Variant report

Variant	nsv1050873
Chromosome Location	chr12:782639-816736
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	chr12:804017-804280	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:783640-783703	K562	blood:	n/a	n/a
3	ARID3A	chr12:811211-811478	HepG2	liver:	n/a	n/a
4	ATF2	chr12:794524-795256	GM12878	blood:	n/a	n/a
5	ATF2	chr12:782975-784195	GM12878	blood:	n/a	n/a
6	ATF2	chr12:791586-792067	GM12878	blood:	n/a	n/a
7	ATF2	chr12:782384-782749	GM12878	blood:	n/a	n/a
8	ATF2	chr12:794559-795159	GM12878	blood:	n/a	n/a
9	ATF2	chr12:782928-784303	GM12878	blood:	n/a	n/a
10	ATF2	chr12:788057-788653	GM12878	blood:	n/a	n/a
11	ATF2	chr12:788224-788729	GM12878	blood:	n/a	n/a
12	BATF	chr12:788112-788433	GM12878	blood:	n/a	n/a
13	BATF	chr12:790969-791173	GM12878	blood:	n/a	n/a
14	BATF	chr12:813790-814076	GM12878	blood:	n/a	n/a
15	BATF	chr12:783382-783970	GM12878	blood:	n/a	n/a
16	BATF	chr12:783475-783993	GM12878	blood:	n/a	n/a
17	BATF	chr12:794527-794937	GM12878	blood:	n/a	n/a
18	BATF	chr12:786469-786782	GM12878	blood:	n/a	n/a
19	BATF	chr12:801600-801857	GM12878	blood:	n/a	n/a
20	BATF	chr12:786399-786770	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:782391-782737	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:783502-783933	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:783130-783958	GM12878	blood:	n/a	chr12:783189-783198
24	BCL3	chr12:783332-783983	GM12878	blood:	n/a	n/a
25	BCL3	chr12:804202-804619	GM12878	blood:	n/a	n/a
26	BCL3	chr12:804164-804717	GM12878	blood:	n/a	n/a
27	BCL3	chr12:783233-784137	GM12878	blood:	n/a	n/a
28	BCLAF1	chr12:782970-784046	GM12878	blood:	n/a	chr12:783189-783198
29	BCLAF1	chr12:782298-782809	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:791584-792121	GM12878	blood:	n/a	n/a
31	BCLAF1	chr12:782875-784143	GM12878	blood:	n/a	chr12:783189-783198
32	BHLHE40	chr12:799676-799931	HepG2	liver:	n/a	n/a
33	BHLHE40	chr12:788152-788477	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:783070-784121	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:790942-790946	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:801695-801724	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:791720-792133	GM12878	blood:	n/a	n/a
38	BHLHE40	chr12:793632-793844	GM12878	blood:	n/a	n/a
39	BHLHE40	chr12:787572-787807	GM12878	blood:	n/a	n/a
40	BHLHE40	chr12:794453-794940	GM12878	blood:	n/a	n/a
41	CBX3	chr12:807293-807810	K562	blood:	n/a	n/a
42	CBX3	chr12:807451-807868	HCT-116	colon:	n/a	n/a
43	CBX3	chr12:807338-807895	K562	blood:	n/a	n/a
44	CEBPB	chr12:803849-804106	HepG2	liver:	n/a	n/a
45	CEBPB	chr12:800388-800685	MCF-7	breast:	n/a	chr12:800581-800590 chr12:800580-800591 chr12:800581-800590 chr12:800581-800590
46	CEBPB	chr12:783629-784030	GM12878	blood:	n/a	n/a
47	CEBPB	chr12:794784-795149	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr12:800397-800764	H1-hESC	embryonic stem cell:	n/a	chr12:800581-800590 chr12:800580-800591 chr12:800581-800590 chr12:800581-800590
49	CEBPB	chr12:800407-800773	IMR90	lung:	n/a	chr12:800581-800590 chr12:800580-800591 chr12:800581-800590 chr12:800581-800590
50	CEBPB	chr12:800418-800657	K562	blood:	n/a	chr12:800581-800590 chr12:800580-800591 chr12:800581-800590 chr12:800581-800590

