Variant report

Variant	nsv1054581
Chromosome Location	chr12:87510821-87669648
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	ATF3	chr12:87551480-87552148	A549	lung:	n/a	n/a
2	ATF3	chr12:87551512-87551937	A549	lung:	n/a	n/a
3	BACH1	chr12:87545070-87545339	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:87530180-87530435	K562	blood:	n/a	n/a
5	BACH1	chr12:87530120-87530610	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr12:87545017-87545298	GM12878	blood:	n/a	n/a
7	BATF	chr12:87545111-87545295	GM12878	blood:	n/a	n/a
8	BCL3	chr12:87655757-87656077	GM12878	blood:	n/a	n/a
9	BDP1	chr12:87551645-87551965	Hela-S3	cervix:	n/a	n/a
10	BHLHE40	chr12:87545104-87545452	GM12878	blood:	n/a	n/a
11	BRCA1	chr12:87551557-87551893	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr12:87562905-87562963	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:87660104-87660403	MCF-7	breast:	n/a	n/a
14	CEBPB	chr12:87629129-87629383	A549	lung:	n/a	chr12:87629201-87629212 chr12:87629203-87629212 chr12:87629203-87629214
15	CEBPB	chr12:87551462-87551961	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr12:87648038-87648483	HepG2	liver:	n/a	chr12:87648129-87648140 chr12:87648130-87648141
17	CEBPB	chr12:87549488-87549758	A549	lung:	n/a	chr12:87549643-87549654 chr12:87549643-87549654 chr12:87549643-87549656 chr12:87549644-87549655 chr12:87549643-87549656
18	CEBPB	chr12:87629070-87629366	IMR90	lung:	n/a	chr12:87629201-87629212 chr12:87629203-87629212 chr12:87629203-87629214
19	CEBPB	chr12:87531119-87531325	A549	lung:	n/a	chr12:87531198-87531209
20	CEBPB	chr12:87633120-87633320	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:87532470-87532625	A549	lung:	n/a	n/a
22	CEBPB	chr12:87536089-87536305	H1-hESC	embryonic stem cell:	n/a	chr12:87536224-87536237
23	CEBPB	chr12:87549445-87549794	IMR90	lung:	n/a	chr12:87549643-87549654 chr12:87549643-87549654 chr12:87549643-87549656 chr12:87549644-87549655 chr12:87549643-87549656
24	CEBPB	chr12:87549405-87549877	A549	lung:	n/a	chr12:87549643-87549654 chr12:87549643-87549654 chr12:87549643-87549656 chr12:87549644-87549655 chr12:87549643-87549656
25	CEBPB	chr12:87664615-87664964	IMR90	lung:	n/a	chr12:87664787-87664800
26	CEBPB	chr12:87549421-87549851	Hela-S3	cervix:	n/a	chr12:87549643-87549654 chr12:87549643-87549654 chr12:87549643-87549656 chr12:87549644-87549655 chr12:87549643-87549656
27	CEBPB	chr12:87628193-87628358	HepG2	liver:	n/a	chr12:87628269-87628280
28	CEBPB	chr12:87551536-87551979	A549	lung:	n/a	n/a
29	CEBPB	chr12:87647987-87648664	Hela-S3	cervix:	n/a	chr12:87648129-87648140 chr12:87648130-87648141
30	CEBPB	chr12:87534057-87534461	Hela-S3	cervix:	n/a	chr12:87534250-87534261 chr12:87534248-87534261
31	CEBPB	chr12:87565874-87566091	MCF-7	breast:	n/a	chr12:87565998-87566009
32	CEBPB	chr12:87536046-87536423	Hela-S3	cervix:	n/a	chr12:87536224-87536237
33	CEBPB	chr12:87534067-87534430	IMR90	lung:	n/a	chr12:87534250-87534261 chr12:87534248-87534261
34	CEBPB	chr12:87565901-87566151	A549	lung:	n/a	chr12:87565998-87566009
35	CEBPB	chr12:87551579-87551885	A549	lung:	n/a	n/a
36	CEBPB	chr12:87565825-87566194	HepG2	liver:	n/a	chr12:87565998-87566009
37	CEBPB	chr12:87551493-87551944	IMR90	lung:	n/a	n/a
38	CEBPB	chr12:87531010-87531331	MCF-7	breast:	n/a	chr12:87531198-87531209
39	CEBPB	chr12:87551394-87552037	A549	lung:	n/a	chr12:87551452-87551469
40	CEBPB	chr12:87530880-87531534	Hela-S3	cervix:	n/a	chr12:87531198-87531209
41	CEBPB	chr12:87629054-87629348	HepG2	liver:	n/a	chr12:87629201-87629212 chr12:87629203-87629212 chr12:87629203-87629214
42	CEBPB	chr12:87648895-87649067	HepG2	liver:	n/a	chr12:87648978-87648989
43	CEBPB	chr12:87534114-87534420	A549	lung:	n/a	chr12:87534250-87534261 chr12:87534248-87534261
44	CEBPB	chr12:87641737-87642171	IMR90	lung:	n/a	n/a
45	CEBPB	chr12:87582541-87582821	HepG2	liver:	n/a	chr12:87582694-87582705
46	CEBPB	chr12:87641806-87642079	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr12:87660200-87660378	A549	lung:	n/a	n/a
48	CEBPB	chr12:87549552-87549704	HepG2	liver:	n/a	chr12:87549643-87549654 chr12:87549643-87549654 chr12:87549643-87549656 chr12:87549644-87549655 chr12:87549643-87549656
49	CEBPB	chr12:87609123-87609155	A549	lung:	n/a	chr12:87609127-87609140
50	CEBPB	chr12:87565846-87566156	IMR90	lung:	n/a	chr12:87565998-87566009

No.	Distal block	Cell Line	Cell type
1	chr12:87512190..87514558-chr12:87523597..87525941,2	K562	blood:
2	chr12:87647495..87649895-chr12:87655777..87657891,2	MCF-7	breast:
3	chr12:87512654..87515691-chr12:87528653..87530382,3	MCF-7	breast:
4	chr12:87659850..87660667-chr12:88060624..88061809,3	MCF-7	breast:
