Variant report

Variant	nsv1005661
Chromosome Location	chr2:57173613-57257496
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	chr2:57184386-57184595	IMR90	lung:	n/a	chr2:57184507-57184518
2	CEBPB	chr2:57210056-57210648	HepG2	liver:	n/a	chr2:57210171-57210182
3	CEBPB	chr2:57209986-57210649	A549	lung:	n/a	chr2:57210171-57210182
4	CEBPB	chr2:57183998-57184543	A549	lung:	n/a	chr2:57184507-57184518
5	CEBPB	chr2:57210010-57210254	K562	blood:	n/a	chr2:57210171-57210182
6	CEBPB	chr2:57210008-57210667	Hela-S3	cervix:	n/a	chr2:57210171-57210182
7	CEBPB	chr2:57183987-57184634	HepG2	liver:	n/a	chr2:57184507-57184518
8	CEBPB	chr2:57210085-57210188	H1-hESC	embryonic stem cell:	n/a	chr2:57210171-57210182
9	CEBPB	chr2:57189874-57190192	A549	lung:	n/a	n/a
10	CEBPB	chr2:57210399-57210603	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr2:57209998-57210535	IMR90	lung:	n/a	chr2:57210171-57210182
12	CTCF	chr2:57241460-57241610	GM12865	blood:	n/a	n/a
13	CTCF	chr2:57249420-57249570	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr2:57206506-57206533	GM10266	blood:	n/a	n/a
15	CTCF	chr2:57249300-57249450	BJ	skin:	n/a	n/a
16	CTCF	chr2:57212895-57212986	GM13976	blood:	n/a	n/a
17	CTCF	chr2:57212940-57213090	HCT-116	colon:	n/a	chr2:57212991-57213007
18	CTCF	chr2:57212898-57213010	GM12878	blood:	n/a	chr2:57212991-57213007
19	CTCF	chr2:57212860-57213010	HMEC	breast:	n/a	chr2:57212991-57213007
20	CTCF	chr2:57212880-57213030	GM12873	blood:	n/a	chr2:57212991-57213007
21	CTCF	chr2:57221744-57221776	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr2:57212940-57213090	HCPEpiC	choroid plexus:	n/a	chr2:57212991-57213007
23	CTCF	chr2:57213000-57213150	HMEC	breast:	n/a	n/a
24	CTCF	chr2:57253988-57254086	Lung_OC	lung:	n/a	n/a
25	CTCF	chr2:57212908-57213013	MCF-7	breast:	n/a	chr2:57212991-57213007
26	CTCF	chr2:57212860-57213010	HEEpiC	esophagus:	n/a	chr2:57212991-57213007
27	CTCF	chr2:57212844-57213043	GM12878	blood:	n/a	chr2:57212991-57213007
28	CTCF	chr2:57212938-57212990	GM10266	blood:	n/a	n/a
29	CTCF	chr2:57212960-57213110	MCF-7	breast:	n/a	chr2:57212991-57213007
30	CTCF	chr2:57212898-57213036	MCF-7	breast:	n/a	chr2:57212991-57213007
31	CTCF	chr2:57212940-57213090	HMF	breast:	n/a	chr2:57212991-57213007
32	CTCF	chr2:57212860-57213010	WERI-Rb-1	eye:	n/a	chr2:57212991-57213007
33	CTCF	chr2:57191408-57191424	Fibrobl	skin:	n/a	n/a
34	CTCF	chr2:57249500-57249650	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr2:57212913-57212998	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr2:57212903-57212998	GM10248	blood:	n/a	n/a
37	CTCF	chr2:57212900-57213050	HPF	lung:	n/a	chr2:57212991-57213007
38	CTCF	chr2:57212920-57213070	HCPEpiC	choroid plexus:	n/a	chr2:57212991-57213007
39	CTCF	chr2:57212905-57213020	NHEK	skin:	n/a	chr2:57212991-57213007
40	CTCF	chr2:57212924-57212989	GM13977	blood:	n/a	n/a
41	CTCF	chr2:57212880-57213030	GM12871	blood:	n/a	chr2:57212991-57213007
42	CTCF	chr2:57212940-57213090	SAEC	small airway:	n/a	chr2:57212991-57213007
43	CTCF	chr2:57212900-57213050	HBMEC	blood vessel:	n/a	chr2:57212991-57213007
44	CTCF	chr2:57249280-57249430	HRPEpiC	eye:	n/a	n/a
45	E2F4	chr2:57180730-57181205	MCF10A-Er-Src	breast:	n/a	n/a
46	EP300	chr2:57200220-57200244	GM12878	blood:	n/a	n/a
47	FOS	chr2:57191932-57192180	MCF10A-Er-Src	breast:	n/a	chr2:57192055-57192064 chr2:57192055-57192062
48	FOS	chr2:57191982-57192225	MCF10A-Er-Src	breast:	n/a	chr2:57192055-57192064 chr2:57192055-57192062
49	FOS	chr2:57191059-57191206	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:57198373-57199312	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
2	chr2:56411333..56413032-chr2:57196055..57197741,2	MCF-7	breast:
3	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
4	chr2:57195854..57197711-chr2:57199623..57201221,2	MCF-7	breast:
5	chr2:57195854..57197711-chr2:57199623..57201221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238690	TF binding region
ENSG00000233251	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529631899	chr2:57191008-57191009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549865256	chr2:57191077-57191078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569087099	chr2:57191127-57191128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6725604	chr2:57191136-57191137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546834495	chr2:57191157-57191158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566777087	chr2:57191180-57191181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527919903	chr2:57191231-57191232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529252065	chr2:57191240-57191241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572012169	chr2:57191244-57191245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113611675	chr2:57191279-57191280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112874548	chr2:57191300-57191301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114177253	chr2:57191331-57191332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113066306	chr2:57191351-57191352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536217292	chr2:57191379-57191380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556271050	chr2:57191386-57191387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576104453	chr2:57191422-57191423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200790532	chr2:57191424-57191425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370411519	chr2:57191448-57191449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180905624	chr2:57191449-57191450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143329413	chr2:57191459-57191460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185563954	chr2:57191514-57191515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560992571	chr2:57191519-57191520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150969374	chr2:57191537-57191538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543030804	chr2:57191622-57191623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191503704	chr2:57191623-57191624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532236113	chr2:57191635-57191636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552262614	chr2:57191642-57191643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571871959	chr2:57191719-57191720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72809219	chr2:57191727-57191728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17048553	chr2:57191733-57191734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539750070	chr2:57193641-57193642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373998865	chr2:57193642-57193643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368109926	chr2:57193648-57193649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17048562	chr2:57193680-57193681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541549665	chr2:57193706-57193707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180766072	chr2:57193731-57193732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183707800	chr2:57193753-57193754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1318764	chr2:57193758-57193759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189312536	chr2:57193841-57193842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11888362	chr2:57193872-57193873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529647596	chr2:57193887-57193888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368377307	chr2:57193904-57193905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552126946	chr2:57194014-57194015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60562169	chr2:57194015-57194016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546201884	chr2:57194023-57194024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397957788	chr2:57194026-57194027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568555144	chr2:57194027-57194028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181286814	chr2:57194038-57194039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375997792	chr2:57194047-57194048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528509327	chr2:57194053-57194054	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57191000-57191800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:57193600-57194400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:57193600-57194400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:57193600-57194400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:57194200-57194400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:57194400-57196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:57194400-57196200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:57194400-57196200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:57196200-57196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:57196200-57196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:57196200-57196800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:57196200-57196800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:57196200-57197600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:57198400-57199800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:57208400-57208800	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links