Variant report

Variant	nsv582268
Chromosome Location	chr2:78301575-78332806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:78331500-78331650	GM12871	blood:	n/a	n/a
2	CTCF	chr2:78322214-78322321	GM13976	blood:	n/a	n/a
3	CTCF	chr2:78323095-78323157	GM20000	blood:	n/a	n/a
4	CTCF	chr2:78331460-78331610	HepG2	liver:	n/a	n/a
5	CTCF	chr2:78331400-78331550	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr2:78304009-78304061	GM10248	blood:	n/a	n/a
7	E2F4	chr2:78330333-78330557	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA3	chr2:78322566-78322766	SH-SY5Y	brain:	n/a	chr2:78322669-78322680
9	GATA3	chr2:78301042-78301586	SH-SY5Y	brain:	n/a	n/a
10	JUND	chr2:78305381-78305437	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFK	chr2:78311713-78311875	HepG2	liver:	n/a	n/a
12	MAFK	chr2:78304776-78304979	HepG2	liver:	n/a	chr2:78304884-78304904
13	MAFK	chr2:78315016-78315084	HepG2	liver:	n/a	n/a
14	MAFK	chr2:78324599-78324903	HepG2	liver:	n/a	chr2:78324761-78324778
15	MAFK	chr2:78304747-78305031	HepG2	liver:	n/a	chr2:78304884-78304904
16	MAX	chr2:78318863-78318923	HepG2	liver:	n/a	n/a
17	MAZ	chr2:78327743-78327759	HepG2	liver:	n/a	n/a
18	MYC	chr2:78323053-78323108	MCF-7	breast:	n/a	n/a
19	MYC	chr2:78314585-78314763	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr2:78325055-78325070	MCF10A-Er-Src	breast:	n/a	n/a
21	NFYB	chr2:78306769-78306952	GM12878	blood:	n/a	n/a
22	NRF1	chr2:78310947-78310949	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:78322913-78323142	A549	lung:	n/a	n/a
24	POLR2A	chr2:78331056-78331205	A549	lung:	n/a	n/a
25	POLR2A	chr2:78331394-78331427	Gliobla	brain:	n/a	n/a
26	POLR2A	chr2:78310520-78310704	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr2:78320602-78321015	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr2:78309711-78310050	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr2:78330021-78330170	MCF10A-Er-Src	breast:	n/a	n/a
30	REST	chr2:78320391-78321301	H1-neurons	neurons:	n/a	n/a
31	REST	chr2:78320580-78321150	H1-neurons	neurons:	n/a	n/a
32	STAT3	chr2:78319208-78319660	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr2:78312742-78312942	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr2:78311665-78311983	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr2:78314228-78314498	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr2:78318108-78318121	MCF10A-Er-Src	breast:	n/a	n/a
37	USF2	chr2:78315890-78315929	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:78326493..78328202-chr2:78333273..78335963,2	K562	blood:
2	chr2:78300847..78302731-chr2:78308537..78310502,2	K562	blood:
3	chr2:78295743..78297764-chr2:78300068..78303067,2	K562	blood:
4	chr2:78300847..78302731-chr2:78308537..78310502,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-3	chr2:78320703-78320792	XLOC_001543
2	lnc-REG3G-3	chr2:78321763-78321902	XLOC_001543
3	lnc-REG3G-3	chr2:78322790-78322968	XLOC_001543

No data

Variant related genes	Relation type
ENSG00000229494	TF binding region

Extended variants
information (count: 515 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13388243	chr2:78301575-78301576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565158173	chr2:78301583-78301584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183883225	chr2:78301592-78301593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111762498	chr2:78301602-78301603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146099464	chr2:78301618-78301619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188951612	chr2:78301619-78301620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116323082	chr2:78301636-78301637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78893722	chr2:78301690-78301691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566220837	chr2:78301724-78301725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148742446	chr2:78301826-78301827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10182886	chr2:78301879-78301880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538108089	chr2:78301890-78301891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568775460	chr2:78301898-78301899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571193174	chr2:78301902-78301903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549644740	chr2:78301918-78301919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557770665	chr2:78301936-78301937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577912045	chr2:78301940-78301941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142305648	chr2:78301997-78301998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569683536	chr2:78302014-78302015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571254999	chr2:78302021-78302022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568709079	chr2:78302027-78302028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536101419	chr2:78302064-78302065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60360882	chr2:78302071-78302072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543167273	chr2:78302087-78302088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562867216	chr2:78302088-78302089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373415180	chr2:78302095-78302096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545636559	chr2:78302119-78302120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191920209	chr2:78302128-78302129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528021646	chr2:78302134-78302135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139240425	chr2:78302137-78302138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561176031	chr2:78302149-78302150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528919665	chr2:78302150-78302151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11403676	chr2:78302170-78302171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4853371	chr2:78302189-78302190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2164851	chr2:78302215-78302216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs537436644	chr2:78302251-78302252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538437129	chr2:78302278-78302279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571435679	chr2:78302367-78302368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566825569	chr2:78302373-78302374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77390508	chr2:78302386-78302387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535789239	chr2:78302400-78302401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534107060	chr2:78302406-78302407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553983108	chr2:78302447-78302448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145681502	chr2:78302475-78302476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576997036	chr2:78302492-78302493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577429788	chr2:78302504-78302505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543911460	chr2:78302508-78302509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117389037	chr2:78302520-78302521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147741448	chr2:78302548-78302549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185254194	chr2:78302574-78302575	Weak transcription	n/a	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78296200-78305400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:78301200-78306400	Weak transcription	HepG2	liver
3	chr2:78303600-78305600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:78304600-78305600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:78305000-78305200	Enhancers	Brain Substantia Nigra	brain
6	chr2:78305000-78305400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:78305000-78305400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:78305000-78306800	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:78305200-78306000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:78305400-78306200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:78305400-78306600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:78305800-78306800	Enhancers	Brain Hippocampus Middle	brain
13	chr2:78306000-78306400	Enhancers	Brain Substantia Nigra	brain
14	chr2:78306800-78307000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:78309800-78311200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:78322800-78324000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:78324000-78324200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
18	chr2:78326200-78326800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:78330200-78332400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:78330600-78331600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:78331000-78331600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:78331600-78332800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:78332800-78333600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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