5	chr12:87647495..87649895-chr12:87655777..87657891,2	MCF-7	breast:
6	chr12:87626896..87628640-chr12:87630760..87632363,2	MCF-7	breast:
7	chr12:87512654..87515691-chr12:87528653..87530382,3	MCF-7	breast:
8	chr12:87668540..87669052-chr12:88060902..88061446,2	MCF-7	breast:
9	chr12:87572443..87573395-chr3:190629682..190630453,2	MCF-7	breast:
10	chr12:87559731..87562438-chr12:87594241..87595999,2	K562	blood:
11	chr12:87523604..87525877-chr12:87529351..87531918,2	MCF-7	breast:
12	chr12:87636634..87638799-chr12:87660312..87662242,2	K562	blood:
13	chr12:87512190..87514558-chr12:87523597..87525941,2	K562	blood:
14	chr12:87513960..87515515-chr12:87520858..87523427,2	MCF-7	breast:
15	chr12:87626896..87628640-chr12:87630760..87632363,2	MCF-7	breast:
16	chr12:87513960..87515515-chr12:87520858..87523427,2	MCF-7	breast:
17	chr12:87507574..87509719-chr12:87517143..87519195,2	MCF-7	breast:
18	chr12:87523604..87525877-chr12:87529351..87531918,2	MCF-7	breast:
19	chr12:87559731..87562438-chr12:87594241..87595999,2	K562	blood:
20	chr12:87646760..87648711-chr12:87650692..87652796,2	MCF-7	breast:
21	chr12:87636634..87638799-chr12:87660312..87662242,2	K562	blood:
22	chr12:87655842..87656682-chr3:185418165..185418916,2	MCF-7	breast:
23	chr12:87646760..87648711-chr12:87650692..87652796,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-4	chr12:87563762-87564206	NONHSAT029769

Variant related genes	Relation type
RPL23AP68	TF binding region

Extended variants
information (count: 3860 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3860 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190301112	chr12:87510838-87510839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550044695	chr12:87510844-87510845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181531804	chr12:87510848-87510849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532622742	chr12:87510856-87510857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552759257	chr12:87510870-87510871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116855804	chr12:87510881-87510882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543444377	chr12:87510910-87510911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561911562	chr12:87510960-87510961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567318608	chr12:87511016-87511017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536336884	chr12:87511045-87511046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556021136	chr12:87511100-87511101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576165632	chr12:87511105-87511106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144028899	chr12:87511124-87511125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538429873	chr12:87511149-87511150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373428540	chr12:87511184-87511185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558348474	chr12:87511260-87511261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571972018	chr12:87511305-87511306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540932438	chr12:87511358-87511359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79644146	chr12:87511380-87511381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568815111	chr12:87511401-87511402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111537176	chr12:87511403-87511404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376441245	chr12:87511438-87511439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560935331	chr12:87511461-87511462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574771379	chr12:87511510-87511511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543875153	chr12:87511564-87511565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11104295	chr12:87511601-87511602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532652772	chr12:87511637-87511638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552762422	chr12:87511640-87511641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559991552	chr12:87511689-87511690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147933104	chr12:87511692-87511693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140572668	chr12:87511693-87511694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150035168	chr12:87511694-87511695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145423970	chr12:87511695-87511696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149214970	chr12:87511696-87511697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536405296	chr12:87511713-87511714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547761799	