Variant report

Variant	nsv459563
Chromosome Location	chr2:141803602-141925075
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	ARID3A	chr2:141867325-141867574	HepG2	liver:	n/a	n/a
2	ATF1	chr2:141894777-141895021	K562	blood:	n/a	n/a
3	CEBPB	chr2:141874398-141874541	HepG2	liver:	n/a	chr2:141874494-141874505 chr2:141874413-141874425
4	CEBPB	chr2:141867275-141867610	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:141898974-141899241	IMR90	lung:	n/a	chr2:141899122-141899133
6	CEBPB	chr2:141899009-141899309	HepG2	liver:	n/a	chr2:141899122-141899133
7	CEBPB	chr2:141851230-141851505	IMR90	lung:	n/a	chr2:141851339-141851350
8	CEBPB	chr2:141851303-141851461	A549	lung:	n/a	chr2:141851339-141851350
9	CEBPB	chr2:141833328-141833692	HepG2	liver:	n/a	chr2:141833512-141833521 chr2:141833511-141833522 chr2:141833510-141833523 chr2:141833512-141833521 chr2:141833512-141833521 chr2:141833510-141833521 chr2:141833512-141833521
10	CEBPB	chr2:141851225-141851396	K562	blood:	n/a	chr2:141851339-141851350
11	CEBPB	chr2:141890457-141890532	K562	blood:	n/a	chr2:141890493-141890504
12	CEBPB	chr2:141891176-141891426	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:141851293-141851482	Hela-S3	cervix:	n/a	chr2:141851339-141851350
14	CEBPB	chr2:141867253-141867671	MCF-7	breast:	n/a	n/a
15	CEBPB	chr2:141851246-141851503	HepG2	liver:	n/a	chr2:141851339-141851350
16	CEBPB	chr2:141833331-141833694	IMR90	lung:	n/a	chr2:141833512-141833521 chr2:141833511-141833522 chr2:141833510-141833523 chr2:141833512-141833521 chr2:141833512-141833521 chr2:141833510-141833521 chr2:141833512-141833521
17	CEBPB	chr2:141833343-141833674	A549	lung:	n/a	chr2:141833512-141833521 chr2:141833511-141833522 chr2:141833510-141833523 chr2:141833512-141833521 chr2:141833512-141833521 chr2:141833510-141833521 chr2:141833512-141833521
18	CEBPB	chr2:141851177-141851503	H1-hESC	embryonic stem cell:	n/a	chr2:141851339-141851350
19	CTCF	chr2:141867260-141867410	HEK293	kidney:	n/a	n/a
20	CTCF	chr2:141867220-141867370	GM12864	blood:	n/a	n/a
21	CTCF	chr2:141867300-141867450	HepG2	liver:	n/a	n/a
22	CTCF	chr2:141867340-141867490	AG04450	lung:	n/a	n/a
23	CTCF	chr2:141867343-141867382	ProgFib	skin:	n/a	n/a
24	CTCF	chr2:141867300-141867450	A549	lung:	n/a	n/a
25	CTCF	chr2:141867320-141867470	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr2:141825208-141825253	K562	blood:	n/a	n/a
27	CTCF	chr2:141867300-141867450	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr2:141867280-141867430	HPF	lung:	n/a	n/a
29	CTCF	chr2:141917521-141917570	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr2:141867040-141867190	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr2:141867300-141867450	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr2:141867280-141867430	AG04450	lung:	n/a	n/a
33	CTCF	chr2:141867260-141867410	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr2:141867240-141867390	BJ	skin:	n/a	n/a
35	CTCF	chr2:141867320-141867470	BE2_C	brain:	n/a	n/a
36	CTCF	chr2:141867180-141867524	GM12878	blood:	n/a	n/a
37	CTCF	chr2:141867297-141867397	GM10248	blood:	n/a	n/a
38	CTCF	chr2:141867380-141867530	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr2:141867291-141867434	HepG2	liver:	n/a	n/a
40	CTCF	chr2:141867240-141867390	HCT-116	colon:	n/a	n/a
41	CTCF	chr2:141867320-141867470	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:141854540-141854690	GM06990	blood:	n/a	n/a
43	CTCF	chr2:141867280-141867430	NB4	blood:	n/a	n/a
44	CTCF	chr2:141867320-141867470	NHEK	skin:	n/a	n/a
45	CTCF	chr2:141867115-141867594	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:141867320-141867470	AG09309	skin:	n/a	n/a
47	CTCF	chr2:141867249-141867455	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr2:141867280-141867430	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr2:141867300-141867450	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr2:141867257-141867481	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:141868029-141868079	GM19239	blood:	n/a
2	chr2:141868029-141868079	GM19239	blood:	n/a
3	chr2:141821182-141821232	AG09309	skin:	n/a
4	chr2:141868029-141868079	CMK	blood:	n/a
5	chr2:141821182-141821232	U87	brain:	n/a
6	chr2:141868029-141868079	GM12878	blood:	n/a
7	chr2:141821182-141821232	AG09319	gingival:	n/a
8	chr2:141821182-141821232	Caco-2	colon:	n/a
9	chr2:141821182-141821232	GM12878	blood:	n/a
10	chr2:141821182-141821232	NT2-D1	testis:	n/a
11	chr2:141821182-141821232	Hepatocyte	liver:	n/a
12	chr2:141821182-141821232	HMEC	breast:	n/a
13	chr2:141868029-141868079	HAEpiC	amniotic membrane:	n/a
14	chr2:141868029-141868079	BJ	skin:	n/a
15	chr2:141821182-141821232	HCM	heart:	n/a
16	chr2:141821182-141821232	HRPEpiC	eye:	n/a
17	chr2:141868029-141868079	AG10803	skin:	n/a
18	chr2:141868029-141868079	HUVEC	blood vessel:	n/a
19	chr2:141821182-141821232	NHDF-neo	bronchial:	n/a
20	chr2:141821182-141821232	GM19239	blood:	n/a
21	chr2:141868029-141868079	PrEC	prostate:	n/a
