Variant report

Variant	nsv458052
Chromosome Location	chr2:58388696-58450569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:420)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:58431284-58432117	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:58397762-58398004	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:58409811-58409980	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:58422904-58423108	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:58430323-58430835	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:58429321-58429553	HepG2	liver:	n/a	n/a
7	BHLHE40	chr2:58431466-58431786	HepG2	liver:	n/a	n/a
8	BHLHE40	chr2:58397649-58397926	HepG2	liver:	n/a	n/a
9	BHLHE40	chr2:58397645-58397917	HepG2	liver:	n/a	n/a
10	CBX3	chr2:58438135-58438410	K562	blood:	n/a	n/a
11	CBX3	chr2:58437899-58438520	K562	blood:	n/a	n/a
12	CEBPB	chr2:58422808-58423189	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:58390999-58391535	A549	lung:	n/a	chr2:58391243-58391256
14	CEBPB	chr2:58389936-58389947	K562	blood:	n/a	n/a
15	CEBPB	chr2:58409784-58409953	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:58391214-58391396	H1-hESC	embryonic stem cell:	n/a	chr2:58391243-58391256
17	CEBPB	chr2:58391097-58391399	A549	lung:	n/a	chr2:58391243-58391256
18	CEBPB	chr2:58422809-58423187	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:58422840-58423169	MCF-7	breast:	n/a	n/a
20	CEBPB	chr2:58437697-58437729	A549	lung:	n/a	n/a
21	CEBPB	chr2:58421888-58421916	K562	blood:	n/a	n/a
22	CEBPB	chr2:58449068-58449430	Hela-S3	cervix:	n/a	chr2:58449241-58449252 chr2:58449239-58449252
23	CEBPB	chr2:58424875-58425047	HepG2	liver:	n/a	chr2:58424988-58424999
24	CEBPB	chr2:58391084-58391415	HepG2	liver:	n/a	chr2:58391243-58391256
25	CEBPB	chr2:58397770-58397914	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:58422805-58423189	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr2:58409559-58410164	A549	lung:	n/a	n/a
28	CEBPB	chr2:58422891-58423058	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:58391078-58391424	IMR90	lung:	n/a	chr2:58391243-58391256
30	CEBPB	chr2:58422828-58423177	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr2:58412977-58413018	A549	lung:	n/a	n/a
32	CEBPB	chr2:58422714-58423193	MCF-7	breast:	n/a	n/a
33	CEBPB	chr2:58391066-58391423	K562	blood:	n/a	chr2:58391243-58391256
34	CEBPB	chr2:58421855-58421904	IMR90	lung:	n/a	chr2:58421882-58421893
35	CEBPB	chr2:58422883-58423164	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:58409654-58410063	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr2:58434036-58434738	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr2:58444420-58444570	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr2:58444396-58444551	Fibrobl	skin:	n/a	n/a
40	CTCF	chr2:58444380-58444530	HepG2	liver:	n/a	n/a
41	CTCF	chr2:58444440-58444590	A549	lung:	n/a	n/a
42	CTCF	chr2:58444380-58444530	HAc	cerebellar:	n/a	n/a
43	CTCF	chr2:58444440-58444590	HFF	foreskin:	n/a	n/a
44	CTCF	chr2:58444360-58444510	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr2:58444374-58444560	A549	lung:	n/a	n/a
46	CTCF	chr2:58444428-58444563	K562	blood:	n/a	n/a
47	CTCF	chr2:58444385-58444564	ProgFib	skin:	n/a	n/a
48	CTCF	chr2:58444380-58444530	NHEK	skin:	n/a	n/a
49	CTCF	chr2:58444407-58444518	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr2:58444360-58444510	MCF-7	breast:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:58382472..58384235-chr2:58388859..58391605,2	MCF-7	breast:
2	chr2:58448017..58451286-chr2:58451498..58454786,5	K562	blood:
3	chr2:58420883..58422711-chr2:60798849..60801703,2	MCF-7	breast:
4	chr2:58442380..58445315-chr2:58458064..58460897,2	MCF-7	breast:
5	chr2:58428111..58430458-chr2:58435742..58437845,2	K562	blood:
6	chr2:58444634..58446465-chr2:58458026..58460794,3	MCF-7	breast:
7	chr2:58390705..58393005-chr2:58433793..58436781,2	K562	blood:
8	chr2:58427142..58430868-chr2:58432407..58434605,4	K562	blood:
9	chr2:58417379..58419777-chr2:58466970..58469419,2	K562	blood:
10	chr2:58428111..58430458-chr2:58435742..58437845,2	K562	blood:
11	chr2:58418370..58420145-chr2:58421628..58423129,2	K562	blood:
12	chr2:58438532..58441136-chr2:58448840..58451034,2	K562	blood:
13	chr2:58427142..58430868-chr2:58432407..58434605,4	K562	blood:
14	chr14:66359504..66360065-chr2:58426278..58426972,2	MCF-7	breast:
15	chr2:58437256..58439739-chr2:58439899..58441401,2	K562	blood:
16	chr2:58437256..58439739-chr2:58439899..58441401,2	K562	blood:
17	chr2:58442084..58444687-chr2:58485328..58487368,2	MCF-7	breast:
18	chr2:58438532..58441136-chr2:58448840..58451034,2	K562	blood:
19	chr2:58273167..58274943-chr2:58395167..58397109,2	K562	blood:
20	chr2:58444316..58447844-chr2:58463533..58467170,3	K562	blood:
21	chr2:58418370..58420145-chr2:58421628..58423129,2	K562	blood:
22	chr2:58421065..58422732-chr2:58460055..58462156,2	K562	blood:
23	chr2:58448319..58453371-chr2:58460380..58466527,5	K562	blood:

