Variant report

Variant	nsv1046573
Chromosome Location	chr12:21078795-21194123
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	BATF	chr12:21090344-21090547	GM12878	blood:	n/a	n/a
2	BHLHE40	chr12:21138511-21138625	GM12878	blood:	n/a	n/a
3	BRCA1	chr12:21103222-21103500	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:21114301-21114316	A549	lung:	n/a	n/a
5	CEBPB	chr12:21127431-21127656	HepG2	liver:	n/a	chr12:21127518-21127529
6	CEBPB	chr12:21193668-21193806	K562	blood:	n/a	chr12:21193754-21193765
7	CEBPB	chr12:21193579-21193868	A549	lung:	n/a	chr12:21193754-21193765
8	CEBPB	chr12:21175943-21176096	H1-hESC	embryonic stem cell:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
9	CEBPB	chr12:21133477-21133530	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:21193722-21193901	H1-hESC	embryonic stem cell:	n/a	chr12:21193754-21193765
11	CEBPB	chr12:21193602-21193866	HepG2	liver:	n/a	chr12:21193754-21193765
12	CEBPB	chr12:21175930-21176170	HepG2	liver:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
13	CEBPB	chr12:21168858-21169067	H1-hESC	embryonic stem cell:	n/a	chr12:21168919-21168930
14	CEBPB	chr12:21168771-21169100	A549	lung:	n/a	chr12:21168919-21168930
15	CEBPB	chr12:21193668-21193868	Hela-S3	cervix:	n/a	chr12:21193754-21193765
16	CEBPB	chr12:21168774-21169104	HepG2	liver:	n/a	chr12:21168919-21168930
17	CTCF	chr12:21099720-21099870	HCT-116	colon:	n/a	n/a
18	CTCF	chr12:21099440-21099590	GM12864	blood:	n/a	n/a
19	CTCF	chr12:21103300-21103450	HCT-116	colon:	n/a	n/a
20	CTCF	chr12:21103300-21103450	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr12:21099820-21099970	HBMEC	blood vessel:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
22	CTCF	chr12:21103261-21103469	GM10266	blood:	n/a	n/a
23	CTCF	chr12:21103280-21103430	HCT-116	colon:	n/a	n/a
24	CTCF	chr12:21103240-21103390	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr12:21104872-21104896	GM13976	blood:	n/a	n/a
26	CTCF	chr12:21137687-21137736	GM13976	blood:	n/a	n/a
27	CTCF	chr12:21099760-21099910	GM12870	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
28	CTCF	chr12:21099820-21099970	BE2_C	brain:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
29	CTCF	chr12:21103243-21103481	Gliobla	brain:	n/a	n/a
30	CTCF	chr12:21103280-21103430	GM12872	blood:	n/a	n/a
31	CTCF	chr12:21103660-21103810	GM12866	blood:	n/a	n/a
32	CTCF	chr12:21099700-21099850	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr12:21103280-21103430	HEK293	kidney:	n/a	n/a
34	CTCF	chr12:21099760-21099910	GM12865	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
35	CTCF	chr12:21099761-21099983	Pancreas_OC	pancreas:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
36	CTCF	chr12:21099760-21099910	GM12874	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
37	CTCF	chr12:21103300-21103450	NB4	blood:	n/a	n/a
38	CTCF	chr12:21099800-21099950	RPTEC	kidney:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
39	CTCF	chr12:21099794-21099881	H1-hESC	embryonic stem cell:	n/a	chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
40	CTCF	chr12:21099780-21099930	Hela-S3	cervix:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
41	CTCF	chr12:21103320-21103470	AG09319	gingival:	n/a	n/a
42	CTCF	chr12:21154873-21154946	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:21099740-21099890	HMEC	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
44	CTCF	chr12:21103280-21103430	GM12878	blood:	n/a	n/a
45	CTCF	chr12:21154868-21154942	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr12:21103222-21103523	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr12:21103184-21103585	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:21099774-21099959	HepG2	liver:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
49	CTCF	chr12:21099800-21099950	HepG2	liver:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
50	CTCF	chr12:21099760-21099910	HCPEpiC	choroid plexus:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872

No.	Distal block	Cell Line	Cell type
1	chr12:21099420..21100309-chr12:21218592..21219170,2	MCF-7	breast:
2	chr12:21099378..21100255-chr12:21322524..21323110,2	MCF-7	breast:
3	chr12:21103010..21104123-chr12:21218514..21219449,3	MCF-7	breast:
4	chr12:21154478..21155199-chr12:21322720..21323314,2	MCF-7	breast:
5	chr12:21102918..21103853-chr12:21322562..21323307,3	MCF-7	breast:
6	chr12:21099355..21100332-chr12:21322634..21323175,3	MCF-7	breast:
7	chr12:21193958..21195458-chr17:59872939..59874521,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO1A2-5	chr12:21083248-21084757	NONHSAT027238

