Variant report

Variant	nsv557529
Chromosome Location	chr12:11494021-11515932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:170)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:170 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:11501400-11501725	K562	blood:	n/a	n/a
2	BCL3	chr12:11501361-11501642	GM12878	blood:	n/a	n/a
3	BCL3	chr12:11501365-11501771	GM12878	blood:	n/a	n/a
4	CEBPB	chr12:11514261-11514433	Hela-S3	cervix:	n/a	chr12:11514316-11514325
5	CREB1	chr12:11501439-11501709	A549	lung:	n/a	n/a
6	CREB1	chr12:11501156-11501972	K562	blood:	n/a	n/a
7	CREB1	chr12:11501275-11501755	HepG2	liver:	n/a	n/a
8	CREB1	chr12:11501322-11501785	K562	blood:	n/a	n/a
9	CREB1	chr12:11501341-11501827	HepG2	liver:	n/a	n/a
10	CTCF	chr12:11500820-11500970	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr12:11500840-11500990	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr12:11500900-11501050	GM12878	blood:	n/a	n/a
13	CTCF	chr12:11501578-11501581	A549	lung:	n/a	n/a
14	CTCF	chr12:11500880-11501030	HRE	kidney:	n/a	n/a
15	CTCF	chr12:11500860-11501010	HCFaa	heart:	n/a	n/a
16	CTCF	chr12:11500820-11500970	RPTEC	kidney:	n/a	n/a
17	CTCF	chr12:11506136-11506201	GM20000	blood:	n/a	n/a
18	CTCF	chr12:11500920-11501070	GM12872	blood:	n/a	n/a
19	CTCF	chr12:11500880-11501030	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr12:11500813-11500878	Lung_OC	lung:	n/a	n/a
21	CTCF	chr12:11500840-11500990	HMF	breast:	n/a	n/a
22	CTCF	chr12:11500880-11501030	HVMF	connective:	n/a	n/a
23	CTCF	chr12:11500840-11500990	NB4	blood:	n/a	n/a
24	CTCF	chr12:11500860-11501010	HEK293	kidney:	n/a	n/a
25	CTCF	chr12:11500860-11500982	LNCaP	prostate:	n/a	n/a
26	CTCF	chr12:11500920-11501070	AG04450	lung:	n/a	n/a
27	CTCF	chr12:11500800-11500950	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr12:11500858-11500979	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:11500820-11500970	AG04449	skin:	n/a	n/a
30	CTCF	chr12:11500800-11500950	GM12865	blood:	n/a	n/a
31	CTCF	chr12:11505592-11505641	GM20000	blood:	n/a	n/a
32	CTCF	chr12:11505978-11506004	Lung_OC	lung:	n/a	n/a
33	CTCF	chr12:11500920-11501070	HMEC	breast:	n/a	n/a
34	CTCF	chr12:11500920-11501070	WI-38	lung:	n/a	n/a
35	CTCF	chr12:11500860-11501010	GM12867	blood:	n/a	n/a
36	CTCF	chr12:11501680-11501830	GM12866	blood:	n/a	n/a
37	CTCF	chr12:11500840-11500990	GM12870	blood:	n/a	n/a
38	CTCF	chr12:11500891-11501001	LNCaP	prostate:	n/a	n/a
39	CTCF	chr12:11500880-11501030	HCT-116	colon:	n/a	n/a
40	CTCF	chr12:11500840-11500990	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr12:11500860-11501010	GM12874	blood:	n/a	n/a
42	CTCF	chr12:11500800-11500950	BJ	skin:	n/a	n/a
43	CTCF	chr12:11501524-11501614	MCF-7	breast:	n/a	n/a
44	CTCF	chr12:11500840-11500990	GM12865	blood:	n/a	n/a
45	CTCF	chr12:11500900-11501050	GM12864	blood:	n/a	n/a
46	CTCF	chr12:11500800-11500950	GM12873	blood:	n/a	n/a
47	CTCF	chr12:11500820-11500970	GM12801	blood:	n/a	n/a
48	CTCF	chr12:11500860-11501010	GM12866	blood:	n/a	n/a
49	CTCF	chr12:11500880-11501030	HMEC	breast:	n/a	n/a
50	CTCF	chr12:11500766-11501020	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11508049-11508099	PFSK-1	brain:	n/a
2	chr12:11508049-11508099	AG04450	lung:	fetal
3	chr12:11509583-11509633	AG09319	gingival:	n/a
4	chr12:11509583-11509633	BJ	skin:	n/a
5	chr12:11508049-11508099	HL-60	blood:	n/a
6	chr12:11509583-11509633	A549	lung:	n/a
7	chr12:11508049-11508099	Caco-2	colon:	n/a
8	chr12:11508049-11508099	IMR90	lung:	fetal
9	chr12:11509583-11509633	AG10803	skin:	n/a
10	chr12:11508049-11508099	HRPEpiC	eye:	n/a
11	chr12:11508049-11508099	PrEC	prostate:	n/a
12	chr12:11508049-11508099	MCF-7	breast:	n/a
13	chr12:11509583-11509633	GM12892	blood:	n/a
14	chr12:11509583-11509633	HNPCEpiC	eye:	n/a
15	chr12:11508049-11508099	A549	lung:	n/a
16	chr12:11508049-11508099	LNCaP	prostate:	n/a
17	chr12:11508049-11508099	SK-N-MC	brain:	n/a
18	chr12:11509583-11509633	K562	blood:	n/a
19	chr12:11508049-11508099	GM12878	blood:	n/a
20	chr12:11509583-11509633	MCF10A-Er-Src	breast:	n/a
21	chr12:11509583-11509633	HCPEpiC	choroid plexus:	n/a
22	chr12:11509583-11509633	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:11508049-11508099	K562	blood:	n/a
24	chr12:11509583-11509633	GM12878	blood:	n/a
25	chr12:11508049-11508099	HCM	heart:	n/a
26	chr12:11509583-11509633	HepG2	liver:	n/a
27	chr12:11509583-11509633	HAEpiC	amniotic membrane:	n/a
28	chr12:11508049-11508099	CMK	blood:	n/a
29	chr12:11509583-11509633	NT2-D1	testis:	n/a
30	chr12:11508049-11508099	HEK293	kidney:	embryo
31	chr12:11508049-11508099	AG09309	skin:	n/a
32	chr12:11509583-11509633	GM06990	blood:	n/a
33	chr12:11508049-11508099	U87	brain:	n/a
34	chr12:11509583-11509633	AG09309	skin:	n/a
35	chr12:11509583-11509633	SK-N-SH	brain:	n/a
36	chr12:11508049-11508099	T-47D	breast:	n/a
37	chr12:11508049-11508099	HRE	kidney:	n/a
38	chr12:11509583-11509633	SKMC	muscle:	n/a
39	chr12:11508049-11508099	NT2-D1	testis:	n/a
40	chr12:11509583-11509633	Hepatocyte	liver:	n/a
41	chr12:11509583-11509633	SK-N-SH_RA	brain:	n/a
42	chr12:11508049-11508099	AG09319	gingival:	n/a
43	chr12:11509583-11509633	HRPEpiC	eye:	n/a
44	chr12:11508049-11508099	SK-N-SH_RA	brain:	n/a
45	chr12:11508049-11508099	ECC-1	luminal epithelium:	n/a
46	chr12:11509583-11509633	AG04449	skin:	fetal
47	chr12:11508049-11508099	GM06990	blood:	n/a
48	chr12:11508049-11508099	GM12892	blood:	n/a
49	chr12:11508049-11508099	H1-hESC	embryonic stem cell:	embryo
50	chr12:11508049-11508099	SKMC	muscle:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:
2	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:

