Variant report

Variant	nsv559572
Chromosome Location	chr12:84470351-84716764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:638)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr12:84508374-84508677	HepG2	liver:	n/a	chr12:84508538-84508549
4	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
5	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
6	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr12:84508382-84508565	H1-hESC	embryonic stem cell:	n/a	chr12:84508538-84508549
9	CEBPB	chr12:84524869-84525284	IMR90	lung:	n/a	chr12:84525007-84525019
10	CEBPB	chr12:84612277-84612494	MCF-7	breast:	n/a	chr12:84612397-84612410
11	CEBPB	chr12:84612283-84612492	A549	lung:	n/a	chr12:84612397-84612410
12	CEBPB	chr12:84530968-84531251	A549	lung:	n/a	n/a
13	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
14	CEBPB	chr12:84497837-84498179	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
16	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
17	CEBPB	chr12:84530794-84531271	A549	lung:	n/a	n/a
18	CEBPB	chr12:84530710-84531247	IMR90	lung:	n/a	n/a
19	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr12:84530683-84531231	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:84705099-84705356	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
23	CEBPB	chr12:84530938-84531227	A549	lung:	n/a	n/a
24	CTCF	chr12:84529184-84529209	GM10248	blood:	n/a	n/a
25	CTCF	chr12:84501525-84501533	K562	blood:	n/a	n/a
26	CTCF	chr12:84501460-84501610	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:84623960-84624110	BE2_C	brain:	n/a	n/a
28	CTCF	chr12:84526120-84526270	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr12:84555260-84555410	AG09319	gingival:	n/a	n/a
30	CTCF	chr12:84555180-84555330	AG10803	skin:	n/a	n/a
31	CTCF	chr12:84497808-84497930	Lung_OC	lung:	n/a	n/a
32	CTCF	chr12:84634320-84634470	AG04450	lung:	n/a	n/a
33	CTCF	chr12:84501500-84501650	HMEC	breast:	n/a	n/a
34	CTCF	chr12:84710253-84710334	GM20000	blood:	n/a	n/a
35	CTCF	chr12:84634360-84634510	BJ	skin:	n/a	n/a
36	CTCF	chr12:84703841-84703893	ProgFib	skin:	n/a	n/a
37	CTCF	chr12:84634200-84634350	AG04450	lung:	n/a	n/a
38	CTCF	chr12:84624160-84624310	HEK293	kidney:	n/a	n/a
39	CTCF	chr12:84567817-84567880	Fibrobl	skin:	n/a	n/a
40	CTCF	chr12:84566972-84567047	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:84714532-84714576	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr12:84624200-84624350	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr12:84509040-84509190	BE2_C	brain:	n/a	n/a
44	CTCF	chr12:84548500-84548598	GM13976	blood:	n/a	n/a
45	CTCF	chr12:84509100-84509250	HMF	breast:	n/a	n/a
46	CTCF	chr12:84525980-84526130	AG10803	skin:	n/a	n/a
47	CTCF	chr12:84603895-84603920	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:84501379-84501589	LNCaP	prostate:	n/a	n/a
49	CTCF	chr12:84634360-84634510	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr12:84501515-84501558	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84600531..84602051-chr6:31495165..31496871,2	K562	blood:
2	chr12:84520118..84522589-chr2:133488049..133489903,2	MCF-7	breast:
3	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
4	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
5	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
6	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
7	chr12:84677376..84680215-chr12:84681765..84683893,2	K562	blood:
8	chr12:84463708..84466691-chr12:84469357..84472194,2	K562	blood:
9	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
10	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
11	chr12:84615761..84617587-chr14:52985387..52988384,2	MCF-7	breast:
12	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 3326 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:3326 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2128349	chr12:84470351-84470352	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368527682	chr12:84470471-84470472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534571830	chr12:84470555-84470556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78164201	chr12:84470558-84470559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538174420	chr12:84470637-84470638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373984437	chr12:84470642-84470643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568158096	chr12:84470657-84470658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34333594	chr12:84470666-84470667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535682074	chr12:84470671-84470672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398076806	chr12:84470675-84470676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398020387	chr12:84470676-84470677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118003165	chr12:84470677-84470678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189654564	chr12:84470689-84470690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7397233	chr12:84470694-84470695	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557989516	chr12:84470711-84470712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376292868	chr12:84470724-84470725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116224886	chr12:84470797-84470798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541410951	chr12:84470886-84470887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559457781	chr12:84470957-84470958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530121214	chr12:84470978-84470979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181556336	chr12:84470991-84470992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372162431	chr12:84471017-84471018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185006251	