Variant report

Variant	nsv559661
Chromosome Location	chr12:85544429-85638089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:338)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:85619290-85619582	IMR90	lung:	n/a	chr12:85619428-85619439
2	CEBPB	chr12:85619295-85619549	A549	lung:	n/a	chr12:85619428-85619439
3	CEBPB	chr12:85551145-85551452	A549	lung:	n/a	n/a
4	CEBPB	chr12:85637235-85637436	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr12:85599606-85599840	A549	lung:	n/a	n/a
6	CEBPB	chr12:85619275-85619599	HepG2	liver:	n/a	chr12:85619428-85619439
7	CTCF	chr12:85624620-85624770	HVMF	connective:	n/a	n/a
8	CTCF	chr12:85549513-85549969	A549	lung:	n/a	n/a
9	CTCF	chr12:85562317-85562433	GM10248	blood:	n/a	n/a
10	CTCF	chr12:85549680-85549830	Caco-2	colon:	n/a	n/a
11	CTCF	chr12:85624680-85624830	HepG2	liver:	n/a	n/a
12	CTCF	chr12:85549800-85549950	NHEK	skin:	n/a	n/a
13	CTCF	chr12:85624598-85624784	LNCaP	prostate:	n/a	n/a
14	CTCF	chr12:85549689-85549842	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:85550381-85550812	HCT-116	colon:	n/a	chr12:85550533-85550554
16	CTCF	chr12:85549630-85549856	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr12:85550540-85550690	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr12:85549660-85549810	SAEC	small airway:	n/a	n/a
19	CTCF	chr12:85550374-85550705	MCF-7	breast:	n/a	chr12:85550533-85550554
20	CTCF	chr12:85549720-85549870	HMF	breast:	n/a	n/a
21	CTCF	chr12:85549597-85549985	MCF-7	breast:	n/a	n/a
22	CTCF	chr12:85549660-85549810	RPTEC	kidney:	n/a	n/a
23	CTCF	chr12:85549700-85549850	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr12:85549352-85550081	A549	lung:	n/a	n/a
25	CTCF	chr12:85549440-85549590	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr12:85549680-85549830	GM12872	blood:	n/a	n/a
27	CTCF	chr12:85549760-85549910	HEK293	kidney:	n/a	n/a
28	CTCF	chr12:85550560-85550710	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:85624600-85624750	HepG2	liver:	n/a	n/a
30	CTCF	chr12:85549636-85549890	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr12:85550480-85550630	A549	lung:	n/a	chr12:85550533-85550554
32	CTCF	chr12:85549540-85549690	HCT-116	colon:	n/a	n/a
33	CTCF	chr12:85549640-85549790	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr12:85549700-85549850	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr12:85550447-85550660	Hela-S3	cervix:	n/a	chr12:85550533-85550554
36	CTCF	chr12:85549709-85549808	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr12:85624677-85624773	A549	lung:	n/a	n/a
38	CTCF	chr12:85550454-85550619	A549	lung:	n/a	chr12:85550533-85550554
39	CTCF	chr12:85549700-85549850	RPTEC	kidney:	n/a	n/a
40	CTCF	chr12:85549540-85549690	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr12:85549680-85549830	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr12:85549640-85549790	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:85549620-85549770	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr12:85549680-85549830	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr12:85549548-85549900	A549	lung:	n/a	n/a
46	CTCF	chr12:85549716-85549830	Gliobla	brain:	n/a	n/a
47	CTCF	chr12:85549720-85549870	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr12:85549680-85549830	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr12:85549620-85549770	BE2_C	brain:	n/a	n/a
50	CTCF	chr12:85549443-85549980	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:85550574..85552513-chr12:85557330..85559057,2	MCF-7	breast:
2	chr12:85549530..85550247-chr12:86266080..86266618,2	MCF-7	breast:
3	chr12:85549075..85550214-chr12:85841829..85842800,6	MCF-7	breast:
4	chr12:85550574..85552513-chr12:85557330..85559057,2	MCF-7	breast:
5	chr12:85625880..85629090-chr12:85630770..85633051,3	K562	blood:
6	chr12:85549387..85549978-chr12:85835659..85836204,2	MCF-7	breast:
7	chr12:85625880..85629090-chr12:85630770..85633051,3	K562	blood:
8	chr12:85535998..85538330-chr12:85580098..85581911,2	K562	blood:

