Variant report

Variant	nsv963911
Chromosome Location	chr2:40950223-40971701
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	CEBPB	chr2:40967652-40967923	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:40963366-40963506	Hela-S3	cervix:	n/a	chr2:40963428-40963441 chr2:40963429-40963440
3	CEBPB	chr2:40962030-40962334	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:40963294-40963567	IMR90	lung:	n/a	chr2:40963428-40963441 chr2:40963429-40963440
5	CEBPB	chr2:40963275-40963574	A549	lung:	n/a	chr2:40963428-40963441 chr2:40963429-40963440
6	CEBPB	chr2:40968751-40969049	IMR90	lung:	n/a	n/a
7	CEBPB	chr2:40963293-40963612	HepG2	liver:	n/a	chr2:40963428-40963441 chr2:40963429-40963440
8	CEBPB	chr2:40968734-40969065	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr2:40968759-40969022	MCF-7	breast:	n/a	n/a
10	CEBPB	chr2:40968813-40968994	HepG2	liver:	n/a	n/a
11	CUX1	chr2:40962929-40962959	GM12878	blood:	n/a	n/a
12	CUX1	chr2:40966272-40966410	K562	blood:	n/a	n/a
13	E2F4	chr2:40968627-40968768	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr2:40961921-40962606	SK-N-SH	brain:	n/a	chr2:40961972-40961980 chr2:40962397-40962411
15	EP300	chr2:40960717-40960993	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr2:40967503-40967849	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr2:40967524-40967830	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr2:40961917-40962529	SK-N-SH	brain:	n/a	chr2:40961972-40961980 chr2:40962397-40962411
19	FOS	chr2:40968768-40969032	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr2:40968709-40969022	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr2:40968716-40969029	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr2:40967891-40967933	MCF10A-Er-Src	breast:	n/a	n/a
23	FOSL2	chr2:40962003-40962405	SK-N-SH	brain:	n/a	n/a
24	FOSL2	chr2:40961826-40962478	SK-N-SH	brain:	n/a	n/a
25	FOXA2	chr2:40965805-40965974	HepG2	liver:	n/a	n/a
26	FOXM1	chr2:40961927-40962402	SK-N-SH	brain:	n/a	chr2:40962278-40962286
27	GATA2	chr2:40967578-40967902	SH-SY5Y	brain:	n/a	chr2:40967729-40967738
28	GATA3	chr2:40961803-40962578	SK-N-SH	brain:	n/a	chr2:40962304-40962325
29	GATA3	chr2:40967382-40968046	SK-N-SH	brain:	n/a	chr2:40967729-40967738
30	GATA3	chr2:40953102-40953399	T-47D	breast:	n/a	n/a
31	GATA3	chr2:40965000-40965071	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr2:40968537-40969210	SK-N-SH	brain:	n/a	chr2:40968599-40968610
33	GATA3	chr2:40967366-40968060	SK-N-SH	brain:	n/a	chr2:40967729-40967738
34	GATA3	chr2:40970531-40970706	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr2:40961722-40962606	SK-N-SH	brain:	n/a	chr2:40962304-40962325
36	GATA3	chr2:40967351-40967909	SH-SY5Y	brain:	n/a	chr2:40967729-40967738
37	GATA3	chr2:40968584-40969150	SK-N-SH	brain:	n/a	chr2:40968599-40968610
38	IRF1	chr2:40961940-40962055	K562	blood:	n/a	n/a
39	JUN	chr2:40950474-40950610	HepG2	liver:	n/a	chr2:40950536-40950549 chr2:40950540-40950549
40	JUND	chr2:40950383-40950653	HepG2	liver:	n/a	chr2:40950540-40950549
41	JUND	chr2:40966441-40966618	HepG2	liver:	n/a	chr2:40966572-40966579 chr2:40966572-40966580 chr2:40966571-40966581
42	JUND	chr2:40961843-40962480	SK-N-SH	brain:	n/a	n/a
43	JUND	chr2:40961766-40962423	SK-N-SH	brain:	n/a	n/a
44	MAFF	chr2:40951183-40951190	HepG2	liver:	n/a	n/a
45	MAFK	chr2:40954672-40954879	HepG2	liver:	n/a	chr2:40954799-40954813 chr2:40954800-40954815 chr2:40954800-40954816 chr2:40954800-40954811 chr2:40954801-40954812 chr2:40954800-40954811
46	MAFK	chr2:40954675-40954870	HepG2	liver:	n/a	chr2:40954799-40954813 chr2:40954800-40954815 chr2:40954800-40954816 chr2:40954800-40954811 chr2:40954801-40954812 chr2:40954800-40954811
47	MAFK	chr2:40965884-40965923	HepG2	liver:	n/a	n/a
48	MAZ	chr2:40957886-40957887	HepG2	liver:	n/a	n/a
49	MEF2A	chr2:40961870-40962560	SK-N-SH	brain:	n/a	chr2:40962251-40962272 chr2:40962103-40962124 chr2:40962255-40962266 chr2:40962045-40962054
50	MXI1	chr2:40964290-40964292	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:40960283-40960333	GM12891	blood:	n/a
2	chr2:40960283-40960333	LNCaP	prostate:	n/a
3	chr2:40960283-40960333	NT2-D1	testis:	n/a
4	chr2:40960283-40960333	NH-A	brain:	n/a
5	chr2:40960283-40960333	HRPEpiC	eye:	n/a
6	chr2:40960283-40960333	PANC-1	pancreas:	n/a
7	chr2:40960283-40960333	GM06990	blood:	n/a
8	chr2:40960283-40960333	HCT-116	colon:	n/a
9	chr2:40960283-40960333	U87	brain:	n/a
10	chr2:40960283-40960333	SAEC	small airway:	n/a
11	chr2:40960283-40960333	AG09319	gingival:	n/a
12	chr2:40960283-40960333	GM19239	blood:	n/a
13	chr2:40960283-40960333	NHBE	bronchial:	n/a
14	chr2:40960283-40960333	RPTEC	kidney:	n/a
15	chr2:40960283-40960333	PrEC	prostate:	n/a
16	chr2:40960283-40960333	Jurkat	blood:	n/a
17	chr2:40960283-40960333	Hepatocyte	liver:	n/a
