Variant report

Variant	nsv583010
Chromosome Location	chr2:126962441-127079722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:655)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:127065747-127066188	K562	blood:	n/a	n/a
2	ARID3A	chr2:127066469-127066679	K562	blood:	n/a	n/a
3	ARID3A	chr2:126988167-126988210	K562	blood:	n/a	n/a
4	ATF1	chr2:127064282-127064489	K562	blood:	n/a	n/a
5	BACH1	chr2:127075391-127075602	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:127075317-127075498	K562	blood:	n/a	n/a
7	BCLAF1	chr2:127065316-127065670	K562	blood:	n/a	n/a
8	BCLAF1	chr2:127065682-127066113	K562	blood:	n/a	n/a
9	BHLHE40	chr2:127065741-127066125	K562	blood:	n/a	n/a
10	BHLHE40	chr2:127033610-127033850	K562	blood:	n/a	n/a
11	BHLHE40	chr2:127075445-127075735	K562	blood:	n/a	n/a
12	BHLHE40	chr2:127064008-127064022	GM12878	blood:	n/a	n/a
13	CBX3	chr2:127065714-127066235	K562	blood:	n/a	n/a
14	CBX3	chr2:127065583-127066431	K562	blood:	n/a	n/a
15	CCNT2	chr2:126979227-126979431	K562	blood:	n/a	n/a
16	CEBPB	chr2:127075447-127075668	K562	blood:	n/a	n/a
17	CEBPB	chr2:127032653-127033111	K562	blood:	n/a	n/a
18	CEBPB	chr2:127026003-127026347	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr2:127058714-127058795	A549	lung:	n/a	n/a
20	CEBPB	chr2:127032685-127033063	K562	blood:	n/a	n/a
21	CEBPB	chr2:126965950-126966118	H1-hESC	embryonic stem cell:	n/a	chr2:126966076-126966087
22	CEBPB	chr2:127063647-127063941	IMR90	lung:	n/a	chr2:127063777-127063788
23	CEBPB	chr2:127065583-127066241	K562	blood:	n/a	chr2:127065977-127065988
24	CEBPB	chr2:127058719-127058901	HepG2	liver:	n/a	chr2:127058794-127058805
25	CEBPB	chr2:126972867-126972872	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:127063596-127063981	K562	blood:	n/a	chr2:127063777-127063788
27	CEBPB	chr2:127063571-127063887	K562	blood:	n/a	chr2:127063777-127063788
28	CEBPB	chr2:127030099-127030156	HepG2	liver:	n/a	chr2:127030107-127030119
29	CEBPB	chr2:127058001-127058132	HepG2	liver:	n/a	chr2:127058052-127058063
30	CEBPB	chr2:127032739-127032956	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr2:127074291-127074511	HepG2	liver:	n/a	chr2:127074350-127074359 chr2:127074348-127074359 chr2:127074350-127074361 chr2:127074348-127074361
32	CEBPB	chr2:127063629-127063966	HepG2	liver:	n/a	chr2:127063777-127063788
33	CEBPB	chr2:127065788-127066123	K562	blood:	n/a	chr2:127065977-127065988
34	CEBPB	chr2:127032728-127033056	K562	blood:	n/a	n/a
35	CEBPB	chr2:127065602-127066277	K562	blood:	n/a	chr2:127065977-127065988
36	CEBPB	chr2:127057246-127057328	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:127065896-127066112	HepG2	liver:	n/a	chr2:127065977-127065988
38	CEBPB	chr2:127032720-127033055	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:126965925-126966248	HepG2	liver:	n/a	chr2:126966076-126966087
40	CEBPB	chr2:127032787-127033015	A549	lung:	n/a	n/a
41	CEBPB	chr2:127038381-127038408	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr2:127074277-127074503	K562	blood:	n/a	chr2:127074350-127074359 chr2:127074348-127074359 chr2:127074350-127074361 chr2:127074348-127074361
43	CEBPB	chr2:126965984-126966195	K562	blood:	n/a	chr2:126966076-126966087
44	CEBPB	chr2:127063662-127063938	A549	lung:	n/a	chr2:127063777-127063788
45	CEBPB	chr2:127020627-127020908	HepG2	liver:	n/a	chr2:127020777-127020788
46	CEBPB	chr2:127063671-127063932	H1-hESC	embryonic stem cell:	n/a	chr2:127063777-127063788
47	CEBPD	chr2:127032778-127033087	K562	blood:	n/a	n/a
48	CEBPD	chr2:127065736-127066346	K562	blood:	n/a	n/a
49	CEBPD	chr2:126979063-126979398	K562	blood:	n/a	n/a
50	CEBPD	chr2:127065594-127066334	K562	blood:	n/a	n/a