Variant related genes	Relation type
SLCO1B7	TF binding region

Extended variants
information (count: 2732 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2732 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541556623	chr12:21078811-21078812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562412066	chr12:21078813-21078814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527275540	chr12:21078836-21078837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547709743	chr12:21078856-21078857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189119257	chr12:21078906-21078907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11519262	chr12:21078925-21078926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533408942	chr12:21078974-21078975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144701123	chr12:21078977-21078978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148523578	chr12:21079050-21079051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182570675	chr12:21079053-21079054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549202264	chr12:21079098-21079099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144298284	chr12:21079123-21079124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186439055	chr12:21079143-21079144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534995927	chr12:21079157-21079158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75913014	chr12:21079166-21079167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558156258	chr12:21079173-21079174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370770223	chr12:21079189-21079190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539307786	chr12:21079191-21079192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4628728	chr12:21079200-21079201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556370038	chr12:21079223-21079224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190660249	chr12:21079224-21079225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541941537	chr12:21079294-21079295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149713045	chr12:21079334-21079335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564507235	chr12:21079385-21079386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369880120	chr12:21079386-21079387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561422952	chr12:21079410-21079411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571778265	chr12:21079416-21079417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565500939	chr12:21079419-21079420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563695302	chr12:21079447-21079448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533451441	chr12:21079450-21079451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12580724	chr12:21079525-21079526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563949357	chr12:21079545-21079546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569674333	chr12:21079549-21079550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12366506	chr12:21079595-21079596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs549484963	chr12:21079610-21079611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571496805	chr12:21079618-21079619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76898374	chr12:21079645-21079646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551802276	chr12:21079690-21079691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117574900	chr12:21079741-21079742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182899031	chr12:21079756-21079757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539761382	chr12:21079782-21079783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6487177	chr12:21079811-21079812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569859346	chr12:21079855-21079856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7137791	chr12:21079897-21079898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112508780	chr12:21079908-21079909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201724232	chr12:21079947-21079948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375502065	chr12:21079948-21079949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147088801	chr12:21079949-21079950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375197509	chr12:21079951-21079952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201817033	chr12:21079953-21079954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21058400-21080400	Weak transcription	A549	lung
2	chr12:21070600-21080600	Weak transcription	Liver	Liver
3	chr12:21080400-21080800	ZNF genes & repeats	A549	lung
4	chr12:21080600-21081000	ZNF genes & repeats	Liver	Liver
5	chr12:21081000-21103400	Weak transcription	Liver	Liver
6	chr12:21084800-21085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:21098200-21098600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:21103400-21103600	ZNF genes & repeats	Liver	Liver
9	chr12:21107800-21108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:21114400-21115200	ZNF genes & repeats	Liver	Liver
11	chr12:21115200-21115800	Weak transcription	Liver	Liver
12	chr12:21115800-21116600	Enhancers	Liver	Liver
13	chr12:21116600-21116800	Flanking Active TSS	Liver	Liver
14	chr12:21116800-21117000	Enhancers	Liver	Liver
15	chr12:21117000-21117200	Flanking Active TSS	Liver	Liver
16	chr12:21117200-21118600	Enhancers	Liver	Liver
17	chr12:21118600-21119000	Weak transcription	Liver	Liver
18	chr12:21119000-21123000	Enhancers	Liver	Liver
19	chr12:21125200-21125600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:21138000-21139200	Enhancers	Dnd41	blood
21	chr12:21138200-21145200	Weak transcription	Liver	Liver
22	chr12:21142800-21143000	ZNF genes & repeats	Gastric	stomach
23	chr12:21145200-21146400	ZNF genes & repeats	Liver	Liver
24	chr12:21146400-21154400	Weak transcription	Liver	Liver
25	chr12:21154400-21155000	ZNF genes & repeats	Liver	Liver
26	chr12:21154800-21155000	Enhancers	Gastric	stomach
27	chr12:21155000-21156800	Weak transcription	Liver	Liver
28	chr12:21171000-21172800	Weak transcription	Liver	Liver
29	chr12:21172800-21173600	Strong transcription	Liver	Liver
30	chr12:21173600-21176000	Weak transcription	Liver	Liver
31	chr12:21176000-21178200	Strong transcription	Liver	Liver
32	chr12:21178200-21178400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:21178200-21179800	Weak transcription	Liver	Liver
34	chr12:21179400-21179600	Enhancers	A549	lung
35	chr12:21179800-21180000	Strong transcription	Liver	Liver
36	chr12:21180000-21180200	ZNF genes & repeats	Liver	Liver
37	chr12:21180200-21180600	Weak transcription	Liver	Liver
38	chr12:21187400-21187800	Active TSS	Psoas Muscle	Psoas

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