18	chr2:40960283-40960333	ECC-1	luminal epithelium:	n/a
19	chr2:40960283-40960333	T-47D	breast:	n/a
20	chr2:40960283-40960333	GM12878	blood:	n/a
21	chr2:40960283-40960333	GM12892	blood:	n/a
22	chr2:40960283-40960333	AG09309	skin:	n/a
23	chr2:40960283-40960333	AG10803	skin:	n/a
24	chr2:40960283-40960333	HepG2	liver:	n/a
25	chr2:40960283-40960333	HRCEpiC	kidney:	n/a
26	chr2:40960283-40960333	HEK293	kidney:	embryo
27	chr2:40960283-40960333	HRE	kidney:	n/a
28	chr2:40960283-40960333	HL-60	blood:	n/a
29	chr2:40960283-40960333	CMK	blood:	n/a
30	chr2:40960283-40960333	AG04450	lung:	fetal
31	chr2:40960283-40960333	A549	lung:	n/a
32	chr2:40960283-40960333	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:40960283-40960333	AoSMC	blood vessel:	n/a
34	chr2:40960283-40960333	SK-N-SH	brain:	n/a
35	chr2:40960283-40960333	H1-hESC	embryonic stem cell:	embryo
36	chr2:40960283-40960333	ovcar-3	ovarian:	n/a
37	chr2:40960283-40960333	PFSK-1	brain:	n/a
38	chr2:40960283-40960333	Hela-S3	cervix:	n/a
39	chr2:40960283-40960333	ProgFib	skin:	n/a
40	chr2:40960283-40960333	MCF10A-Er-Src	breast:	n/a
41	chr2:40960283-40960333	HUVEC	blood vessel:	n/a
42	chr2:40960283-40960333	Caco-2	colon:	n/a
43	chr2:40960283-40960333	HNPCEpiC	eye:	n/a
44	chr2:40960283-40960333	BE2_C	brain:	n/a
45	chr2:40960283-40960333	HCM	heart:	n/a
46	chr2:40960283-40960333	SK-N-MC	brain:	n/a
47	chr2:40960283-40960333	NHDF-neo	bronchial:	n/a
48	chr2:40960283-40960333	MCF-7	breast:	n/a
49	chr2:40960283-40960333	BJ	skin:	n/a
50	chr2:40960283-40960333	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40963352..40965233-chr2:40973523..40975129,2	K562	blood:
2	chr2:40971002..40972816-chr2:40973492..40975920,2	K562	blood:

Variant related genes	Relation type
ENSG00000233128	TF binding region
ENSG00000233128	CpG island
ENSG00000233128	chromatin interactions

Extended variants
information (count: 881 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569244725	chr2:40950228-40950229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182144042	chr2:40950231-40950232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187096685	chr2:40950260-40950261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555086790	chr2:40950352-40950353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554523266	chr2:40950409-40950410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2192819	chr2:40950519-40950520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539354489	chr2:40950544-40950545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1861306	chr2:40950545-40950546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1861305	chr2:40950582-40950583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541492770	chr2:40950670-40950671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140497680	chr2:40950713-40950714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5830649	chr2:40950714-40950715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75879990	chr2:40950728-40950729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544065454	chr2:40950746-40950747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577476991	chr2:40950747-40950748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556257662	chr2:40950806-40950807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186877084	chr2:40950823-40950824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190994217	chr2:40950848-40950849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535372120	chr2:40950851-40950852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183309043	chr2:40950870-40950871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560153389	chr2:40950965-40950966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553678510	chr2:40950995-40950996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368941613	chr2:40951015-40951016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372922328	chr2:40951068-40951069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553224036	chr2:40951073-40951074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574417747	chr2:40951129-40951130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188346565	chr2:40951144-40951145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541472928	chr2:40951145-40951146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193202809	chr2:40951261-40951262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550881434	chr2:40951279-40951280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563250355	chr2:40951314-40951315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138516220	chr2:40951330-40951331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142011059	chr2:40951356-40951357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200297890	