No data

Variant related genes	Relation type
PRB1	TF binding region
PRB1	CpG island

Extended variants
information (count: 964 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:964 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1816223	chr12:11494021-11494022	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371069236	chr12:11494058-11494059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540107471	chr12:11494064-11494065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535475055	chr12:11494086-11494087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553665299	chr12:11494113-11494114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374143119	chr12:11494173-11494174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116225124	chr12:11494196-11494197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1834860	chr12:11494222-11494223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557591114	chr12:11494223-11494224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577381179	chr12:11494253-11494254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202158749	chr12:11494265-11494266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200321264	chr12:11494267-11494268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35976233	chr12:11494268-11494269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386375615	chr12:11494269-11494270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397703295	chr12:11494270-11494271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200097367	chr12:11494272-11494273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546348982	chr12:11494296-11494297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553226119	chr12:11494297-11494298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148616902	chr12:11494304-11494305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57415726	chr12:11494366-11494367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74060756	chr12:11494371-11494372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567530211	chr12:11494425-11494426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114992957	chr12:11494431-11494432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545588188	chr12:11494436-11494437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1834861	chr12:11494455-11494456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1427753	chr12:11494479-11494480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189063814	chr12:11494480-11494481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533378331	chr12:11494483-11494484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539543172	chr12:11494487-11494488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558510316	chr12:11494509-11494510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566610902	chr12:11494521-11494522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142075446	chr12:11494538-11494539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549050099	chr12:11494560-11494561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146211192	chr12:11494561-11494562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537812997	chr12:11494565-11494566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547277127	chr12:11494614-11494615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557390710	chr12:11494615-11494616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35905529	chr12:11494661-11494662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571102473	chr12:11494674-11494675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77194000	chr12:11494675-11494676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193018934	chr12:11494728-11494729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575379201	chr12:11494750-11494751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573056066	chr12:11494752-11494753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541932596	chr12:11494769-11494770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183820534	chr12:11494796-11494797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370448295	chr12:11494801-11494802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187347857	chr12:11494812-11494813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564255408	chr12:11494827-11494828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533243786	chr12:11494828-11494829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191787140	chr12:11494830-11494831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11493000-11494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:11494200-11496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:11496600-11496800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:11496800-11499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:11497200-11497800	Enhancers	HepG2	liver
6	chr12:11497800-11498600	Enhancers	Fetal Intestine Small	intestine
7	chr12:11498200-11498600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:11504000-11505000	Enhancers	HUVEC	blood vessel
9	chr12:11505000-11510400	Weak transcription	HUVEC	blood vessel
10	chr12:11506600-11507000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:11510000-11511000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:11510000-11511200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:11510400-11511000	Enhancers	HUVEC	blood vessel
14	chr12:11511000-11512400	Weak transcription	HUVEC	blood vessel
15	chr12:11511200-11519600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:11512400-11514000	Enhancers	HUVEC	blood vessel
17	chr12:11513000-11513800	Enhancers	HMEC	breast
18	chr12:11513000-11514000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:11513000-11514000	Enhancers	NHEK	skin
20	chr12:11513400-11513600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:11513600-11514200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:11513600-11521200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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