Variant report

Variant	nsv899370
Chromosome Location	chr12:84571480-84729668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:260)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:84666195-84666238	K562	blood:	n/a	n/a
2	BACH1	chr12:84703758-84703952	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:84612283-84612492	A549	lung:	n/a	chr12:84612397-84612410
4	CEBPB	chr12:84612277-84612494	MCF-7	breast:	n/a	chr12:84612397-84612410
5	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
6	CEBPB	chr12:84705099-84705356	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
8	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
9	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
10	CTCF	chr12:84634320-84634470	AG04450	lung:	n/a	n/a
11	CTCF	chr12:84624160-84624310	NHEK	skin:	n/a	n/a
12	CTCF	chr12:84710253-84710334	GM20000	blood:	n/a	n/a
13	CTCF	chr12:84574150-84574183	Lung_OC	lung:	n/a	n/a
14	CTCF	chr12:84623960-84624110	BE2_C	brain:	n/a	n/a
15	CTCF	chr12:84624160-84624310	HEK293	kidney:	n/a	n/a
16	CTCF	chr12:84634420-84634570	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr12:84714532-84714576	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr12:84634360-84634510	BJ	skin:	n/a	n/a
19	CTCF	chr12:84624180-84624330	HepG2	liver:	n/a	n/a
20	CTCF	chr12:84665861-84665952	LNCaP	prostate:	n/a	n/a
21	CTCF	chr12:84673641-84673724	GM13976	blood:	n/a	n/a
22	CTCF	chr12:84703860-84704010	NHEK	skin:	n/a	n/a
23	CTCF	chr12:84634360-84634510	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr12:84703841-84703893	ProgFib	skin:	n/a	n/a
25	CTCF	chr12:84603895-84603920	MCF-7	breast:	n/a	n/a
26	CTCF	chr12:84624200-84624350	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr12:84634200-84634350	AG04450	lung:	n/a	n/a
28	E2F4	chr12:84678379-84678757	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr12:84639403-84639705	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr12:84638352-84638508	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr12:84692780-84693064	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr12:84571702-84571850	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr12:84716836-84717036	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr12:84583913-84583956	MCF10A-Er-Src	breast:	n/a	n/a
35	EBF1	chr12:84625003-84625201	GM12878	blood:	n/a	chr12:84625120-84625131
36	EGR1	chr12:84667641-84667740	GM12878	blood:	n/a	n/a
37	EP300	chr12:84688388-84688862	SK-N-SH_RA	brain:	n/a	chr12:84688689-84688703
38	EP300	chr12:84579835-84580754	SK-N-SH	brain:	n/a	n/a
39	EP300	chr12:84579885-84580873	SK-N-SH	brain:	n/a	n/a
40	EP300	chr12:84584808-84585103	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr12:84688036-84688368	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr12:84669804-84670621	SK-N-SH	brain:	n/a	n/a
43	EP300	chr12:84688443-84688743	SK-N-SH_RA	brain:	n/a	chr12:84688689-84688703
44	EP300	chr12:84684434-84684790	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr12:84709699-84710389	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr12:84709711-84710029	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr12:84669792-84670572	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr12:84696485-84696907	SK-N-SH	brain:	n/a	n/a
49	EP300	chr12:84579907-84580671	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr12:84669800-84670458	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84615761..84617587-chr14:52985387..52988384,2	MCF-7	breast:
2	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
3	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
4	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
5	chr12:84600531..84602051-chr6:31495165..31496871,2	K562	blood:
6	chr12:84677376..84680215-chr12:84681765..84683893,2	K562	blood:
7	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
8	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
9	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRIQ1-2	chr12:84678170-84678273	ENSG00000257729
2	lnc-LRRIQ1-2	chr12:84665119-84665185	ENSG00000257729
3	lnc-LRRIQ1-2	chr12:84688089-84688341	ENSG00000257729
4	lnc-LRRIQ1-2	chr12:84687707-84687920	ENSG00000257729
5	lnc-LRRIQ1-2	chr12:84688089-84688335	ENSG00000257729

No data

Variant related genes	Relation type
ENSG00000221148	TF binding region
ENSG00000257729	TF binding region
ENSG00000257729	chromatin interactions
ENSG00000204511	chromatin interactions
ENSG00000225499	chromatin interactions