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:127002328..127003186-chr2:127807433..127808421,2	K562	blood:
2	chr2:127002261..127003206-chr2:127534544..127535568,4	MCF-7	breast:
3	chr2:127022733..127024721-chr2:127064398..127066092,2	K562	blood:
4	chr2:127009698..127011900-chr2:127012722..127015678,2	MCF-7	breast:
5	chr2:127005363..127007196-chr2:127065380..127068265,2	K562	blood:
6	chr2:127040484..127043318-chr2:127048128..127049666,2	K562	blood:
7	chr2:127077598..127081190-chr2:127081547..127085586,3	K562	blood:
8	chr2:127041438..127045671-chr2:127046702..127049174,3	K562	blood:
9	chr2:127002510..127003198-chr2:127534689..127535540,2	MCF-7	breast:
10	chr2:127047489..127050410-chr2:127061477..127063111,3	K562	blood:
11	chr2:127049240..127051434-chr2:127053138..127056030,2	K562	blood:
12	chr2:127027671..127029245-chr2:127034455..127036337,2	K562	blood:
13	chr2:127048776..127051434-chr2:127053138..127055273,2	K562	blood:
14	chr2:127049240..127051434-chr2:127053138..127056030,2	K562	blood:
15	chr2:127047489..127050410-chr2:127061477..127063111,3	K562	blood:
16	chr2:127040484..127043318-chr2:127048128..127049666,2	K562	blood:
17	chr2:127067247..127071190-chr2:127077622..127082777,4	K562	blood:
18	chr2:127005924..127008963-chr2:127010494..127013764,3	K562	blood:
19	chr2:127047421..127050381-chr2:127057655..127059904,2	K562	blood:
20	chr2:127027819..127029825-chr2:127044636..127047534,2	K562	blood:
21	chr2:127009698..127011900-chr2:127012722..127015678,2	MCF-7	breast:
22	chr2:126943914..126946210-chr2:126970364..126971921,2	K562	blood:
23	chr2:127069123..127070890-chr2:127079088..127081471,2	K562	blood:
24	chr2:127000756..127002293-chr2:127004018..127005768,2	MCF-7	breast:
25	chr2:127066669..127069637-chr2:127074949..127077598,2	K562	blood:
26	chr2:127027458..127030124-chr2:127074150..127076122,2	K562	blood:
27	chr1:112162320..112163164-chr2:126989298..126989817,2	Hela-S3	cervix:
28	chr2:127048911..127050723-chr2:127064487..127067288,2	K562	blood:
29	chr2:127041438..127045671-chr2:127046702..127049174,3	K562	blood:
30	chr2:127005924..127008963-chr2:127010494..127013764,3	K562	blood:
31	chr2:127002488..127003146-chr2:127240428..127241073,2	K562	blood:
32	chr2:127047834..127050586-chr2:127064392..127067288,3	K562	blood:
33	chr2:127048776..127051434-chr2:127053138..127055273,2	K562	blood:
34	chr2:127027671..127029245-chr2:127034455..127036337,2	K562	blood:
35	chr2:127000756..127002293-chr2:127004018..127005768,2	MCF-7	breast:
36	chr2:127027458..127030124-chr2:127074150..127076122,2	K562	blood:
37	chr2:127027819..127029825-chr2:127044636..127047534,2	K562	blood:
38	chr2:127047421..127050381-chr2:127057655..127059904,2	K562	blood:
39	chr2:126502797..126503723-chr2:127002290..127003108,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BIN1-8	chr2:127069043-127069504	NONHSAT074128
2	lnc-GYPC-2	chr2:127069878-127070114	ENSG00000235774
3	lnc-GYPC-2	chr2:127066087-127066222	ENSG00000235774
4	lnc-GYPC-2	chr2:127069791-127071117	NONHSAT074129

No data

Variant related genes	Relation type
ENSG00000236655	TF binding region
ENSG00000235774	TF binding region
ENSG00000116473	chromatin interactions
ENSG00000236655	chromatin interactions
ENSG00000235774	chromatin interactions

