Variant report

Variant	nsv457963
Chromosome Location	chr2:57060131-57397423
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	chr2:57307177-57307600	HCT-116	colon:	n/a	n/a
2	ATF3	chr2:57307197-57307544	HCT-116	colon:	n/a	n/a
3	BHLHE40	chr2:57296472-57296568	A549	lung:	n/a	n/a
4	BHLHE40	chr2:57323040-57323069	K562	blood:	n/a	n/a
5	BHLHE40	chr2:57361927-57361928	GM12878	blood:	n/a	n/a
6	CBX3	chr2:57307175-57307529	HCT-116	colon:	n/a	n/a
7	CBX3	chr2:57307210-57307602	HCT-116	colon:	n/a	n/a
8	CBX3	chr2:57067124-57067469	HCT-116	colon:	n/a	n/a
9	CEBPB	chr2:57365771-57365904	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:57209986-57210649	A549	lung:	n/a	chr2:57210171-57210182
11	CEBPB	chr2:57098783-57099024	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr2:57315773-57315845	K562	blood:	n/a	chr2:57315794-57315805
13	CEBPB	chr2:57281660-57281670	K562	blood:	n/a	n/a
14	CEBPB	chr2:57098748-57099073	IMR90	lung:	n/a	n/a
15	CEBPB	chr2:57325005-57325372	A549	lung:	n/a	chr2:57325181-57325192
16	CEBPB	chr2:57325039-57325264	Hela-S3	cervix:	n/a	chr2:57325181-57325192
17	CEBPB	chr2:57281573-57281844	HepG2	liver:	n/a	chr2:57281722-57281733
18	CEBPB	chr2:57374704-57374933	A549	lung:	n/a	chr2:57374793-57374804
19	CEBPB	chr2:57327641-57327987	IMR90	lung:	n/a	chr2:57327804-57327815
20	CEBPB	chr2:57210399-57210603	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr2:57297485-57297666	A549	lung:	n/a	chr2:57297542-57297553 chr2:57297542-57297555
22	CEBPB	chr2:57210008-57210667	Hela-S3	cervix:	n/a	chr2:57210171-57210182
23	CEBPB	chr2:57384305-57384368	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:57209998-57210535	IMR90	lung:	n/a	chr2:57210171-57210182
25	CEBPB	chr2:57327623-57327964	HepG2	liver:	n/a	chr2:57327804-57327815
26	CEBPB	chr2:57374648-57374899	Hela-S3	cervix:	n/a	chr2:57374793-57374804
27	CEBPB	chr2:57297417-57297708	HepG2	liver:	n/a	chr2:57297542-57297553 chr2:57297542-57297555
28	CEBPB	chr2:57184386-57184595	IMR90	lung:	n/a	chr2:57184507-57184518
29	CEBPB	chr2:57092289-57092556	HepG2	liver:	n/a	chr2:57092419-57092430
30	CEBPB	chr2:57325031-57325317	H1-hESC	embryonic stem cell:	n/a	chr2:57325181-57325192
31	CEBPB	chr2:57325016-57325329	K562	blood:	n/a	chr2:57325181-57325192
32	CEBPB	chr2:57183987-57184634	HepG2	liver:	n/a	chr2:57184507-57184518
33	CEBPB	chr2:57307153-57307509	HCT-116	colon:	n/a	n/a
34	CEBPB	chr2:57304138-57304383	A549	lung:	n/a	chr2:57304254-57304265
35	CEBPB	chr2:57323541-57323735	HepG2	liver:	n/a	chr2:57323574-57323583 chr2:57323572-57323583 chr2:57323574-57323583 chr2:57323572-57323585 chr2:57323574-57323583 chr2:57323574-57323585 chr2:57323574-57323583
36	CEBPB	chr2:57098758-57099052	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:57304143-57304343	HepG2	liver:	n/a	chr2:57304254-57304265
38	CEBPB	chr2:57327642-57327964	A549	lung:	n/a	chr2:57327804-57327815
39	CEBPB	chr2:57315662-57315950	HepG2	liver:	n/a	chr2:57315794-57315805
40	CEBPB	chr2:57325002-57325371	IMR90	lung:	n/a	chr2:57325181-57325192
41	CEBPB	chr2:57210085-57210188	H1-hESC	embryonic stem cell:	n/a	chr2:57210171-57210182
42	CEBPB	chr2:57098783-57099028	A549	lung:	n/a	n/a
43	CEBPB	chr2:57374649-57374954	HepG2	liver:	n/a	chr2:57374793-57374804
44	CEBPB	chr2:57210056-57210648	HepG2	liver:	n/a	chr2:57210171-57210182
45	CEBPB	chr2:57210010-57210254	K562	blood:	n/a	chr2:57210171-57210182
46	CEBPB	chr2:57189874-57190192	A549	lung:	n/a	n/a
47	CEBPB	chr2:57315693-57315923	A549	lung:	n/a	chr2:57315794-57315805
48	CEBPB	chr2:57072133-57072333	A549	lung:	n/a	n/a
49	CEBPB	chr2:57183998-57184543	A549	lung:	n/a	chr2:57184507-57184518
50	CEBPB	chr2:57327747-57327964	K562	blood:	n/a	chr2:57327804-57327815