Extended variants
information (count: 1647 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578158047	chr12:84577011-84577012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545448983	chr12:84577117-84577118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554107672	chr12:84577151-84577152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35772242	chr12:84577190-84577191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397792860	chr12:84577191-84577192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543173141	chr12:84577227-84577228	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562032232	chr12:84577230-84577231	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs78719506	chr12:84577238-84577239	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs76797147	chr12:84577239-84577240	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542998380	chr12:84577320-84577321	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141549387	chr12:84577358-84577359	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531846964	chr12:84577367-84577368	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543019843	chr12:84577433-84577434	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564513580	chr12:84577447-84577448	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532125299	chr12:84577450-84577451	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs190069027	chr12:84577470-84577471	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75887734	chr12:84577479-84577480	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs138689230	chr12:84577494-84577495	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548035429	chr12:84577496-84577497	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569968504	chr12:84577500-84577501	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573826112	chr12:84577511-84577512	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537313300	chr12:84577512-84577513	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556611721	chr12:84577529-84577530	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571653762	chr12:84577537-84577538	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs142694563	chr12:84577565-84577566	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs554237612	chr12:84577586-84577587	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572592799	chr12:84577598-84577599	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536865772	chr12:84577638-84577639	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs183041951	chr12:84577679-84577680	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576351884	chr12:84577712-84577713	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147386595	chr12:84577713-84577714	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187678361	chr12:84577748-84577749	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192395137	chr12:84577791-84577792	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561170139	chr12:84577797-84577798	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183909271	chr12:84577817-84577818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs1482439	chr12:84577829-84577830	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs529707901	chr12:84577860-84577861	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139545164	chr12:84577874-84577875	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372832099	chr12:84577886-84577887	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs112478047	chr12:84577894-84577895	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs34754631	chr12:84577896-84577897	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs530859152	chr12:84577908-84577909	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs552479881	chr12:84577973-84577974	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563723246	chr12:84578009-84578010	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571599415	chr12:84578061-84578062	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs560651714	chr12:84578062-84578063	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549906042	chr12:84578075-84578076	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144011610	chr12:84578088-84578089	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1482438	chr12:84578089-84578090	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4441093	chr12:84578130-84578131	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84577000-84577200	Enhancers	Fetal Heart	heart
2	chr12:84577000-84578000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:84577000-84578000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:84577000-84578000	Enhancers	NHEK	skin
5	chr12:84577000-84578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:84577200-84578000	Flanking Active TSS	Fetal Heart	heart
7	chr12:84578000-84579000	Active TSS	Fetal Heart	heart
8	chr12:84578000-84585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:84585200-84586400	Enhancers	HMEC	breast
10	chr12:84585600-84586400	Enhancers	NHEK	skin
11	chr12:84585800-84586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:84605400-84605800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:84653800-84654000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr12:84654000-84655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:84655000-84655800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:84658400-84658800	Enhancers	Fetal Brain Male	brain
17	chr12:84658800-84659200	Weak transcription	Fetal Brain Male	brain
18	chr12:84659200-84659800	Enhancers	Fetal Brain Male	brain
19	chr12:84662200-84664000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:84663800-84664200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr12:84663800-84664400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr12:84663800-84665200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr12:84664000-84664200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:84664000-84664400	Enhancers	NHEK	skin
25	chr12:84664000-84664600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:84664000-84665400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:84664200-84664400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:84664200-84664400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr12:84664200-84664800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:84664200-84664800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr12:84664200-84664800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:84664200-84665000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr12:84664200-84665000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:84664400-84664800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr12:84664400-84664800	Flanking Active TSS	NHEK	skin
36	chr12:84664400-84665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:84664600-84664800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
38	chr12:84664600-84664800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr12:84664600-84664800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:84664600-84665000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:84664600-84665000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr12:84664800-84665000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr12:84664800-84665000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:84664800-84665200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
45	chr12:84664800-84665200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr12:84664800-84665200	Enhancers	NHEK	skin
47	chr12:84665000-84665200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr12:84665000-84665200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:84665200-84670000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:84670000-84670200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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