Variant report

Variant	nsv455728
Chromosome Location	chr12:120355563-120396295
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	ARID3A	chr12:120375926-120376099	K562	blood:	n/a	n/a
2	ARID3A	chr12:120378632-120379155	HepG2	liver:	n/a	n/a
3	ATF1	chr12:120372736-120372814	K562	blood:	n/a	n/a
4	ATF3	chr12:120378664-120379412	A549	lung:	n/a	n/a
5	ATF3	chr12:120378609-120379440	A549	lung:	n/a	n/a
6	BACH1	chr12:120393976-120394069	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr12:120363172-120363430	GM12878	blood:	n/a	chr12:120363270-120363281 chr12:120363251-120363262
8	BCL3	chr12:120378622-120379141	A549	lung:	n/a	n/a
9	BCL3	chr12:120378604-120379161	A549	lung:	n/a	n/a
10	BHLHE40	chr12:120375994-120376094	K562	blood:	n/a	n/a
11	BHLHE40	chr12:120372597-120372759	K562	blood:	n/a	n/a
12	BHLHE40	chr12:120375919-120376174	GM12878	blood:	n/a	n/a
13	CBX3	chr12:120378487-120379114	HCT-116	colon:	n/a	n/a
14	CBX3	chr12:120394885-120395412	HCT-116	colon:	n/a	n/a
15	CBX3	chr12:120378624-120379099	HCT-116	colon:	n/a	n/a
16	CEBPB	chr12:120357866-120358211	A549	lung:	n/a	chr12:120358037-120358048
17	CEBPB	chr12:120357866-120358185	HepG2	liver:	n/a	chr12:120358037-120358048
18	CEBPB	chr12:120373748-120374019	K562	blood:	n/a	n/a
19	CEBPB	chr12:120371327-120371339	K562	blood:	n/a	n/a
20	CEBPB	chr12:120357853-120358172	MCF-7	breast:	n/a	chr12:120358037-120358048
21	CEBPB	chr12:120371194-120371386	HepG2	liver:	n/a	chr12:120371322-120371333
22	CEBPB	chr12:120371241-120371425	MCF-7	breast:	n/a	chr12:120371322-120371333
23	CEBPB	chr12:120378346-120379123	A549	lung:	n/a	n/a
24	CEBPB	chr12:120357816-120358211	A549	lung:	n/a	chr12:120358037-120358048
25	CEBPB	chr12:120378319-120378598	K562	blood:	n/a	n/a
26	CEBPB	chr12:120357938-120358165	K562	blood:	n/a	chr12:120358037-120358048
27	CEBPB	chr12:120378284-120378580	K562	blood:	n/a	n/a
28	CEBPB	chr12:120357869-120358209	IMR90	lung:	n/a	chr12:120358037-120358048
29	CEBPB	chr12:120378791-120379021	A549	lung:	n/a	n/a
30	CHD2	chr12:120372557-120372865	K562	blood:	n/a	n/a
31	CHD2	chr12:120378804-120379018	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr12:120376540-120376690	WI-38	lung:	n/a	n/a
33	CTCF	chr12:120375919-120376169	Gliobla	brain:	n/a	chr12:120376037-120376050 chr12:120376038-120376048 chr12:120376035-120376053 chr12:120376030-120376051
34	CTCF	chr12:120366811-120366918	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:120376860-120377010	NB4	blood:	n/a	n/a
36	CTCF	chr12:120375980-120376130	HCM	heart:	n/a	chr12:120376037-120376050 chr12:120376038-120376048 chr12:120376035-120376053 chr12:120376030-120376051
37	CTCF	chr12:120376207-120376214	Medullo	brain:	n/a	n/a
38	CTCF	chr12:120376269-120376402	GM12878	blood:	n/a	n/a
39	CTCF	chr12:120376267-120376395	GM10266	blood:	n/a	n/a
40	CTCF	chr12:120375922-120376178	Pancreas_OC	pancreas:	n/a	chr12:120376037-120376050 chr12:120376038-120376048 chr12:120376035-120376053 chr12:120376030-120376051
41	CTCF	chr12:120393940-120394090	SAEC	small airway:	n/a	n/a
42	CTCF	chr12:120376000-120376150	NHEK	skin:	n/a	chr12:120376037-120376050 chr12:120376038-120376048 chr12:120376035-120376053 chr12:120376030-120376051
43	CTCF	chr12:120375777-120376341	K562	blood:	n/a	chr12:120376037-120376050 chr12:120376038-120376048 chr12:120376035-120376053 chr12:120376030-120376051
44	CTCF	chr12:120375980-120376130	GM12867	blood:	n/a	chr12:120376037-120376050 chr12:120376038-120376048 chr12:120376035-120376053 chr12:120376030-120376051
45	CTCF	chr12:120375953-120376152	GM13976	blood:	n/a	chr12:120376037-120376050 chr12:120376038-120376048 chr12:120376035-120376053 chr12:120376030-120376051
46	CTCF	chr12:120393840-120393865	LNCaP	prostate:	n/a	n/a
47	CTCF	chr12:120375960-120376110	GM12878	blood:	n/a	chr12:120376037-120376050 chr12:120376038-120376048 chr12:120376035-120376053 chr12:120376030-120376051
48	CTCF	chr12:120366804-120366854	GM12878	blood:	n/a	n/a
49	CTCF	chr12:120376800-120376950	HCM	heart:	n/a	n/a
50	CTCF	chr12:120375920-120376070	HCM	heart:	n/a	chr12:120376037-120376050 chr12:120376038-120376048 chr12:120376035-120376053 chr12:120376030-120376051

