182207820	chr8:119873167-119873168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187409155	chr8:119873175-119873176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16891598	chr8:119873213-119873214	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144043644	chr8:119873261-119873262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1389544	chr8:119873271-119873272	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529322756	chr8:119873293-119873294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542903570	chr8:119873296-119873297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551062619	chr8:119873310-119873311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569146655	chr8:119873420-119873421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146410520	chr8:119873423-119873424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551633362	chr8:119873448-119873449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566856106	chr8:119873482-119873483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556448683	chr8:119873485-119873486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534241071	chr8:119873526-119873527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555514428	chr8:119873527-119873528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567852990	chr8:119873550-119873551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537504176	chr8:119873557-119873558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529551272	chr8:119873565-119873566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577564121	chr8:119873566-119873567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189674675	chr8:119873586-119873587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553817895	chr8:119873627-119873628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576311289	chr8:119873631-119873632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549402446	chr8:119873649-119873650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119870200-119873400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:119872200-119873000	Enhancers	GM12878-XiMat	blood
3	chr8:119872800-119873400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:119872800-119874200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:119872800-119874400	Enhancers	Fetal Lung	lung
6	chr8:119872800-119875200	Enhancers	Fetal Intestine Large	intestine
7	chr8:119873000-119873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:119873000-119873400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:119873000-119873800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:119873000-119874000	Weak transcription	GM12878-XiMat	blood
11	chr8:119873200-119873400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:119873200-119874000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:119873200-119874000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:119873200-119874000	Enhancers	Brain Germinal Matrix	brain
15	chr8:119873200-119874400	Enhancers	Fetal Kidney	kidney
16	chr8:119873200-119875000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:119873400-119873800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:119873400-119874000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr8:119873400-119874200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:119873400-119874200	Enhancers	Fetal Intestine Small	intestine
21	chr8:119873400-119874400	Enhancers	Aorta	Aorta
22	chr8:119873400-119875200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:119873400-119877600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:119873400-119877600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:119873600-119874400	Enhancers	Stomach Mucosa	stomach
26	chr8:119873600-119875200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:119873800-119874000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:119873800-119877600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:119874000-119874600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:119874000-119875400	Enhancers	GM12878-XiMat	blood
31	chr8:119874000-119876200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:119874000-119876400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:119874000-119877600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:119874000-119878000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:119874000-119878200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:119874000-119878200	Weak transcription	Brain Germinal Matrix	brain
37	chr8:119874200-119874800	Weak transcription	Fetal Intestine Small	intestine
38	chr8:119874200-119876000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:119874200-119876200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:119874400-119877600	Weak transcription	Fetal Kidney	kidney
41	chr8:119874400-119878000	Weak transcription	Fetal Lung	lung
42	chr8:119874400-119878000	Weak transcription	Stomach Mucosa	stomach
43	chr8:119874400-119880400	Weak transcription	Aorta	Aorta
44	chr8:119874600-119875000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:119874800-119875200	Enhancers	Fetal Intestine Small	intestine
46	chr8:119874800-119876000	Enhancers	Liver	Liver
47	chr8:119875000-119875600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:119875000-119876200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:119875200-119877400	Weak transcription	Fetal Intestine Large	intestine
50	chr8:119875200-119878000	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links