chr12:84471024-84471025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376557820	chr12:84471030-84471031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146320961	chr12:84471044-84471045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs68033053	chr12:84471064-84471065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528122834	chr12:84471092-84471093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200693698	chr12:84471118-84471119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546609632	chr12:84471126-84471127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138308199	chr12:84471128-84471129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542338708	chr12:84471147-84471148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189900520	chr12:84471196-84471197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181849738	chr12:84471319-84471320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186303813	chr12:84471327-84471328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12231662	chr12:84471359-84471360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557811789	chr12:84471365-84471366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573081215	chr12:84471398-84471399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534739992	chr12:84471427-84471428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs5799658	chr12:84471488-84471489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553336492	chr12:84471520-84471521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552930928	chr12:84471541-84471542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573034147	chr12:84471575-84471576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574466338	chr12:84471576-84471577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376911208	chr12:84471709-84471710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541938733	chr12:84471733-84471734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563403848	chr12:84471744-84471745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78126877	chr12:84471750-84471751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546375630	chr12:84471781-84471782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564667697	chr12:84471869-84471870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143005844	chr12:84471883-84471884	Weak transcription Enhancers	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84465600-84473200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:84468200-84471200	Weak transcription	Fetal Heart	heart
3	chr12:84469400-84473000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:84469600-84471000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:84470800-84471200	Enhancers	Fetal Stomach	stomach
6	chr12:84470800-84472200	Enhancers	Fetal Lung	lung
7	chr12:84471000-84473000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:84471200-84472600	Enhancers	Fetal Heart	heart
9	chr12:84471400-84473600	Enhancers	NHDF-Ad	bronchial
10	chr12:84472600-84478800	Weak transcription	Fetal Heart	heart
11	chr12:84473000-84473400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:84473000-84473400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:84473200-84473600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:84473400-84473800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:84473400-84474200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:84478800-84479200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:84478800-84479400	Enhancers	Fetal Heart	heart
18	chr12:84479400-84495600	Weak transcription	Fetal Heart	heart
19	chr12:84485400-84486400	Enhancers	Esophagus	oesophagus
20	chr12:84485400-84486600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:84485600-84485800	ZNF genes & repeats	Pancreas	Pancrea
22	chr12:84486200-84491000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:84491000-84491600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:84496000-84496200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr12:84496000-84498000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr12:84497600-84498400	Enhancers	Hela-S3	cervix
27	chr12:84510400-84510800	Enhancers	A549	lung
28	chr12:84510800-84511000	Active TSS	A549	lung
29	chr12:84511000-84511200	Flanking Active TSS	A549	lung
30	chr12:84511200-84511400	Active TSS	A549	lung
31	chr12:84522000-84522600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:84522600-84523000	Active TSS	Spleen	Spleen
33	chr12:84524400-84526000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:84524600-84525400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr12:84524800-84526000	Enhancers	NHDF-Ad	bronchial
36	chr12:84525000-84525400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:84526000-84528600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:84526000-84530600	Weak transcription	NHDF-Ad	bronchial
39	chr12:84528600-84529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:84528800-84529000	Enhancers	NHEK	skin
41	chr12:84529000-84529800	Weak transcription	NHEK	skin
42	chr12:84529000-84530600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:84529400-84531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:84529400-84531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:84529600-84531200	Enhancers	Fetal Heart	heart
46	chr12:84529800-84531400	Enhancers	NHEK	skin
47	chr12:84530600-84531000	Enhancers	Hela-S3	cervix
48	chr12:84530600-84531200	Enhancers	NHDF-Ad	bronchial
49	chr12:84530600-84531400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:84530800-84531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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