No.	Distal block	Cell Line	Cell type
1	chr12:120367405..120370394-chr12:120371016..120373201,2	K562	blood:
2	chr12:120382726..120385233-chr12:120390460..120392501,2	MCF-7	breast:
3	chr12:120378947..120381276-chr12:120381985..120383684,2	MCF-7	breast:
4	chr12:120378824..120381346-chr12:120729788..120731312,2	MCF-7	breast:
5	chr12:120378947..120381276-chr12:120381985..120383684,2	MCF-7	breast:
6	chr12:120376974..120380203-chr12:120515998..120518791,3	MCF-7	breast:
7	chr12:120382726..120385233-chr12:120390460..120392501,2	MCF-7	breast:
8	chr12:120375794..120377491-chr12:120554770..120557327,2	MCF-7	breast:
9	chr12:120375923..120377476-chr12:120425555..120428485,2	MCF-7	breast:
10	chr12:120367405..120370394-chr12:120371016..120373201,2	K562	blood:
11	chr12:120364509..120367078-chr12:120552925..120555648,3	MCF-7	breast:
12	chr12:120087186..120087732-chr12:120375949..120376907,2	K562	blood:
13	chr12:120378840..120380961-chr12:120385159..120388054,2	MCF-7	breast:
14	chr12:120376864..120378472-chr12:120729322..120731288,2	MCF-7	breast:
15	chr12:120378840..120380961-chr12:120385159..120388054,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC64-2	chr12:120377270-120377404	NONHSAT031098

Variant related genes	Relation type
RPL35AP30	TF binding region
ENSG00000135127	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000111737	chromatin interactions

