Variant report

Variant	nsv3142
Chromosome Location	chr2:210660150-210705006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:201)
CpG islands
(count:919)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:210682573-210682990	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:210696344-210696356	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr2:210667832-210668072	K562	blood:	n/a	n/a
4	CEBPB	chr2:210660712-210660933	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:210686694-210686829	A549	lung:	n/a	chr2:210686728-210686741
6	CEBPB	chr2:210698847-210699119	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:210660707-210660907	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:210691480-210691504	HepG2	liver:	n/a	n/a
9	CHD1	chr2:210701002-210701011	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr2:210660660-210660810	HL-60	blood:	n/a	n/a
11	CTCF	chr2:210660720-210660870	GM12878	blood:	n/a	n/a
12	CTCF	chr2:210660641-210660982	HepG2	liver:	n/a	n/a
13	CTCF	chr2:210660740-210660890	GM12864	blood:	n/a	n/a
14	CTCF	chr2:210660736-210660920	NHEK	skin:	n/a	n/a
15	CTCF	chr2:210660740-210660890	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr2:210660760-210660910	HPF	lung:	n/a	n/a
17	CTCF	chr2:210660740-210660890	GM12878	blood:	n/a	n/a
18	CTCF	chr2:210660800-210660950	HAc	cerebellar:	n/a	n/a
19	CTCF	chr2:210660800-210660950	NB4	blood:	n/a	n/a
20	CTCF	chr2:210660800-210660950	GM12868	blood:	n/a	n/a
21	CTCF	chr2:210660727-210660936	HepG2	liver:	n/a	n/a
22	CTCF	chr2:210660720-210660970	NHEK	skin:	n/a	n/a
23	CTCF	chr2:210660700-210660850	GM12864	blood:	n/a	n/a
24	CTCF	chr2:210660732-210660902	GM19240	blood:	n/a	n/a
25	CTCF	chr2:210660700-210660850	GM12870	blood:	n/a	n/a
26	CTCF	chr2:210660940-210661090	GM12864	blood:	n/a	n/a
27	CTCF	chr2:210660740-210660890	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr2:210660757-210660901	LNCaP	prostate:	n/a	n/a
29	CTCF	chr2:210660740-210660890	HCFaa	heart:	n/a	n/a
30	CTCF	chr2:210660730-210660912	GM12892	blood:	n/a	n/a
31	CTCF	chr2:210660760-210660910	HMEC	breast:	n/a	n/a
32	CTCF	chr2:210660680-210660830	RPTEC	kidney:	n/a	n/a
33	CTCF	chr2:210660760-210660910	GM12874	blood:	n/a	n/a
34	CTCF	chr2:210660660-210660810	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr2:210660700-210660850	GM12867	blood:	n/a	n/a
36	CTCF	chr2:210660796-210660883	GM13977	blood:	n/a	n/a
37	CTCF	chr2:210660680-210660830	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr2:210660740-210660890	HepG2	liver:	n/a	n/a
39	CTCF	chr2:210660765-210660894	GM19239	blood:	n/a	n/a
40	CTCF	chr2:210660740-210660890	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr2:210660740-210660890	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr2:210660780-210660930	GM06990	blood:	n/a	n/a
43	CTCF	chr2:210660780-210660930	BE2_C	brain:	n/a	n/a
44	CTCF	chr2:210660760-210660910	MCF-7	breast:	n/a	n/a
45	CTCF	chr2:210660774-210660880	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr2:210660720-210660870	HEK293	kidney:	n/a	n/a
47	CTCF	chr2:210660800-210660950	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr2:210660720-210660870	GM12873	blood:	n/a	n/a
49	CTCF	chr2:210660780-210660930	GM12871	blood:	n/a	n/a
50	CTCF	chr2:210660740-210660890	K562	blood:	n/a	n/a