No.	Distal block	Cell Line	Cell type
1	chr12:784539..786532-chr12:803214..805167,2	K562	blood:
2	chr12:784539..786532-chr12:803214..805167,2	K562	blood:
3	chr12:795680..800126-chr12:801859..804463,4	K562	blood:
4	chr12:751811..754307-chr12:785925..788890,4	MCF-7	breast:
5	chr12:808962..809943-chr2:114147779..114148497,2	MCF-7	breast:
6	chr12:795680..800126-chr12:801859..804463,4	K562	blood:
7	chr12:754920..757056-chr12:790543..792765,2	K562	blood:
8	chr12:752374..754889-chr12:785771..788046,2	K562	blood:
9	chr12:774861..777730-chr12:780859..783120,2	K562	blood:
10	chr12:772635..775511-chr12:804451..806232,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NINJ2-1	chr12:793161-793293	ENSG00000256672
2	lnc-WNK1-1	chr12:799000-799203	XLOC_009614
3	lnc-WNK1-1	chr12:812115-812164	XLOC_009614
4	lnc-NINJ2-1	chr12:783967-784185	ENSG00000256672
5	lnc-NINJ2-1	chr12:790918-791061	ENSG00000256672

Variant related genes	Relation type
ENSG00000256672	TF binding region
ENSG00000171840	chromatin interactions
ENSG00000177406	chromatin interactions

Extended variants
information (count: 1371 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1371 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540456399	chr12:782676-782677	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562030933	chr12:782709-782710	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139042895	chr12:782721-782722	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs145027495	chr12:782738-782739	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs562744129	chr12:782753-782754	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533425144	chr12:782755-782756	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551925594	chr12:782760-782761	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536586626	chr12:782765-782766	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566997577	chr12:782806-782807	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs533958268	chr12:782822-782823	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs71449103	chr12:782970-782971	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549238008	chr12:782976-782977	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1870200	chr12:782982-782983	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs568426953	chr12:782997-782998	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35041650	chr12:782998-782999	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs397850358	chr12:783007-783008	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs140172633	chr12:783053-783054	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556081329	chr12:783056-783057	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374895774	chr12:783084-783085	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145582000	chr12:783124-783125	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs538320713	chr12:783125-783126	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185264424	chr12:783130-783131	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs573532045	chr12:783134-783135	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571844841	chr12:783158-783159	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145362946	chr12:783160-783161	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555588347	chr12:783203-783204	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs574228978	chr12:783205-783206	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544588385	chr12:783224-783225	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs540653207	chr12:783279-783280	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs115536119	chr12:783312-783313	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11616050	chr12:783350-783351	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs189637654	chr12:783366-783367	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577448237	chr12:783483-783484	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12425791	chr12:783484-783485	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
35	rs527831872	chr12:783492-783493	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs549150321	chr12:783496-783497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116153365	chr12:783515-783516	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs530945283	chr12:783526-783527	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531596918	chr12:783625-783626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs149182231	chr12:783665-783666	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs571549162	chr12:783676-783677	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs538232865	chr12:783706-783707	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184189281	chr12:783719-783720	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs544246568	chr12:783757-783758	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs142355036	chr12:783771-783772	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs117176744	chr12:783807-783808	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs188842274	chr12:783863-783864	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544817536	chr12:783875-783876	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs73037152	chr12:783956-783957	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs193226482	chr12:783971-783972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:772800-786600	Enhancers	Fetal Thymus	thymus
2	chr12:773000-786000	Weak transcription	Left Ventricle	heart
3	chr12:775200-785000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:776200-785000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:776800-783400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:777000-783000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:777000-788000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:777600-783000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:777600-783600	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:779800-783200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:780200-783200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:781000-784400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:781200-783400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:781200-784200	Enhancers	Liver	Liver
15	chr12:781200-785000	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:781200-785000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:781400-783200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:781400-783800	Enhancers	HepG2	liver
19	chr12:781400-785000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:781600-783000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:781600-783000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:781600-783200	Enhancers	Primary T cells from cord blood	blood
23	chr12:781600-783800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:781600-784800	Enhancers	Primary B cells from cord blood	blood
25	chr12:781600-784800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:781800-784400	Enhancers	Thymus	Thymus
27	chr12:781800-784600	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:782400-783200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:782400-783800	Enhancers	Brain Substantia Nigra	brain
30	chr12:782400-784400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:782400-785200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:782600-783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:782600-783000	Active TSS	GM12878-XiMat	blood
34	chr12:782600-783200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:782600-783400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:783000-783200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr12:783000-783400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:783000-783400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:783000-783600	Flanking Active TSS	GM12878-XiMat	blood
40	chr12:783000-783800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr12:783000-784400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:783000-784400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:783000-785000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:783200-783800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:783200-783800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr12:783200-783800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:783200-783800	Enhancers	Brain Hippocampus Middle	brain
48	chr12:783200-783800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:783200-784000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr12:783200-784000	Enhancers	Dnd41	blood

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