chr2:40951393-40951394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545458911	chr2:40951401-40951402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574767869	chr2:40951405-40951406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566489715	chr2:40951450-40951451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183169739	chr2:40951463-40951464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558462335	chr2:40951473-40951474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570638399	chr2:40951486-40951487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563676531	chr2:40951513-40951514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556054044	chr2:40951521-40951522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13007867	chr2:40951554-40951555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150607785	chr2:40951563-40951564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553803422	chr2:40951579-40951580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528249831	chr2:40951583-40951584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572120605	chr2:40951590-40951591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545809558	chr2:40951605-40951606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565608329	chr2:40951634-40951635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532675068	chr2:40951639-40951640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40947000-40951200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:40947000-40952400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:40949200-40961400	Weak transcription	HSMM	muscle
4	chr2:40949400-40952200	Weak transcription	HMEC	breast
5	chr2:40949400-40973200	Weak transcription	HSMMtube	muscle
6	chr2:40950200-40952400	Weak transcription	Esophagus	oesophagus
7	chr2:40951200-40951400	Enhancers	Colon Smooth Muscle	Colon
8	chr2:40951400-40952400	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:40952200-40953000	Enhancers	HMEC	breast
10	chr2:40952400-40953000	Enhancers	Esophagus	oesophagus
11	chr2:40952400-40953200	Enhancers	Placenta	Placenta
12	chr2:40952400-40953400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:40952400-40953600	Enhancers	Colon Smooth Muscle	Colon
14	chr2:40952400-40953600	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:40953200-40957000	Weak transcription	Placenta	Placenta
16	chr2:40957000-40957600	Enhancers	Placenta	Placenta
17	chr2:40957600-40962800	Weak transcription	Placenta	Placenta
18	chr2:40959800-40961000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:40960000-40960400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:40960000-40960400	Enhancers	HMEC	breast
21	chr2:40960000-40960600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:40960000-40960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:40960000-40961000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:40960000-40961200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:40960200-40960400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:40960200-40961000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:40960200-40961000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:40960400-40961600	Weak transcription	HMEC	breast
29	chr2:40960400-40963800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:40960600-40961000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:40961000-40962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:40961000-40963000	Enhancers	Osteobl	bone
33	chr2:40961000-40964000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:40961400-40963600	Enhancers	HSMM	muscle
35	chr2:40961600-40962000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:40961600-40962400	Enhancers	HMEC	breast
37	chr2:40961600-40962400	Enhancers	NH-A	brain
38	chr2:40961600-40962800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:40961600-40962800	Enhancers	NHDF-Ad	bronchial
40	chr2:40962600-40962800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:40962800-40963200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:40962800-40963200	Enhancers	Placenta	Placenta
43	chr2:40963000-40964200	Weak transcription	Osteobl	bone
44	chr2:40963200-40963600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:40963200-40963600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:40963600-40966800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:40963600-40968800	Weak transcription	HSMM	muscle
48	chr2:40963800-40964600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:40964000-40964200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:40964200-40964400	Flanking Active TSS	Osteobl	bone

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