Variant report

Variant	nsv459496
Chromosome Location	chr2:141111125-141151319
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	BACH1	chr2:141148517-141148570	K562	blood:	n/a	n/a
2	BACH1	chr2:141148447-141148687	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:141114757-141114966	H1-hESC	embryonic stem cell:	n/a	chr2:141114829-141114840 chr2:141114829-141114840 chr2:141114903-141114914
4	CEBPB	chr2:141134895-141135107	A549	lung:	n/a	n/a
5	CEBPB	chr2:141150461-141150710	Hela-S3	cervix:	n/a	chr2:141150554-141150565
6	CEBPB	chr2:141150483-141150639	HepG2	liver:	n/a	chr2:141150554-141150565
7	CEBPB	chr2:141134884-141135167	MCF-7	breast:	n/a	n/a
8	CEBPB	chr2:141134832-141135160	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr2:141114744-141115072	HepG2	liver:	n/a	chr2:141114829-141114840 chr2:141114829-141114840 chr2:141114903-141114914
10	CEBPB	chr2:141134824-141135153	IMR90	lung:	n/a	n/a
11	CEBPB	chr2:141134808-141135165	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:141134909-141135165	ECC-1	luminal epithelium:	n/a	n/a
13	CEBPB	chr2:141114761-141114984	A549	lung:	n/a	chr2:141114829-141114840 chr2:141114829-141114840 chr2:141114903-141114914
14	CEBPB	chr2:141150489-141150706	A549	lung:	n/a	chr2:141150554-141150565
15	CEBPB	chr2:141134832-141135143	A549	lung:	n/a	n/a
16	CEBPB	chr2:141134785-141135170	A549	lung:	n/a	n/a
17	CEBPB	chr2:141134769-141135184	MCF-7	breast:	n/a	n/a
18	CEBPB	chr2:141113508-141113853	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr2:141130146-141130321	HepG2	liver:	n/a	chr2:141130212-141130223
20	CEBPB	chr2:141143335-141143535	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:141134884-141135048	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:141150434-141150724	HepG2	liver:	n/a	chr2:141150554-141150565
23	CEBPB	chr2:141150438-141150722	HepG2	liver:	n/a	chr2:141150554-141150565
24	CEBPB	chr2:141111077-141111884	Hela-S3	cervix:	n/a	chr2:141111480-141111493
25	CEBPB	chr2:141134819-141135043	K562	blood:	n/a	n/a
26	CEBPB	chr2:141116668-141116974	HepG2	liver:	n/a	chr2:141116822-141116833 chr2:141116821-141116834 chr2:141116821-141116834
27	CEBPB	chr2:141134837-141135157	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr2:141150440-141150724	HepG2	liver:	n/a	chr2:141150554-141150565
29	CEBPD	chr2:141150463-141150634	HepG2	liver:	n/a	n/a
30	CTCF	chr2:141141180-141141330	HPF	lung:	n/a	n/a
31	CTCF	chr2:141136997-141137048	Medullo	brain:	n/a	n/a
32	CTCF	chr2:141121460-141121610	HFF	foreskin:	n/a	n/a
33	E2F4	chr2:141111186-141111511	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr2:141150314-141150483	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr2:141123855-141124029	MCF10A-Er-Src	breast:	n/a	n/a
36	EP300	chr2:141116680-141116947	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr2:141116619-141116903	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr2:141150462-141150669	HepG2	liver:	n/a	n/a
39	EP300	chr2:141111093-141111533	Hela-S3	cervix:	n/a	n/a
40	EP300	chr2:141111050-141111673	SK-N-SH	brain:	n/a	n/a
41	EP300	chr2:141150336-141150754	HepG2	liver:	n/a	chr2:141150423-141150433
42	EP300	chr2:141116331-141117721	SK-N-SH	brain:	n/a	chr2:141116521-141116535 chr2:141117150-141117159 chr2:141116524-141116538
43	FOS	chr2:141111139-141111408	HUVEC	blood vessel:	n/a	chr2:141111222-141111233
44	FOS	chr2:141111073-141111556	MCF10A-Er-Src	breast:	n/a	chr2:141111436-141111446 chr2:141111222-141111233 chr2:141111436-141111446 chr2:141111436-141111446
45	FOS	chr2:141111075-141111438	MCF10A-Er-Src	breast:	n/a	chr2:141111222-141111233
46	FOS	chr2:141148292-141148511	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:141111074-141111487	MCF10A-Er-Src	breast:	n/a	chr2:141111436-141111446 chr2:141111222-141111233 chr2:141111436-141111446 chr2:141111436-141111446
48	FOS	chr2:141111065-141111545	MCF10A-Er-Src	breast:	n/a	chr2:141111436-141111446 chr2:141111222-141111233 chr2:141111436-141111446 chr2:141111436-141111446
49	FOSL2	chr2:141110990-141111589	SK-N-SH	brain:	n/a	chr2:141111436-141111446 chr2:141111436-141111446 chr2:141111436-141111446
50	FOXA1	chr2:141119983-141120239	T-47D	breast:	n/a	chr2:141120065-141120080