22	chr2:141868029-141868079	IMR90	lung:	fetal
23	chr2:141821182-141821232	SK-N-SH	brain:	n/a
24	chr2:141868029-141868079	GM12892	blood:	n/a
25	chr2:141868029-141868079	HEEpiC	esophagus:	n/a
26	chr2:141821182-141821232	HEK293	kidney:	embryo
27	chr2:141821182-141821232	HRE	kidney:	n/a
28	chr2:141868029-141868079	RPTEC	kidney:	n/a
29	chr2:141821182-141821232	PANC-1	pancreas:	n/a
30	chr2:141868029-141868079	MCF-7	breast:	n/a
31	chr2:141868029-141868079	AG09319	gingival:	n/a
32	chr2:141821182-141821232	HUVEC	blood vessel:	n/a
33	chr2:141821182-141821232	IMR90	lung:	fetal
34	chr2:141868029-141868079	NH-A	brain:	n/a
35	chr2:141821182-141821232	HEEpiC	esophagus:	n/a
36	chr2:141821182-141821232	GM12891	blood:	n/a
37	chr2:141868029-141868079	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:141821182-141821232	PFSK-1	brain:	n/a
39	chr2:141821182-141821232	RPTEC	kidney:	n/a
40	chr2:141868029-141868079	HRE	kidney:	n/a
41	chr2:141868029-141868079	GM12891	blood:	n/a
42	chr2:141868029-141868079	ovcar-3	ovarian:	n/a
43	chr2:141821182-141821232	AG04450	lung:	fetal
44	chr2:141868029-141868079	SKMC	muscle:	n/a
45	chr2:141868029-141868079	BE2_C	brain:	n/a
46	chr2:141821182-141821232	BJ	skin:	n/a
47	chr2:141821182-141821232	GM12892	blood:	n/a
48	chr2:141821182-141821232	NHBE	bronchial:	n/a
49	chr2:141821182-141821232	HRCEpiC	kidney:	n/a
50	chr2:141868029-141868079	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr2:141835054..141836662-chr2:141842749..141844903,2	MCF-7	breast:
2	chr2:141835054..141836662-chr2:141842749..141844903,2	MCF-7	breast:
3	chr2:141913575..141915703-chr2:141918987..141921104,2	MCF-7	breast:
4	chr2:141785789..141788273-chr2:141812722..141815557,2	MCF-7	breast:
5	chr2:141913575..141915703-chr2:141918987..141921104,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-904P	TF binding region
RNU6-904P	CpG island

Extended variants
information (count: 2088 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2088 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7594687	chr2:141803602-141803603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544239988	chr2:141803632-141803633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565866561	chr2:141803636-141803637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148284544	chr2:141803654-141803655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548463164	chr2:141803668-141803669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116270701	chr2:141803687-141803688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35737048	chr2:141803749-141803750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537363532	chr2:141803757-141803758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73962113	chr2:141803796-141803797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115378076	chr2:141803797-141803798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539110921	chr2:141803813-141803814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35383608	chr2:141803875-141803876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552681943	chr2:141803938-141803939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183239487	chr2:141804001-141804002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532435120	chr2:141804082-141804083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533265991	chr2:141804122-141804123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373071261	chr2:141804123-141804124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187925618	chr2:141804124-141804125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150760534	chr2:141804131-141804132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138035518	chr2:141804142-141804143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563643743	chr2:141804176-141804177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149580184	chr2:141804177-141804178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563926200	chr2:141804181-141804182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552682804	chr2:141804182-141804183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114632748	chr2:141804184-141804185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528279941	chr2:141804198-141804199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77657233	chr2:141804216-141804217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568252230	chr2:141804217-141804218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536921011	chr2:141804241-141804242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550868834	chr2:141804283-141804284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570095820	chr2:141804312-141804313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115359758	chr2:141804323-141804324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11696012	chr2:141804368-141804369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532575026	chr2:141804369-141804370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535472064	