Variant report

Variant	nsv979905
Chromosome Location	chr3:178932769-178938931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr3:178933277-178933584	K562	blood:	n/a	n/a
2	CEBPB	chr3:178936577-178937153	IMR90	lung:	n/a	chr3:178936655-178936668
3	CEBPB	chr3:178936909-178937138	HepG2	liver:	n/a	n/a
4	CEBPB	chr3:178933223-178933758	Hela-S3	cervix:	n/a	chr3:178933429-178933440
5	CEBPB	chr3:178936575-178937116	K562	blood:	n/a	chr3:178936655-178936668
6	CEBPB	chr3:178933224-178933585	HepG2	liver:	n/a	chr3:178933429-178933440
7	CEBPB	chr3:178933340-178933580	K562	blood:	n/a	chr3:178933429-178933440
8	CEBPB	chr3:178933253-178933523	K562	blood:	n/a	chr3:178933429-178933440
9	CEBPB	chr3:178936763-178937119	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr3:178936924-178936992	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr3:178933205-178933620	K562	blood:	n/a	chr3:178933429-178933440
12	CEBPB	chr3:178933329-178933585	IMR90	lung:	n/a	chr3:178933429-178933440
13	CEBPB	chr3:178933378-178933567	A549	lung:	n/a	chr3:178933429-178933440
14	CTCF	chr3:178932872-178932954	GM13977	blood:	n/a	n/a
15	CTCF	chr3:178932845-178932919	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chr3:178932820-178932970	HMF	breast:	n/a	n/a
17	CTCF	chr3:178932839-178932983	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:178932720-178932870	HMEC	breast:	n/a	n/a
19	CTCF	chr3:178932700-178932850	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr3:178932940-178933090	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr3:178932847-178932981	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr3:178932867-178932963	GM12878	blood:	n/a	n/a
23	CTCF	chr3:178932860-178933010	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:178932840-178932990	GM12873	blood:	n/a	n/a
25	CTCF	chr3:178933822-178933851	GM10248	blood:	n/a	n/a
26	CTCF	chr3:178932700-178932850	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr3:178932849-178932953	K562	blood:	n/a	n/a
28	CTCF	chr3:178932720-178932870	HAc	cerebellar:	n/a	n/a
29	CTCF	chr3:178932854-178932940	IMR90	lung:	n/a	n/a
30	CTCF	chr3:178932879-178932991	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr3:178932826-178932989	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:178932820-178932970	GM12865	blood:	n/a	n/a
33	CTCF	chr3:178932841-178932976	K562	blood:	n/a	n/a
34	CTCF	chr3:178932720-178932870	MCF-7	breast:	n/a	n/a
35	CTCF	chr3:178932820-178932970	AG09319	gingival:	n/a	n/a
36	CTCF	chr3:178932800-178932950	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr3:178932920-178933070	HCFaa	heart:	n/a	n/a
38	CTCF	chr3:178932840-178932990	HMF	breast:	n/a	n/a
39	CUX1	chr3:178932808-178933005	K562	blood:	n/a	n/a
40	EP300	chr3:178933372-178933576	Hela-S3	cervix:	n/a	n/a
41	EP300	chr3:178933346-178933557	K562	blood:	n/a	n/a
42	FOS	chr3:178936506-178936798	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr3:178936536-178937019	MCF10A-Er-Src	breast:	n/a	chr3:178936903-178936915
44	FOS	chr3:178933336-178933570	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr3:178936506-178936811	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr3:178936535-178936810	MCF10A-Er-Src	breast:	n/a	n/a
47	JUN	chr3:178933367-178933533	HepG2	liver:	n/a	chr3:178933389-178933402
48	JUN	chr3:178937541-178937722	K562	blood:	n/a	n/a
49	JUND	chr3:178933353-178933567	K562	blood:	n/a	n/a
50	JUND	chr3:178932817-178933001	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:178896594..178898172-chr3:178937850..178940381,2	MCF-7	breast:
2	chr3:178865795..178867355-chr3:178932431..178934661,2	MCF-7	breast:

Variant related genes	Relation type
PIK3CA	TF binding region
ENSG00000121879	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190909329	chr3:178932805-178932806	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs375474885	chr3:178932869-178932870	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182218168	chr3:178932963-178932964	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187208418	chr3:178932986-178932987	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190543886	chr3:178933038-178933039	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs13082701	chr3:178933071-178933072	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183045381	chr3:178933079-178933080	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549883825	chr3:178933087-178933088	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187288410	chr3:178933096-178933097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534053722	chr3:178933124-178933125	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13083014	chr3:178933146-178933147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538432484	chr3:178933151-178933152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs146168058	chr3:178933182-178933183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10936993	chr3:178933216-178933217	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10936994	chr3:178933278-178933279	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554482745	chr3:178933339-178933340	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577145737	chr3:178933340-178933341	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148404717	chr3:178933344-178933345	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2459693	chr3:178933363-178933364	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113140208	chr3:178933389-178933390	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113757110	chr3:178933400-178933401	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576135098	chr3:178933415-178933416	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541574217	chr3:178933450-178933451	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376409167	chr3:178933484-178933485	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561752722	chr3:178933559-178933560	