(count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:210674064-210674114	U87	brain:	n/a
2	chr2:210674029-210674079	HRPEpiC	eye:	n/a
3	chr2:210675091-210675141	MCF-7	breast:	n/a
4	chr2:210682860-210682910	A549	lung:	n/a
5	chr2:210674064-210674114	U87	brain:	n/a
6	chr2:210674029-210674079	HRPEpiC	eye:	n/a
7	chr2:210675091-210675141	MCF-7	breast:	n/a
8	chr2:210682860-210682910	A549	lung:	n/a
9	chr2:210676351-210676401	AG04450	lung:	fetal
10	chr2:210674029-210674079	SAEC	small airway:	n/a
11	chr2:210674064-210674114	Hela-S3	cervix:	n/a
12	chr2:210675440-210675490	AoSMC	blood vessel:	n/a
13	chr2:210673437-210673487	SK-N-SH_RA	brain:	n/a
14	chr2:210674232-210674282	PrEC	prostate:	n/a
15	chr2:210674064-210674114	HNPCEpiC	eye:	n/a
16	chr2:210669575-210669625	HMEC	breast:	n/a
17	chr2:210674163-210674213	ECC-1	luminal epithelium:	n/a
18	chr2:210669575-210669625	IMR90	lung:	fetal
19	chr2:210676351-210676401	HEK293	kidney:	embryo
20	chr2:210675091-210675141	LNCaP	prostate:	n/a
21	chr2:210673437-210673487	BJ	skin:	n/a
22	chr2:210673545-210673595	HCT-116	colon:	n/a
23	chr2:210674232-210674282	SK-N-SH_RA	brain:	n/a
24	chr2:210675091-210675141	HCPEpiC	choroid plexus:	n/a
25	chr2:210673274-210673324	HCM	heart:	n/a
26	chr2:210676351-210676401	SK-N-SH_RA	brain:	n/a
27	chr2:210669575-210669625	NH-A	brain:	n/a
28	chr2:210673274-210673324	T-47D	breast:	n/a
29	chr2:210674064-210674114	MCF-7	breast:	n/a
30	chr2:210673311-210673361	GM12892	blood:	n/a
31	chr2:210673311-210673361	HIPEpiC	eye:	n/a
32	chr2:210675440-210675490	HNPCEpiC	eye:	n/a
33	chr2:210673437-210673487	AG04449	skin:	fetal
34	chr2:210673825-210673875	HCF	heart:	n/a
35	chr2:210673274-210673324	HMEC	breast:	n/a
36	chr2:210672739-210672789	HCPEpiC	choroid plexus:	n/a
37	chr2:210673311-210673361	T-47D	breast:	n/a
38	chr2:210674064-210674114	HCM	heart:	n/a
39	chr2:210674029-210674079	HCM	heart:	n/a
40	chr2:210673311-210673361	NHDF-neo	bronchial:	n/a
41	chr2:210673437-210673487	HEEpiC	esophagus:	n/a
42	chr2:210672739-210672789	HCM	heart:	n/a
43	chr2:210673825-210673875	NB4	blood:	n/a
44	chr2:210672739-210672789	NHBE	bronchial:	n/a
45	chr2:210674163-210674213	NH-A	brain:	n/a
46	chr2:210674029-210674079	NB4	blood:	n/a
47	chr2:210674064-210674114	LNCaP	prostate:	n/a
48	chr2:210676351-210676401	RPTEC	kidney:	n/a
49	chr2:210673274-210673324	RPTEC	kidney:	n/a
50	chr2:210674163-210674213	Hela-S3	cervix:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:210687093..210688593-chr7:1589229..1590849,2	MCF-7	breast:
2	chr2:210686415..210689045-chr2:210704014..210706614,2	MCF-7	breast:
3	chr2:210686415..210689045-chr2:210704014..210706614,2	MCF-7	breast:
4	chr1:149858145..149859941-chr2:210667352..210669093,2	MCF-7	breast:
5	chr2:210565316..210567066-chr2:210695462..210698010,2	K562	blood:

No data

Variant related genes	Relation type
UNC80	TF binding region
SNAI1P1	TF binding region
UNC80	CpG island
SNAI1P1	CpG island
ENSG00000164855	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000184678	chromatin interactions