No data

Variant related genes	Relation type
FANCL	TF binding region
ENSG00000273063	chromatin interactions
ENSG00000028116	chromatin interactions
ENSG00000115392	chromatin interactions

Extended variants
information (count: 2797 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2797 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs848291	chr2:58388696-58388697	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200819615	chr2:58388708-58388709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140088149	chr2:58388714-58388715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535641432	chr2:58388738-58388739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529201454	chr2:58388744-58388745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553742734	chr2:58388764-58388765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375672771	chr2:58388787-58388788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377725250	chr2:58388792-58388793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371522975	chr2:58388794-58388795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374165109	chr2:58388795-58388796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374093014	chr2:58388802-58388803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572025197	chr2:58388838-58388839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539421608	chr2:58388844-58388845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557759572	chr2:58388864-58388865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576114611	chr2:58388904-58388905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543594856	chr2:58388926-58388927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562307386	chr2:58388933-58388934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111232204	chr2:58388936-58388937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376390237	chr2:58388961-58388962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542791123	chr2:58388962-58388963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146941075	chr2:58389007-58389008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17049389	chr2:58389064-58389065	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181011049	chr2:58389073-58389074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552185034	chr2:58389084-58389085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369374140	chr2:58389114-58389115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532128253	chr2:58389115-58389116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562382460	chr2:58389149-58389150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551840486	chr2:58389180-58389181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs848290	chr2:58389182-58389183	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549563646	chr2:58389191-58389192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56390816	chr2:58389211-58389212	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs137968543	chr2:58389307-58389308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547592477	chr2:58389331-58389332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565679072	chr2:58389360-58389361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143549675	chr2:58389393-58389394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557722733	chr2:58389399-58389400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534669509	chr2:58389416-58389417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572749995	chr2:58389426-58389427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569764238	chr2:58389431-58389432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537459406	chr2:58389441-58389442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376302617	chr2:58389460-58389461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370702600	chr2:58389470-58389471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190410522	chr2:58389547-58389548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527685510	chr2:58389548-58389549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35823028	chr2:58389560-58389561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115916037	chr2:58389572-58389573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183036287	chr2:58389586-58389587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200614051	chr2:58389632-58389633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545762577	chr2:58389635-58389636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7580070	chr2:58389657-58389658	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
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
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

Chromatin state (count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
3	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:58359000-58391400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:58359200-58395200	Weak transcription	Fetal Stomach	stomach
9	chr2:58359200-58399200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:58359400-58389400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:58359800-58392000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:58363400-58399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:58363600-58406800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:58365200-58390000	Weak transcription	Psoas Muscle	Psoas
15	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:58368200-58403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:58368200-58417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:58368600-58399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:58373800-58389600	Weak transcription	Thymus	Thymus
20	chr2:58374000-58389400	Weak transcription	Right Ventricle	heart
21	chr2:58374400-58393400	Weak transcription	NHEK	skin
22	chr2:58374400-58397400	Weak transcription	Fetal Heart	heart
23	chr2:58379800-58389400	Strong transcription	Primary B cells from cord blood	blood
24	chr2:58380800-58398800	Weak transcription	Spleen	Spleen
25	chr2:58381000-58398800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:58381200-58391600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:58381800-58390000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:58382200-58388800	Strong transcription	GM12878-XiMat	blood
29	chr2:58382200-58390200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr2:58382200-58393200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:58382400-58389200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:58382400-58390000	Strong transcription	Adipose Nuclei	Adipose
33	chr2:58382400-58390200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:58382400-58390400	Strong transcription	Fetal Intestine Large	intestine
35	chr2:58382400-58391800	Strong transcription	Dnd41	blood
36	chr2:58382600-58390600	Strong transcription	Liver	Liver
37	chr2:58382600-58391400	Weak transcription	Brain Angular Gyrus	brain
38	chr2:58382600-58394000	Weak transcription	Fetal Brain Male	brain
39	chr2:58382600-58395400	Weak transcription	Pancreas	Pancrea
40	chr2:58382600-58395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:58382600-58400200	Weak transcription	Brain Germinal Matrix	brain
42	chr2:58382600-58400400	Weak transcription	Gastric	stomach
43	chr2:58382800-58394400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:58382800-58395800	Weak transcription	Lung	lung
45	chr2:58382800-58398800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:58382800-58398800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:58382800-58399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:58383000-58415600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:58383200-58389600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:58383200-58391800	Weak transcription	Colon Smooth Muscle	Colon

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