No.	Distal block	Cell Line	Cell type
1	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
2	chr2:57334344..57336154-chr2:57336415..57339096,2	K562	blood:
3	chr2:56409694..56412486-chr2:57365790..57369711,3	MCF-7	breast:
4	chr2:57275015..57275515-chr9:135897506..135898082,2	MCF-7	breast:
5	chr2:57035108..57036803-chr2:57124744..57126282,2	K562	blood:
6	chr2:57037052..57037562-chr2:57367504..57368073,2	MCF-7	breast:
7	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
8	chr2:50393423..50394149-chr2:57299588..57300484,2	MCF-7	breast:
9	chr2:57048488..57050051-chr2:57058805..57060828,2	MCF-7	breast:
10	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
11	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
12	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:
13	chr2:57069877..57070526-chr8:126036477..126036977,2	MCF-7	breast:
14	chr2:57140755..57141275-chr7:78397919..78398439,2	MCF-7	breast:
15	chr2:57125151..57127960-chr2:57127962..57130049,3	K562	blood:
16	chr2:57195854..57197711-chr2:57199623..57201221,2	MCF-7	breast:
17	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
18	chr2:56411333..56413032-chr2:57196055..57197741,2	MCF-7	breast:
19	chr2:57078712..57081570-chr2:57085174..57087217,2	MCF-7	breast:
20	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:
21	chr2:57359385..57360901-chr2:57363055..57366048,2	MCF-7	breast:
22	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
23	chr2:57359385..57360901-chr2:57363055..57366048,2	MCF-7	breast:
24	chr2:57298072..57298949-chr7:67013799..67014465,2	MCF-7	breast:
25	chr2:57078712..57081570-chr2:57085174..57087217,2	MCF-7	breast:
26	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:
27	chr2:57334344..57336154-chr2:57336415..57339096,2	K562	blood:
28	chr2:57125151..57127960-chr2:57127962..57130049,3	K562	blood:
29	chr2:57195854..57197711-chr2:57199623..57201221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271115	TF binding region
ENSG00000238690	TF binding region
ENSG00000233251	chromatin interactions
ENSG00000055813	chromatin interactions

Extended variants
information (count: 1783 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1783 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2193631	chr2:57068616-57068617	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536804978	chr2:57068634-57068635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs2904425	chr2:57068656-57068657	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144496850	chr2:57068669-57068670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs539315041	chr2:57068674-57068675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs3919559	chr2:57068693-57068694	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572392224	chr2:57068726-57068727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541210485	chr2:57068782-57068783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148421508	chr2:57068783-57068784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532085113	chr2:57073622-57073623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558406781	chr2:57073638-57073639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71411349	chr2:57073640-57073641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565740398	chr2:57073646-57073647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386646398	chr2:57073648-57073649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9753327	chr2:57073649-57073650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190549950	chr2:57073664-57073665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116863274	chr2:57073666-57073667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180716451	chr2:57073696-57073697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538987212	chr2:57073697-57073698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145623443	chr2:57073711-57073712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572528519	chr2:57073719-57073720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112678183	chr2:57073746-57073747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534776792	chr2:57073747-57073748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146639848	chr2:57073764-57073765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554382428	chr2:57073776-57073777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574289618	chr2:57073794-57073795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543315503	chr2:57073805-57073806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573998715	chr2:57073825-57073826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543013901	chr2:57073862-57073863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185096023	chr2:57073895-57073896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149213890	chr2:57073924-57073925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190003836	chr2:57073930-57073931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75004326	chr2:57073971-57073972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115654804	chr2:57074001-57074002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12478750	chr2:57074019-57074020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377559345	chr2:57074050-57074051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181255707	chr2:57074056-57074057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185617098	chr2:57074071-57074072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143367061	chr2:57074090-57074091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79984808	chr2:57074138-57074139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540196572	chr2:57074143-57074144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538938956	chr2:57074155-57074156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370971140	chr2:57074163-57074164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148348792	chr2:57074197-57074198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141500493	chr2:57074205-57074206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191761963	chr2:57074208-57074209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113343640	chr2:57074210-57074211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138708649	chr2:57074215-57074216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142708530	chr2:57074256-57074257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536815768	chr2:57074262-57074263	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57068600-57068800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:57073600-57074400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr2:57078600-57079200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:57079800-57080000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
5	chr2:57080000-57081400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:57098200-57098600	Enhancers	NHEK	skin
7	chr2:57101000-57104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:57102000-57102800	Enhancers	Spleen	Spleen
9	chr2:57132800-57133200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:57132800-57133200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:57145800-57146200	Enhancers	Aorta	Aorta
12	chr2:57161600-57162600	Enhancers	Fetal Brain Female	brain
13	chr2:57162400-57162600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:57164400-57165000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:57164400-57165000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:57164400-57165000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:57165600-57166000	Enhancers	Fetal Brain Male	brain
18	chr2:57166800-57167000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:57191000-57191800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:57193600-57194400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:57193600-57194400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:57193600-57194400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:57194200-57194400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:57194400-57196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:57194400-57196200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:57194400-57196200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:57196200-57196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:57196200-57196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:57196200-57196800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:57196200-57196800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:57196200-57197600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:57198400-57199800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:57208400-57208800	Enhancers	HSMM	muscle
34	chr2:57263000-57263400	Enhancers	Pancreas	Pancrea
35	chr2:57266600-57267000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:57272200-57272800	Enhancers	Brain Angular Gyrus	brain
37	chr2:57272200-57273000	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:57272400-57272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:57272400-57272800	Enhancers	Brain Substantia Nigra	brain
40	chr2:57273600-57274000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:57302000-57302400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:57302000-57303000	Enhancers	NHEK	skin
43	chr2:57302200-57302600	Enhancers	HMEC	breast
44	chr2:57302400-57304600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:57304600-57307000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:57306800-57307400	Enhancers	A549	lung
47	chr2:57307000-57307400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:57311200-57311800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:57332200-57333600	Enhancers	Fetal Intestine Large	intestine
50	chr2:57332400-57332600	Enhancers	Liver	Liver

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