Extended variants
information (count: 1569 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1569 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528346343	chr2:210660183-210660184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576665269	chr2:210660207-210660208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142746835	chr2:210660249-210660250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570716779	chr2:210660255-210660256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186565973	chr2:210660268-210660269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192508729	chr2:210660269-210660270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2098204	chr2:210660273-210660274	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570304264	chr2:210660277-210660278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373959814	chr2:210660312-210660313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549729005	chr2:210660314-210660315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115718449	chr2:210660350-210660351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542599499	chr2:210660351-210660352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561135695	chr2:210660366-210660367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534963275	chr2:210660376-210660377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61209251	chr2:210660385-210660386	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372060733	chr2:210660390-210660391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577560374	chr2:210660427-210660428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536788684	chr2:210660463-210660464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183676553	chr2:210660468-210660469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374801375	chr2:210660518-210660519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564992238	chr2:210660523-210660524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532270769	chr2:210660586-210660587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375032715	chr2:210660651-210660652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376327502	chr2:210660659-210660660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550576455	chr2:210660717-210660718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559248528	chr2:210660718-210660719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573101880	chr2:210660725-210660726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544928010	chr2:210660759-210660760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189015461	chr2:210660766-210660767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57305145	chr2:210660787-210660788	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550334335	chr2:210660792-210660793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563753857	chr2:210660803-210660804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561066449	chr2:210660833-210660834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192995483	chr2:210660835-210660836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549560613	chr2:210660849-210660850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566091907	chr2:210660879-210660880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535373048	chr2:210660930-210660931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185191684	chr2:210660981-210660982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570943450	chr2:210660989-210660990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373452001	chr2:210660998-210660999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188807971	chr2:210661026-210661027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573417190	chr2:210661028-210661029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191657644	chr2:210661065-210661066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183870127	chr2:210661079-210661080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567808055	chr2:210661080-210661081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57990979	chr2:210661168-210661169	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34065622	chr2:210661175-210661176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4673487	chr2:210661179-210661180	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139013594	chr2:210661214-210661215	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs149463774	chr2:210661232-210661233	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210638200-210661400	Weak transcription	Fetal Brain Female	brain
2	chr2:210651200-210662000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:210652200-210685000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:210652400-210681000	Weak transcription	Brain Anterior Caudate	brain
5	chr2:210652800-210660200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:210655200-210660800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:210656200-210660200	Weak transcription	Brain Germinal Matrix	brain
8	chr2:210656400-210660800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:210657000-210660200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:210659400-210663400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:210660200-210661200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:210660200-210661200	Strong transcription	Brain Germinal Matrix	brain
13	chr2:210660200-210662200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:210660800-210662400	Strong transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:210660800-210662600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:210661200-210662200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr2:210661200-210671000	Weak transcription	Brain Germinal Matrix	brain
18	chr2:210661400-210661800	Strong transcription	Fetal Brain Female	brain
19	chr2:210661800-210663000	Weak transcription	Fetal Brain Female	brain
20	chr2:210662200-210664000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:210662400-210663800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:210662600-210670800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:210664600-210664800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr2:210664800-210665600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:210665600-210665800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr2:210665800-210681800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:210666000-210671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:210666400-210670800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:210667400-210667600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:210667600-210678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:210670200-210670400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:210670800-210671600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:210670800-210671800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:210671000-210671600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:210671000-210671600	Enhancers	Brain Germinal Matrix	brain
36	chr2:210671000-210671800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:210671200-210671400	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:210671200-210671400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:210671200-210671600	Enhancers	Fetal Heart	heart
40	chr2:210671200-210673600	Weak transcription	Fetal Brain Female	brain
41	chr2:210671400-210681200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:210671400-210682400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:210671600-210673200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:210671600-210673600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:210671600-210673800	Weak transcription	Brain Germinal Matrix	brain
46	chr2:210671800-210673600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:210673200-210674400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:210673400-210674200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:210673400-210674400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr2:210673400-210674800	ZNF genes & repeats	Fetal Stomach	stomach

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