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs540917172	chr3:178933563-178933564	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs150917311	chr3:178933626-178933627	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373691711	chr3:178933632-178933633	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540954191	chr3:178933677-178933678	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564436312	chr3:178933691-178933692	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532956342	chr3:178933719-178933720	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139346633	chr3:178933743-178933744	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532696712	chr3:178933840-178933841	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529002160	chr3:178933902-178933903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370776466	chr3:178933906-178933907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548735969	chr3:178933951-178933952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568544669	chr3:178933962-178933963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534431763	chr3:178934015-178934016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140787254	chr3:178934066-178934067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372788503	chr3:178934068-178934069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370204611	chr3:178934133-178934134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372732447	chr3:178934160-178934161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113482475	chr3:178934177-178934178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199636066	chr3:178934179-178934180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539405852	chr3:178934188-178934189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556138370	chr3:178934213-178934214	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531614110	chr3:178934256-178934257	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576098393	chr3:178934329-178934330	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541933019	chr3:178934338-178934339	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555866238	chr3:178934343-178934344	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Human papillomavirus	17975027	CNVD
Adenocarcinoma	18757405	CNVD
Lung cancer	18757405	CNVD
Squamous cell cancer	18757405	CNVD
small cell lung cancer	18757405	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178899200-178951800	Weak transcription	K562	blood
2	chr3:178906400-178962400	Weak transcription	HepG2	liver
3	chr3:178909000-178947000	Weak transcription	Ovary	ovary
4	chr3:178911200-178953400	Weak transcription	Gastric	stomach
5	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
6	chr3:178912600-178947800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:178913000-178948200	Weak transcription	Psoas Muscle	Psoas
8	chr3:178913200-178945200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:178913200-178947000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:178913200-178947000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:178913800-178954000	Weak transcription	Fetal Heart	heart
12	chr3:178913800-178969000	Weak transcription	Small Intestine	intestine
13	chr3:178914600-178945200	Weak transcription	HMEC	breast
14	chr3:178914800-178933400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:178914800-178941400	Weak transcription	GM12878-XiMat	blood
16	chr3:178914800-178942800	Weak transcription	NH-A	brain
17	chr3:178914800-178948000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:178915400-178946000	Weak transcription	Stomach Mucosa	stomach
20	chr3:178915400-178947000	Weak transcription	NHDF-Ad	bronchial
21	chr3:178915600-178947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:178915800-178965200	Weak transcription	Hela-S3	cervix
23	chr3:178917400-178948400	Weak transcription	Esophagus	oesophagus
24	chr3:178917600-178953800	Weak transcription	Colonic Mucosa	Colon
25	chr3:178918600-178932800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:178919800-178947000	Weak transcription	NHLF	lung
27	chr3:178920000-178947200	Weak transcription	Brain Angular Gyrus	brain
28	chr3:178920200-178947800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:178920200-178948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:178920200-178952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:178920200-178968400	Weak transcription	Spleen	Spleen
32	chr3:178921200-178948800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:178922200-178941400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:178922200-178945600	Weak transcription	HUVEC	blood vessel
35	chr3:178922600-178946200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr3:178923800-178933800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr3:178924200-178948200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:178925400-178932800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:178925600-178932800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:178925800-178947600	Weak transcription	Aorta	Aorta
41	chr3:178925800-178951600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:178925800-178968200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:178925800-178968600	Weak transcription	Pancreas	Pancrea
44	chr3:178926000-178933600	Weak transcription	NHEK	skin
45	chr3:178926400-178947600	Weak transcription	Brain Germinal Matrix	brain
46	chr3:178927600-178932800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr3:178927800-178933000	Strong transcription	Liver	Liver
48	chr3:178928000-178932800	Strong transcription	Fetal Intestine Large	intestine
49	chr3:178928400-178943200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:178928600-178939000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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