chr2:141804374-141804375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535545585	chr2:141804381-141804382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554816899	chr2:141804383-141804384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11696042	chr2:141804397-141804398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543721502	chr2:141804407-141804408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564000872	chr2:141804414-141804415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530722667	chr2:141804464-141804465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192672856	chr2:141804479-141804480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140014351	chr2:141804496-141804497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559795319	chr2:141804533-141804534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568962042	chr2:141804559-141804560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528533797	chr2:141804601-141804602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57737462	chr2:141804609-141804610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369475692	chr2:141804617-141804618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368820429	chr2:141804624-141804625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200838849	chr2:141804627-141804628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141773600-141806800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:141805200-141805400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:141805400-141806200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:141806200-141806800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:141806400-141806800	Enhancers	Brain Germinal Matrix	brain
6	chr2:141806400-141807200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr2:141806400-141807400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:141806600-141806800	Active TSS	Brain Substantia Nigra	brain
9	chr2:141806600-141807000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:141806600-141807000	Active TSS	Brain Anterior Caudate	brain
11	chr2:141806600-141807000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:141806800-141807000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:141806800-141807000	Active TSS	Brain Angular Gyrus	brain
14	chr2:141806800-141807000	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr2:141806800-141807000	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr2:141806800-141807000	Enhancers	Fetal Brain Female	brain
17	chr2:141807000-141807200	Active TSS	Brain Germinal Matrix	brain
18	chr2:141807000-141807400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:141807400-141818600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:141807400-141819200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:141811200-141811800	Enhancers	Fetal Heart	heart
22	chr2:141811800-141812200	Weak transcription	Fetal Heart	heart
23	chr2:141812200-141813000	Enhancers	Fetal Heart	heart
24	chr2:141812400-141814200	Enhancers	HUVEC	blood vessel
25	chr2:141812600-141813000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:141812600-141813000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:141812600-141813600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:141812800-141813600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:141818600-141821800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:141819200-141819400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:141819200-141820400	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:141819200-141820400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:141819400-141819800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:141819400-141819800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:141819400-141820600	Enhancers	Brain Hippocampus Middle	brain
36	chr2:141819400-141820600	Enhancers	Fetal Heart	heart
37	chr2:141819600-141820400	Enhancers	Brain Substantia Nigra	brain
38	chr2:141819600-141820600	Enhancers	Brain Angular Gyrus	brain
39	chr2:141819800-141820000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:141820000-141820200	Enhancers	Brain Anterior Caudate	brain
41	chr2:141820000-141821000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:141820000-141822400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:141820400-141825000	Weak transcription	Brain Substantia Nigra	brain
44	chr2:141820600-141821000	Weak transcription	Brain Angular Gyrus	brain
45	chr2:141821000-141821400	Enhancers	Brain Angular Gyrus	brain
46	chr2:141821000-141821600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:141821000-141821800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:141821000-141822000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:141821200-141821600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:141821200-141821600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links