Variant report

Variant	nsv968553
Chromosome Location	chr8:130416069-130423976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:130423697-130423961	ECC-1	luminal epithelium:	n/a	chr8:130423869-130423881
2	FOXA1	chr8:130423643-130424079	ECC-1	luminal epithelium:	n/a	chr8:130423869-130423881
3	JUN	chr8:130423346-130423351	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr8:130417966-130418037	MCF-7	breast:	n/a	n/a
5	POLR2A	chr8:130420582-130420586	K562	blood:	n/a	n/a
6	POLR2A	chr8:130418398-130420223	K562	blood:	n/a	n/a
7	POLR2A	chr8:130419112-130419630	K562	blood:	n/a	n/a
8	POLR2A	chr8:130419637-130419866	K562	blood:	n/a	n/a
9	POLR2A	chr8:130417046-130421732	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr8:130418548-130418570	K562	blood:	n/a	n/a
11	POLR2A	chr8:130420641-130421010	K562	blood:	n/a	n/a
12	POLR2A	chr8:130422642-130422778	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr8:130423470-130423899	K562	blood:	n/a	n/a
14	POLR2A	chr8:130418572-130418585	K562	blood:	n/a	n/a
15	POLR2A	chr8:130418592-130418705	K562	blood:	n/a	n/a
16	POLR2A	chr8:130420444-130420629	K562	blood:	n/a	n/a
17	POLR2A	chr8:130415411-130416312	K562	blood:	n/a	n/a
18	POLR2A	chr8:130420599-130420631	K562	blood:	n/a	n/a
19	POLR2A	chr8:130422037-130422164	K562	blood:	n/a	n/a
20	POLR2A	chr8:130416536-130418177	K562	blood:	n/a	n/a
21	POLR2A	chr8:130420380-130420811	K562	blood:	n/a	n/a
22	POLR2A	chr8:130422116-130422213	K562	blood:	n/a	n/a
23	POLR2A	chr8:130419224-130419796	K562	blood:	n/a	n/a
24	POLR2A	chr8:130422469-130422520	K562	blood:	n/a	n/a
25	POLR2A	chr8:130419033-130419152	K562	blood:	n/a	n/a
26	POLR2A	chr8:130421267-130421354	K562	blood:	n/a	n/a
27	POLR2A	chr8:130410908-130416962	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr8:130421984-130431837	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr8:130415836-130418547	K562	blood:	n/a	n/a
30	SPI1	chr8:130423551-130423720	GM12878	blood:	n/a	n/a
31	SPI1	chr8:130423442-130423799	GM12891	blood:	n/a	n/a
32	SPI1	chr8:130423446-130423761	GM12891	blood:	n/a	n/a
33	SPI1	chr8:130423315-130423990	GM12878	blood:	n/a	n/a
34	SPI1	chr8:130423443-130423785	GM12878	blood:	n/a	n/a
35	ZNF384	chr8:130416071-130416268	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130419285..130421126-chr8:130422291..130424693,2	K562	blood:
2	chr8:130406605..130408222-chr8:130415923..130417816,2	K562	blood:
3	chr8:130409293..130412110-chr8:130418175..130420281,2	K562	blood:
4	chr8:130419285..130421126-chr8:130422291..130424693,2	K562	blood:
5	chr8:130422480..130424858-chr8:130426519..130428589,2	K562	blood:
6	chr8:130419752..130421541-chr8:130425916..130427776,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253926	TF binding region
ENSG00000253926	chromatin interactions

