Variant report

Variant	nsv458363
Chromosome Location	chr2:78019344-78048765
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	chr2:78043808-78043996	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr2:78029044-78029185	HepG2	liver:	n/a	chr2:78029126-78029139 chr2:78029127-78029138
3	CTCF	chr2:78033617-78033669	Lung_OC	lung:	n/a	n/a
4	CTCF	chr2:78035672-78035707	Pancreas_OC	pancreas:	n/a	n/a
5	CTCF	chr2:78023640-78023790	Caco-2	colon:	n/a	n/a
6	CTCF	chr2:78023560-78023710	BE2_C	brain:	n/a	n/a
7	CTCF	chr2:78046932-78046967	GM20000	blood:	n/a	n/a
8	CTCF	chr2:78037650-78037693	GM10248	blood:	n/a	n/a
9	CTCF	chr2:78023640-78023790	BE2_C	brain:	n/a	n/a
10	E2F4	chr2:78024715-78025098	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr2:78027585-78027826	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr2:78027202-78027929	SK-N-SH	brain:	n/a	n/a
13	EP300	chr2:78027511-78027934	SK-N-SH_RA	brain:	n/a	n/a
14	FOS	chr2:78035048-78035255	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:78034997-78035233	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:78034937-78035262	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr2:78047726-78047838	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr2:78031017-78031193	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr2:78027554-78027828	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr2:78031841-78032277	T-47D	breast:	n/a	n/a
21	GATA3	chr2:78031867-78032220	T-47D	breast:	n/a	n/a
22	GATA3	chr2:78046144-78046344	SH-SY5Y	brain:	n/a	n/a
23	JUND	chr2:78024257-78024495	H1-hESC	embryonic stem cell:	n/a	chr2:78024399-78024407 chr2:78024399-78024406
24	MAFK	chr2:78043840-78044081	HepG2	liver:	n/a	chr2:78043921-78043930 chr2:78043921-78043931
25	MAZ	chr2:78020187-78020305	HepG2	liver:	n/a	n/a
26	MYC	chr2:78036494-78036560	MCF10A-Er-Src	breast:	n/a	n/a
27	NFYB	chr2:78042663-78043007	K562	blood:	n/a	n/a
28	POLR2A	chr2:78041277-78041375	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr2:78040505-78040523	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr2:78026034-78026241	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr2:78036023-78036073	Gliobla	brain:	n/a	n/a
32	POLR2A	chr2:78036149-78036167	Gliobla	brain:	n/a	n/a
33	POLR2A	chr2:78027614-78027826	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr2:78019536-78019577	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr2:78023049-78023224	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr2:78024279-78024633	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr2:78031866-78032002	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr2:78037725-78037759	ProgFib	skin:	n/a	n/a
39	RAD21	chr2:78023619-78023855	SK-N-SH_RA	brain:	n/a	n/a
40	RAD21	chr2:78023526-78023895	ECC-1	luminal epithelium:	n/a	n/a
41	RAD21	chr2:78027612-78027873	SK-N-SH_RA	brain:	n/a	n/a
42	RFX5	chr2:78020381-78020417	K562	blood:	n/a	n/a
43	RXRA	chr2:78043835-78044080	HepG2	liver:	n/a	chr2:78043937-78043946 chr2:78043937-78043956 chr2:78043961-78043974 chr2:78043961-78043974 chr2:78043992-78044006 chr2:78043948-78043957
44	STAT3	chr2:78035060-78035251	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr2:78040695-78040895	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr2:78034941-78035239	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF7L2	chr2:78034679-78035510	Hela-S3	cervix:	n/a	n/a
48	TCF7L2	chr2:78031773-78032132	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56735169..56737848-chr2:78047828..78049670,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-9	chr2:78019858-78020279	NONHSAT071833
2	lnc-REG3G-9	chr2:78019947-78020151	NONHSAT071834

Variant related genes	Relation type
ENSG00000237077	TF binding region
ENSG00000202077	chromatin interactions

Extended variants
information (count: 924 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10175035	chr2:78019344-78019345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558177690	chr2:78019367-78019368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553562832	chr2:78019371-78019372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145399648	chr2:78019386-78019387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376434647	chr2:78019401-78019402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545504162	chr2:78019405-78019406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192265198	chr2:78019425-78019426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577154026	chr2:78019426-78019427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572482632	chr2:78019458-78019459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541570462	chr2:78019589-78019590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561437996	chr2:78019600-78019601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7557682	chr2:78019635-78019636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530625348	chr2:78019652-78019653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572957208	chr2:78019653-78019654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544344909	chr2:78019672-78019673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564242909	chr2:78019719-78019720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148787822	chr2:78019733-78019734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546903351	chr2:78019839-78019840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369659281	chr2:78019879-78019880	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs184284936	chr2:78019886-78019887	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs199508990	chr2:78019892-78019893	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs190742559	chr2:78019895-78019896	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs549539814	chr2:78019914-78019915	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs193043751	chr2:78019918-78019919	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs147917607	chr2:78019921-78019922	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs184534528	chr2:78019960-78019961	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs571732267	chr2:78019972-78019973	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs534535222	chr2:78019983-78019984	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs189010856	chr2:78019992-78019993	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs10188249	chr2:78020003-78020004	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541382053	chr2:78020012-78020013	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs555046616	chr2:78020013-78020014	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs17358670	chr2:78020025-78020026	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs181280395	chr2:78020045-78020046	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs111476122	chr2:78020052-78020053	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs367731768	chr2:78020054-78020055	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs146954106	chr2:78020082-78020083	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs532964600	chr2:78020119-78020120	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs540582567	chr2:78020129-78020130	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs374614097	chr2:78020132-78020133	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs34071563	chr2:78020161-78020162	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs529316520	chr2:78020166-78020167	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs549352568	chr2:78020174-78020175	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs4613311	chr2:78020176-78020177	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs386519213	chr2:78020179-78020180	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs541567491	chr2:78020191-78020192	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs373550616	chr2:78020197-78020198	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs375511226	chr2:78020200-78020201	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs559875211	chr2:78020201-78020202	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs554319339	chr2:78020242-78020243	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78018000-78021200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:78023800-78024600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:78023800-78025000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:78023800-78025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:78024200-78024600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:78024200-78024800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:78024400-78025200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:78031000-78031200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:78031400-78032000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:78031600-78031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:78031800-78033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:78032000-78033000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:78032800-78033000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:78033000-78033400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:78033000-78036000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:78033800-78036000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:78034800-78035000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:78035000-78035400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:78035200-78035800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:78035200-78035800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:78035600-78035800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:78035800-78040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:78040000-78041000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:78040400-78041000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:78040600-78041000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:78040600-78041000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:78040600-78041000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:78040600-78041000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:78040600-78041200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:78040600-78041200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:78040600-78041200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:78040600-78041400	Enhancers	HepG2	liver
33	chr2:78040600-78042200	Enhancers	Fetal Intestine Large	intestine
34	chr2:78041000-78043600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:78041200-78048800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:78041400-78043600	Weak transcription	HepG2	liver
37	chr2:78043600-78044000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:78043600-78044000	Enhancers	HepG2	liver
39	chr2:78044000-78048800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:78044000-78050000	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links