chr12:87511714-87511715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548941485	chr12:87511802-87511803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550976108	chr12:87511860-87511861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544174251	chr12:87512027-87512028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146246010	chr12:87512062-87512063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183771981	chr12:87512082-87512083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376453662	chr12:87512083-87512084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559953118	chr12:87512088-87512089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147372501	chr12:87512288-87512289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7953879	chr12:87512297-87512298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186870852	chr12:87512308-87512309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538738883	chr12:87512338-87512339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553876449	chr12:87512352-87512353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558287198	chr12:87512366-87512367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571959579	chr12:87512410-87512411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87507000-87514400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:87510200-87511000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:87510200-87511200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:87510200-87511600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:87510200-87511600	Enhancers	Fetal Heart	heart
6	chr12:87510400-87511200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:87510600-87511800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:87510600-87511800	Enhancers	Hela-S3	cervix
9	chr12:87511600-87514400	Weak transcription	Fetal Heart	heart
10	chr12:87511800-87513400	Weak transcription	Hela-S3	cervix
11	chr12:87513400-87514200	Enhancers	Hela-S3	cervix
12	chr12:87514200-87514600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:87514200-87521000	Weak transcription	Hela-S3	cervix
14	chr12:87514400-87514600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:87514400-87514600	Enhancers	Fetal Heart	heart
16	chr12:87514600-87524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:87518800-87521000	Weak transcription	Fetal Lung	lung
18	chr12:87520000-87521800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:87520400-87521200	Enhancers	Fetal Brain Male	brain
20	chr12:87520800-87521000	Weak transcription	Fetal Heart	heart
21	chr12:87520800-87521600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:87520800-87521800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:87520800-87521800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:87521000-87521400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:87521000-87521400	Enhancers	Fetal Heart	heart
26	chr12:87521000-87521400	Enhancers	Fetal Lung	lung
27	chr12:87521000-87521400	Enhancers	Hela-S3	cervix
28	chr12:87521200-87521600	Weak transcription	Fetal Brain Male	brain
29	chr12:87521400-87529600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:87521400-87535000	Weak transcription	Fetal Heart	heart
31	chr12:87521600-87524200	Enhancers	Fetal Brain Male	brain
32	chr12:87524400-87524800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:87524400-87524800	Enhancers	HMEC	breast
34	chr12:87524800-87529400	Weak transcription	HMEC	breast
35	chr12:87524800-87529800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:87529200-87530800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:87529400-87530000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:87529400-87530600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:87529400-87531000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:87529400-87531200	Enhancers	HMEC	breast
41	chr12:87529600-87530000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr12:87529600-87530400	Enhancers	Hela-S3	cervix
43	chr12:87529600-87530400	Enhancers	Osteobl	bone
44	chr12:87529600-87530800	Enhancers	NHEK	skin
45	chr12:87529600-87531400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr12:87529800-87530600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:87529800-87530800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:87529800-87530800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:87530000-87530200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:87530000-87530200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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