Extended variants
information (count: 826 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7964822	chr12:120355563-120355564	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117964214	chr12:120355575-120355576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78916483	chr12:120355582-120355583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577914104	chr12:120355590-120355591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373532466	chr12:120355593-120355594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540145606	chr12:120355600-120355601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7299389	chr12:120355615-120355616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111815527	chr12:120355709-120355710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573508137	chr12:120355746-120355747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533200430	chr12:120355748-120355749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543698021	chr12:120355749-120355750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367974511	chr12:120355758-120355759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59248527	chr12:120355816-120355817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372530874	chr12:120355864-120355865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547540575	chr12:120355881-120355882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58895334	chr12:120355926-120355927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193276093	chr12:120355958-120355959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375503742	chr12:120356007-120356008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368916153	chr12:120356065-120356066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563575256	chr12:120356083-120356084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372215414	chr12:120356098-120356099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60800586	chr12:120356162-120356163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61380801	chr12:120356187-120356188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28424227	chr12:120356251-120356252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28517810	chr12:120356269-120356270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533690770	chr12:120356338-120356339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61945780	chr12:120356488-120356489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546933192	chr12:120356571-120356572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538763574	chr12:120358453-120358454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201867629	chr12:120358472-120358473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140524217	chr12:120358514-120358515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572091722	chr12:120358515-120358516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145439970	chr12:120358610-120358611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147676713	chr12:120358611-120358612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574034727	chr12:120358663-120358664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576072867	chr12:120358702-120358703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542872394	chr12:120358712-120358713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562546385	chr12:120358713-120358714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531569710	chr12:120358767-120358768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545497385	chr12:120358772-120358773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565267682	chr12:120358773-120358774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527761484	chr12:120358778-120358779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142331073	chr12:120358793-120358794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548655524	chr12:120358808-120358809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536178423	chr12:120358837-120358838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369444175	chr12:120358888-120358889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146207503	chr12:120358895-120358896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190261858	chr12:120358904-120358905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548717929	chr12:120358907-120358908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558504944	chr12:120358918-120358919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120351600-120356600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:120355400-120355600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:120355600-120356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:120356400-120356600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:120358400-120359800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:120362800-120363000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:120365200-120365400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:120365600-120365800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:120365600-120365800	Bivalent Enhancer	NHDF-Ad	bronchial
10	chr12:120369000-120369600	Enhancers	Hela-S3	cervix
11	chr12:120369600-120378200	Weak transcription	Hela-S3	cervix
12	chr12:120372200-120372600	Enhancers	K562	blood
13	chr12:120374000-120374600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:120374000-120375200	Enhancers	NHDF-Ad	bronchial
15	chr12:120374600-120375000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:120374800-120375600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:120375200-120375400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:120375400-120375800	Enhancers	Lung	lung
19	chr12:120378200-120378400	Enhancers	A549	lung
20	chr12:120378200-120378800	Enhancers	HMEC	breast
21	chr12:120378200-120379000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:120378200-120379000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:120378200-120379000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:120378200-120379000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:120378200-120379200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:120378200-120379200	Enhancers	Hela-S3	cervix
27	chr12:120378200-120379800	Enhancers	NHDF-Ad	bronchial
28	chr12:120378400-120378600	Flanking Active TSS	HSMM	muscle
29	chr12:120378400-120378800	Enhancers	NHEK	skin
30	chr12:120378400-120378800	Enhancers	Osteobl	bone
31	chr12:120378400-120379000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:120378400-120379000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:120378400-120379000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:120378400-120379000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:120378400-120379000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:120378400-120379000	Flanking Active TSS	A549	lung
37	chr12:120378400-120379200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:120378400-120379200	Enhancers	HepG2	liver
39	chr12:120378400-120379600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:120378600-120378800	Enhancers	HSMM	muscle
41	chr12:120378600-120378800	Flanking Active TSS	NH-A	brain
42	chr12:120378600-120379000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:120378600-120379000	Enhancers	HUVEC	blood vessel
44	chr12:120378800-120379000	Enhancers	NH-A	brain
45	chr12:120379400-120383200	Weak transcription	Right Atrium	heart
46	chr12:120380200-120380400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:120380200-120380400	Flanking Active TSS	HSMMtube	muscle
48	chr12:120380200-120380600	Enhancers	Ovary	ovary
49	chr12:120380200-120382400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:120381800-120382000	Enhancers	A549	lung

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