Extended variants
information (count: 2660 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2660 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185098953	chr2:126965404-126965405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115778773	chr2:126965419-126965420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543716682	chr2:126965443-126965444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372417588	chr2:126965455-126965456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144234625	chr2:126965456-126965457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17013415	chr2:126965458-126965459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74449366	chr2:126965496-126965497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28534844	chr2:126965504-126965505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528218821	chr2:126965516-126965517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551542263	chr2:126965519-126965520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564939065	chr2:126965532-126965533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190340783	chr2:126965557-126965558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147355709	chr2:126965564-126965565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112038995	chr2:126965571-126965572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139528960	chr2:126965601-126965602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115932394	chr2:126965607-126965608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535833817	chr2:126965625-126965626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181171375	chr2:126965635-126965636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75797481	chr2:126965669-126965670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566162625	chr2:126965682-126965683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554324656	chr2:126965741-126965742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534847416	chr2:126965761-126965762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28680276	chr2:126965762-126965763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372642105	chr2:126965806-126965807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145137744	chr2:126965808-126965809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116490064	chr2:126965828-126965829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185756913	chr2:126965844-126965845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55915211	chr2:126965846-126965847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574030407	chr2:126965872-126965873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112066453	chr2:126965893-126965894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116356622	chr2:126965944-126965945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151290222	chr2:126965976-126965977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559123524	chr2:126965994-126965995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560150536	chr2:126966016-126966017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188123170	chr2:126966053-126966054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200708485	chr2:126966062-126966063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180891416	chr2:126966097-126966098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4500895	chr2:126966164-126966165	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530740506	chr2:126966167-126966168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369769669	chr2:126966217-126966218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550827551	chr2:126966236-126966237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74931936	chr2:126966364-126966365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140573938	chr2:126966366-126966367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549350235	chr2:126966371-126966372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543424701	chr2:126966403-126966404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150061550	chr2:126966412-126966413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535070290	chr2:126966431-126966432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551606096	chr2:126966433-126966434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28699418	chr2:126966469-126966470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201542793	chr2:126966490-126966491	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126965400-126967200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:126973800-126974400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:126975000-126975400	Enhancers	Spleen	Spleen
4	chr2:126975400-126976600	Weak transcription	Spleen	Spleen
5	chr2:126976600-126976800	Enhancers	Spleen	Spleen
6	chr2:126978000-126978600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:126978000-126981600	Enhancers	Fetal Lung	lung
8	chr2:126978200-126978400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:126978200-126978600	Enhancers	NH-A	brain
10	chr2:126978200-126978600	Enhancers	NHLF	lung
11	chr2:126978600-126979600	Weak transcription	NHLF	lung
12	chr2:126979000-126980400	Enhancers	Fetal Heart	heart
13	chr2:126979600-126979800	Enhancers	NHLF	lung
14	chr2:126980000-126980200	Enhancers	Liver	Liver
15	chr2:126981600-126986000	Weak transcription	Fetal Lung	lung
16	chr2:126986000-126986200	Enhancers	Fetal Lung	lung
17	chr2:126993200-126993800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:126993200-126993800	Enhancers	Brain Anterior Caudate	brain
19	chr2:126993200-126994600	Enhancers	Brain Germinal Matrix	brain
20	chr2:126995600-126995800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:126996400-126997200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:126996600-127000800	Enhancers	Fetal Lung	lung
23	chr2:126997000-126997400	Enhancers	Fetal Heart	heart
24	chr2:126997200-126998000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:126997400-126998000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:126997400-126998400	Weak transcription	Fetal Heart	heart
27	chr2:126997800-126998000	Enhancers	Fetal Muscle Leg	muscle
28	chr2:126997800-126999800	Enhancers	Ovary	ovary
29	chr2:126998000-126999000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:126998000-126999000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:126998400-126998600	Enhancers	Pancreas	Pancrea
32	chr2:126998400-126999800	Enhancers	Fetal Heart	heart
33	chr2:126998600-126999400	Weak transcription	Pancreas	Pancrea
34	chr2:126999000-126999600	Enhancers	Fetal Muscle Leg	muscle
35	chr2:126999200-126999600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:126999400-126999600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:126999400-127000200	Enhancers	Pancreas	Pancrea
38	chr2:127000800-127004800	Weak transcription	Fetal Lung	lung
39	chr2:127004800-127007000	Enhancers	Fetal Lung	lung
40	chr2:127007000-127010600	Weak transcription	Fetal Lung	lung
41	chr2:127009800-127011800	Enhancers	Brain Germinal Matrix	brain
42	chr2:127010600-127011800	Enhancers	Fetal Lung	lung
43	chr2:127024600-127025200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:127032400-127033400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:127032600-127033400	Enhancers	K562	blood
46	chr2:127038200-127039000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:127044200-127046000	Weak transcription	K562	blood
48	chr2:127045400-127046000	Active TSS	Gastric	stomach
49	chr2:127046000-127046200	Enhancers	K562	blood
50	chr2:127046200-127055400	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links