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:141121172..141124109-chr2:141126429..141129083,2	MCF-7	breast:
2	chr2:141121172..141124109-chr2:141126429..141129083,2	MCF-7	breast:

Variant related genes	Relation type
LRP1B	TF binding region

Extended variants
information (count: 1273 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1273 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs614390	chr2:141111125-141111126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75674200	chr2:141111141-141111142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569439159	chr2:141111142-141111143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186968444	chr2:141111166-141111167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191755498	chr2:141111243-141111244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181418884	chr2:141111246-141111247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1518450	chr2:141111249-141111250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533851656	chr2:141111253-141111254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200416517	chr2:141111382-141111383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201485745	chr2:141111383-141111384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550474558	chr2:141111408-141111409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143076542	chr2:141111409-141111410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540232760	chr2:141111426-141111427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573645757	chr2:141111428-141111429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146113489	chr2:141111444-141111445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556135799	chr2:141111456-141111457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576281762	chr2:141111484-141111485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139859602	chr2:141111533-141111534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186649637	chr2:141111534-141111535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377706730	chr2:141111586-141111587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533276415	chr2:141111622-141111623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540298231	chr2:141111654-141111655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370806156	chr2:141111656-141111657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189917954	chr2:141111684-141111685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549358076	chr2:141111708-141111709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182233249	chr2:141111709-141111710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532018304	chr2:141111713-141111714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186621365	chr2:141111725-141111726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191063144	chr2:141111831-141111832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538660854	chr2:141111832-141111833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553792296	chr2:141111849-141111850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114105776	chr2:141111888-141111889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13035726	chr2:141111903-141111904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567273627	chr2:141111935-141111936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149413410	chr2:141111941-141111942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556113881	chr2:141111949-141111950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35828591	chr2:141111983-141111984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183953144	chr2:141112010-141112011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17477639	chr2:141112027-141112028	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558348874	chr2:141112045-141112046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571871415	chr2:141112091-141112092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188507819	chr2:141112092-141112093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560262497	chr2:141112141-141112142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193168218	chr2:141112163-141112164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568277348	chr2:141112212-141112213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143947246	chr2:141112322-141112323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74406838	chr2:141112328-141112329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531933820	chr2:141112343-141112344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552016614	chr2:141112366-141112367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183325017	chr2:141112385-141112386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141106200-141113600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:141106800-141112200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:141106800-141113000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:141107000-141111200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:141107000-141111400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:141107400-141113400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:141107600-141111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:141111000-141111600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:141111000-141111800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:141111000-141112000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:141111000-141112200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:141111200-141112400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:141111400-141112000	Enhancers	Hela-S3	cervix
14	chr2:141111400-141114600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:141111600-141112000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:141111600-141112200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:141112000-141112200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:141112000-141114200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:141112000-141114400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:141112200-141112400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:141112200-141113200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:141112200-141113200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:141112200-141116600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:141112400-141112800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:141112400-141113400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:141112800-141114600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:141113000-141114000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:141113200-141114000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:141113200-141114200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:141113200-141114600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:141113400-141114000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:141113400-141114400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:141113600-141113800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:141116800-141117000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:141117400-141117600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:141117600-141118200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:141118200-141118400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:141118400-141124200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:141131600-141131800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:141131800-141132400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:141132200-141132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:141132400-141134200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:141132600-141132800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:141132800-141133800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:141133200-141143200	Weak transcription	Brain Substantia Nigra	brain
46	chr2:141134000-141134600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:141134200-141134400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:141134200-141134600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:141134600-141135000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:141135000-141142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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