No data

Variant related genes	Relation type
LRRIQ1	TF binding region

Extended variants
information (count: 1133 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1133 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536902564	chr12:85547812-85547813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186667018	chr12:85547835-85547836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs193214509	chr12:85547850-85547851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370379672	chr12:85547887-85547888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374099716	chr12:85547904-85547905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs529677472	chr12:85547909-85547910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185722429	chr12:85547923-85547924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558554435	chr12:85547938-85547939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576913554	chr12:85547947-85547948	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145519822	chr12:85547986-85547987	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548060434	chr12:85548018-85548019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs57830834	chr12:85548020-85548021	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566398717	chr12:85548038-85548039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139515514	chr12:85548048-85548049	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552724466	chr12:85548060-85548061	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527594777	chr12:85548071-85548072	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200995185	chr12:85548076-85548077	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201646134	chr12:85548077-85548078	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200446638	chr12:85548081-85548082	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs398040012	chr12:85548082-85548083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs542068327	chr12:85548083-85548084	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563427484	chr12:85548107-85548108	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188568883	chr12:85548184-85548185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145236285	chr12:85548186-85548187	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564086624	chr12:85548220-85548221	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs74114211	chr12:85548373-85548374	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115442419	chr12:85548410-85548411	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570626475	chr12:85548438-85548439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs147613901	chr12:85548495-85548496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs61539171	chr12:85548643-85548644	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112654433	chr12:85548698-85548699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548807978	chr12:85548704-85548705	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570228585	chr12:85548708-85548709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537780390	chr12:85548713-85548714	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552120850	chr12:85548853-85548854	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201093952	chr12:85548854-85548855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs556658359	chr12:85548857-85548858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs142310289	chr12:85548892-85548893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs553061848	chr12:85548916-85548917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574918113	chr12:85548935-85548936	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535289008	chr12:85549007-85549008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs35858431	chr12:85549009-85549010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7132143	chr12:85549019-85549020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs192969548	chr12:85549056-85549057	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs372921149	chr12:85549058-85549059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs546139616	chr12:85549065-85549066	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs118114151	chr12:85549084-85549085	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543708500	chr12:85549089-85549090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535878551	chr12:85549128-85549129	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs572884973	chr12:85549193-85549194	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85547800-85550000	Active TSS	Fetal Kidney	kidney
2	chr12:85549200-85549400	Enhancers	Hela-S3	cervix
3	chr12:85549400-85549800	Flanking Active TSS	Hela-S3	cervix
4	chr12:85549800-85550400	Enhancers	Hela-S3	cervix
5	chr12:85550000-85551400	Active TSS	A549	lung
6	chr12:85550400-85550600	Weak transcription	Hela-S3	cervix
7	chr12:85550600-85551200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:85550600-85551200	Enhancers	HUVEC	blood vessel
9	chr12:85550600-85551600	Active TSS	Hela-S3	cervix
10	chr12:85550800-85551800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:85551600-85557200	Weak transcription	Hela-S3	cervix
12	chr12:85557200-85557400	Enhancers	Hela-S3	cervix
13	chr12:85557400-85557800	Weak transcription	Hela-S3	cervix
14	chr12:85557800-85558400	Enhancers	Hela-S3	cervix
15	chr12:85560200-85573000	Weak transcription	Fetal Kidney	kidney
16	chr12:85568800-85569200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:85571200-85571600	Enhancers	HUVEC	blood vessel
18	chr12:85571600-85571800	Enhancers	Hela-S3	cervix
19	chr12:85571600-85573000	Weak transcription	HUVEC	blood vessel
20	chr12:85572000-85573200	Weak transcription	Hela-S3	cervix
21	chr12:85573000-85573600	Enhancers	A549	lung
22	chr12:85573000-85573800	Enhancers	Fetal Kidney	kidney
23	chr12:85573000-85574800	Enhancers	HUVEC	blood vessel
24	chr12:85573200-85574600	Enhancers	Hela-S3	cervix
25	chr12:85573400-85574000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:85573400-85574000	Enhancers	Fetal Lung	lung
27	chr12:85573400-85574000	Enhancers	NH-A	brain
28	chr12:85573400-85574200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:85573600-85574000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:85573600-85574000	Flanking Active TSS	A549	lung
31	chr12:85573800-85577400	Weak transcription	Fetal Kidney	kidney
32	chr12:85574000-85574200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:85574000-85574400	Enhancers	A549	lung
34	chr12:85574000-85576400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:85574400-85576200	Weak transcription	A549	lung
36	chr12:85574600-85582200	Weak transcription	Hela-S3	cervix
37	chr12:85574800-85582200	Weak transcription	HUVEC	blood vessel
38	chr12:85576200-85576400	Enhancers	A549	lung
39	chr12:85576400-85576600	Flanking Active TSS	A549	lung
40	chr12:85576400-85576800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:85576600-85577000	Active TSS	A549	lung
42	chr12:85577000-85580000	Weak transcription	A549	lung
43	chr12:85577400-85577800	Enhancers	Fetal Kidney	kidney
44	chr12:85580000-85580600	Enhancers	A549	lung
45	chr12:85580600-85581400	Weak transcription	A549	lung
46	chr12:85582200-85582600	Enhancers	HUVEC	blood vessel
47	chr12:85582200-85583000	Enhancers	Hela-S3	cervix
48	chr12:85582600-85582800	Enhancers	A549	lung
49	chr12:85609800-85610200	Active TSS	Gastric	stomach
50	chr12:85619200-85620200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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