Variant report

Variant	nsv469500
Chromosome Location	chr12:84473551-84760604
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	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	chr12:84735626-84735910	Hela-S3	cervix:	n/a	chr12:84735771-84735782
5	CEBPB	chr12:84508374-84508677	HepG2	liver:	n/a	chr12:84508538-84508549
6	CEBPB	chr12:84760167-84760367	K562	blood:	n/a	chr12:84760300-84760313 chr12:84760328-84760337 chr12:84760167-84760180 chr12:84760326-84760339 chr12:84760326-84760337 chr12:84760326-84760339
7	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
8	CEBPB	chr12:84754178-84754417	Hela-S3	cervix:	n/a	chr12:84754301-84754312
9	CEBPB	chr12:84754179-84754409	HepG2	liver:	n/a	chr12:84754301-84754312
10	CEBPB	chr12:84530683-84531231	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr12:84530968-84531251	A549	lung:	n/a	n/a
13	CEBPB	chr12:84530710-84531247	IMR90	lung:	n/a	n/a
14	CEBPB	chr12:84524869-84525284	IMR90	lung:	n/a	chr12:84525007-84525019
15	CEBPB	chr12:84705099-84705356	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:84735587-84735953	IMR90	lung:	n/a	chr12:84735771-84735782
17	CEBPB	chr12:84735641-84735936	H1-hESC	embryonic stem cell:	n/a	chr12:84735771-84735782
18	CEBPB	chr12:84735640-84735903	K562	blood:	n/a	chr12:84735771-84735782
19	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
20	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
21	CEBPB	chr12:84508382-84508565	H1-hESC	embryonic stem cell:	n/a	chr12:84508538-84508549
22	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr12:84530938-84531227	A549	lung:	n/a	n/a
24	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
25	CEBPB	chr12:84530794-84531271	A549	lung:	n/a	n/a
26	CEBPB	chr12:84612277-84612494	MCF-7	breast:	n/a	chr12:84612397-84612410
27	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
28	CEBPB	chr12:84735646-84735920	A549	lung:	n/a	chr12:84735771-84735782
29	CEBPB	chr12:84735633-84735950	HepG2	liver:	n/a	chr12:84735771-84735782
30	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
31	CEBPB	chr12:84497837-84498179	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
33	CHD2	chr12:84752859-84752895	HepG2	liver:	n/a	n/a
34	CTCF	chr12:84624160-84624310	NHEK	skin:	n/a	n/a
35	CTCF	chr12:84501460-84501610	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:84710253-84710334	GM20000	blood:	n/a	n/a
37	CTCF	chr12:84624200-84624350	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr12:84511860-84512010	MCF-7	breast:	n/a	n/a
39	CTCF	chr12:84501525-84501533	K562	blood:	n/a	n/a
40	CTCF	chr12:84555260-84555410	AG09319	gingival:	n/a	n/a
41	CTCF	chr12:84634420-84634570	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr12:84603895-84603920	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:84754129-84754162	GM20000	blood:	n/a	n/a
44	CTCF	chr12:84522089-84522142	GM20000	blood:	n/a	n/a
45	CTCF	chr12:84739454-84739538	GM13976	blood:	n/a	n/a
46	CTCF	chr12:84624160-84624310	HEK293	kidney:	n/a	n/a
47	CTCF	chr12:84566942-84567001	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:84634360-84634510	BJ	skin:	n/a	n/a
49	CTCF	chr12:84634200-84634350	AG04450	lung:	n/a	n/a
50	CTCF	chr12:84526120-84526270	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:84754965..84757723-chr12:84759689..84762304,2	MCF-7	breast:
2	chr12:84677376..84680215-chr12:84681765..84683893,2	K562	blood:
3	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
4	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
5	chr12:84754965..84757723-chr12:84759689..84762304,2	MCF-7	breast:
6	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
7	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
8	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
9	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
10	chr12:84520118..84522589-chr2:133488049..133489903,2	MCF-7	breast:
11	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
12	chr12:84615761..84617587-chr14:52985387..52988384,2	MCF-7	breast:
13	chr12:84600531..84602051-chr6:31495165..31496871,2	K562	blood:

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

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

Extended variants
information (count: 4115 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:4115 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11116192	chr12:84473551-84473552	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370321758	chr12:84473579-84473580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560770912	chr12:84473599-84473600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531362523	chr12:84473613-84473614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150154715	chr12:84473664-84473665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187986926	chr12:84473683-84473684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568060393	chr12:84473687-84473688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533401869	chr12:84473706-84473707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533689945	chr12:84473774-84473775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566997139	chr12:84473779-84473780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138818382	chr12:84473784-84473785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193046200	chr12:84473831-84473832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567871672	chr12:84473857-84473858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538009826	chr12:84473863-84473864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556864849	chr12:84473865-84473866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373746384	chr12:84474007-84474008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140555295	chr12:84474017-84474018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145635833	chr12:84474027-84474028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10862813	chr12:84474038-84474039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185116126	chr12:84474080-84474081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560601914	chr12:84474162-84474163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575878909	chr12:84474215-84474216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190362286	chr12:84474252-84474253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558487684	chr12:84474356-84474357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565216647	chr12:84474393-84474394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532282452	chr12:84474447-84474448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7960972	chr12:84474458-84474459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560493721	chr12:84474466-84474467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79969255	chr12:84474534-84474535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs41466449	chr12:84474552-84474553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138347656	chr12:84474564-84474565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114577534	chr12:84474609-84474610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550092167	chr12:84474618-84474619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149584384	chr12:84474619-84474620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538985824	chr12:84474683-84474684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12422984	chr12:84474686-84474687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144345920	chr12:84474695-84474696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114983238	chr12:84474718-84474719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535840997	chr12:84474739-84474740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117231475	chr12:84474778-84474779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74322085	chr12:84474885-84474886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181268558	chr12:84474908-84474909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564951802	chr12:84474943-84474944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188169570	chr12:84474995-84474996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148342881	chr12:84475031-84475032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184134122	chr12:84475040-84475041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377296850	chr12:84475050-84475051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187994283	chr12:84475057-84475058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549391750	chr12:84475078-84475079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561402915	chr12:84475091-84475092	Weak transcription	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:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84471400-84473600	Enhancers	NHDF-Ad	bronchial
2	chr12:84472600-84478800	Weak transcription	Fetal Heart	heart
3	chr12:84473200-84473600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:84473400-84473800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:84473400-84474200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:84478800-84479200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:84478800-84479400	Enhancers	Fetal Heart	heart
8	chr12:84479400-84495600	Weak transcription	Fetal Heart	heart
9	chr12:84485400-84486400	Enhancers	Esophagus	oesophagus
10	chr12:84485400-84486600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:84485600-84485800	ZNF genes & repeats	Pancreas	Pancrea
12	chr12:84486200-84491000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:84491000-84491600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:84496000-84496200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr12:84496000-84498000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr12:84497600-84498400	Enhancers	Hela-S3	cervix
17	chr12:84510400-84510800	Enhancers	A549	lung
18	chr12:84510800-84511000	Active TSS	A549	lung
19	chr12:84511000-84511200	Flanking Active TSS	A549	lung
20	chr12:84511200-84511400	Active TSS	A549	lung
21	chr12:84522000-84522600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:84522600-84523000	Active TSS	Spleen	Spleen
23	chr12:84524400-84526000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:84524600-84525400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:84524800-84526000	Enhancers	NHDF-Ad	bronchial
26	chr12:84525000-84525400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:84526000-84528600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:84526000-84530600	Weak transcription	NHDF-Ad	bronchial
29	chr12:84528600-84529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:84528800-84529000	Enhancers	NHEK	skin
31	chr12:84529000-84529800	Weak transcription	NHEK	skin
32	chr12:84529000-84530600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:84529400-84531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:84529400-84531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:84529600-84531200	Enhancers	Fetal Heart	heart
36	chr12:84529800-84531400	Enhancers	NHEK	skin
37	chr12:84530600-84531000	Enhancers	Hela-S3	cervix
38	chr12:84530600-84531200	Enhancers	NHDF-Ad	bronchial
39	chr12:84530600-84531400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:84530800-84531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:84531000-84535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:84535000-84535600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:84543800-84544200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:84543800-84544200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:84543800-84544600	Enhancers	NHEK	skin
46	chr12:84549200-84549400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:84549400-84550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:84549600-84551000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:84550400-84550600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:84551000-84552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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