Extended variants
information (count: 345 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565431775	chr8:130416114-130416115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182430882	chr8:130416171-130416172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551221499	chr8:130416192-130416193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569236659	chr8:130416200-130416201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536241333	chr8:130416202-130416203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548217158	chr8:130416216-130416217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114903189	chr8:130416222-130416223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55828122	chr8:130416250-130416251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377614487	chr8:130416256-130416257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111275184	chr8:130416282-130416283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186771141	chr8:130416312-130416313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558803346	chr8:130416325-130416326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577729925	chr8:130416338-130416339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1963237	chr8:130416354-130416355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558774455	chr8:130416374-130416375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111312033	chr8:130416398-130416399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538494619	chr8:130416399-130416400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544868374	chr8:130416429-130416430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73391620	chr8:130416472-130416473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191584643	chr8:130416500-130416501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542637229	chr8:130416501-130416502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564570907	chr8:130416515-130416516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562136877	chr8:130416516-130416517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71570432	chr8:130416523-130416524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529534292	chr8:130416538-130416539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572881034	chr8:130416553-130416554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540295628	chr8:130416560-130416561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2016932	chr8:130416567-130416568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532717463	chr8:130416606-130416607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184146600	chr8:130416656-130416657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562831243	chr8:130416671-130416672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539963518	chr8:130416708-130416709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531522987	chr8:130416804-130416805	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548474031	chr8:130416806-130416807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151234053	chr8:130416848-130416849	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527697991	chr8:130416882-130416883	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73712633	chr8:130416896-130416897	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570886827	chr8:130416911-130416912	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538826957	chr8:130416927-130416928	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112353006	chr8:130416956-130416957	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112480066	chr8:130416958-130416959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192817711	chr8:130416978-130416979	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554926495	chr8:130416981-130416982	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572842312	chr8:130416985-130416986	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185286126	chr8:130417057-130417058	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558616847	chr8:130417073-130417074	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150351609	chr8:130417074-130417075	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10505537	chr8:130417096-130417097	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544304234	chr8:130417102-130417103	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2579862	chr8:130417178-130417179	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:151)

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
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
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
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
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130412200-130416800	Weak transcription	Dnd41	blood
3	chr8:130414800-130416800	Weak transcription	K562	blood
4	chr8:130416800-130418800	ZNF genes & repeats	Dnd41	blood
5	chr8:130416800-130426600	Strong transcription	K562	blood
6	chr8:130418800-130424000	Weak transcription	Dnd41	blood
7	chr8:130419200-130419600	Enhancers	Fetal Stomach	stomach
8	chr8:130419200-130420000	Enhancers	Brain Hippocampus Middle	brain
9	chr8:130419200-130423400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:130419400-130419800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:130419400-130419800	Enhancers	Brain Substantia Nigra	brain
12	chr8:130419400-130419800	Enhancers	Fetal Muscle Leg	muscle
13	chr8:130419400-130419800	Enhancers	Fetal Thymus	thymus
14	chr8:130419400-130419800	Enhancers	Thymus	Thymus
15	chr8:130419400-130420200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:130419600-130420200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:130419600-130420200	Enhancers	Brain Germinal Matrix	brain
18	chr8:130419600-130423600	Weak transcription	Fetal Stomach	stomach
19	chr8:130419800-130423200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:130419800-130423600	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:130419800-130425800	Weak transcription	Fetal Thymus	thymus
22	chr8:130419800-130427000	Weak transcription	Thymus	Thymus
23	chr8:130420000-130421600	Enhancers	Fetal Heart	heart
24	chr8:130420000-130424000	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:130421600-130423600	Weak transcription	Fetal Heart	heart
26	chr8:130422400-130422600	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:130422400-130422800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:130422400-130423400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:130422600-130423200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:130423000-130423800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:130423200-130423800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:130423200-130424000	Enhancers	Primary B cells from peripheral blood	blood
33	chr8:130423400-130423600	Enhancers	Fetal Lung	lung
34	chr8:130423400-130423600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr8:130423400-130424200	Enhancers	GM12878-XiMat	blood
36	chr8:130423400-130424400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:130423600-130423800	Flanking Active TSS	Fetal Lung	lung
38	chr8:130423600-130424000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr8:130423600-130424400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:130423600-130424400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:130423600-130424400	Enhancers	NH-A	brain
42	chr8:130423600-130424600	Enhancers	Fetal Muscle Leg	muscle
43	chr8:130423600-130425000	Enhancers	Fetal Heart	heart
44	chr8:130423600-130425000	Enhancers	Fetal Stomach	stomach
45	chr8:130423800-130424000	Enhancers	Fetal Lung	lung
46	chr8:130423800-130424200	Enhancers	HSMMtube	muscle
47	chr8:130423800-130424400	Enhancers	NHLF	lung

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