Variant report

Variant	nsv455672
Chromosome Location	chr12:85522932-85566208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:85536088-85536377	HepG2	liver:	n/a	chr12:85536185-85536196
2	CEBPB	chr12:85551145-85551452	A549	lung:	n/a	n/a
3	CEBPB	chr12:85536096-85536348	A549	lung:	n/a	chr12:85536185-85536196
4	CTCF	chr12:85549630-85549856	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr12:85549597-85549985	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:85550521-85550575	GM10248	blood:	n/a	chr12:85550533-85550554
7	CTCF	chr12:85562317-85562433	GM10248	blood:	n/a	n/a
8	CTCF	chr12:85549644-85549848	A549	lung:	n/a	n/a
9	CTCF	chr12:85549660-85549810	NB4	blood:	n/a	n/a
10	CTCF	chr12:85549760-85549910	HEK293	kidney:	n/a	n/a
11	CTCF	chr12:85549693-85549818	GM10248	blood:	n/a	n/a
12	CTCF	chr12:85550454-85550619	A549	lung:	n/a	chr12:85550533-85550554
13	CTCF	chr12:85549600-85549750	HFF	foreskin:	n/a	n/a
14	CTCF	chr12:85550480-85550630	HUVEC	blood vessel:	n/a	chr12:85550533-85550554
15	CTCF	chr12:85549636-85549890	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr12:85549680-85549830	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr12:85549720-85549870	HepG2	liver:	n/a	n/a
18	CTCF	chr12:85549352-85550081	A549	lung:	n/a	n/a
19	CTCF	chr12:85549709-85549808	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr12:85549760-85549789	HepG2	liver:	n/a	n/a
21	CTCF	chr12:85549585-85549932	GM12878	blood:	n/a	n/a
22	CTCF	chr12:85549623-85549912	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr12:85550458-85550639	A549	lung:	n/a	chr12:85550533-85550554
24	CTCF	chr12:85549800-85549950	NHEK	skin:	n/a	n/a
25	CTCF	chr12:85549640-85549790	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr12:85549680-85549830	HCT-116	colon:	n/a	n/a
27	CTCF	chr12:85549685-85549819	GM13977	blood:	n/a	n/a
28	CTCF	chr12:85549640-85549790	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:85549540-85549690	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr12:85549680-85549830	HRE	kidney:	n/a	n/a
31	CTCF	chr12:85549600-85549750	A549	lung:	n/a	n/a
32	CTCF	chr12:85549680-85549830	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr12:85549540-85549690	HCT-116	colon:	n/a	n/a
34	CTCF	chr12:85549587-85549919	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr12:85549485-85550006	HCT-116	colon:	n/a	n/a
36	CTCF	chr12:85549595-85549987	HCT-116	colon:	n/a	n/a
37	CTCF	chr12:85549680-85549830	AG10803	skin:	n/a	n/a
38	CTCF	chr12:85550540-85550690	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr12:85549640-85549790	HMEC	breast:	n/a	n/a
40	CTCF	chr12:85549548-85549900	A549	lung:	n/a	n/a
41	CTCF	chr12:85550524-85550583	MCF-7	breast:	n/a	chr12:85550533-85550554
42	CTCF	chr12:85550560-85550710	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:85537065-85537096	GM10266	blood:	n/a	n/a
44	CTCF	chr12:85549660-85549810	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr12:85549720-85549870	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr12:85549680-85549830	HMEC	breast:	n/a	n/a
47	CTCF	chr12:85549443-85549980	SK-N-SH	brain:	n/a	n/a
48	CTCF	chr12:85549660-85549810	AG10803	skin:	n/a	n/a
49	CTCF	chr12:85549620-85549770	HVMF	connective:	n/a	n/a
50	CTCF	chr12:85549680-85549830	WERI-Rb-1	eye:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
LRRIQ1	TF binding region

Extended variants
information (count: 590 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533432636	chr12:85527808-85527809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549386499	chr12:85527825-85527826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1690835	chr12:85527897-85527898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566828805	chr12:85527989-85527990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146662917	chr12:85527995-85527996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190287046	chr12:85528025-85528026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140307166	chr12:85528051-85528052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577817848	chr12:85528143-85528144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181250599	chr12:85528224-85528225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185892355	chr12:85528281-85528282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188203720	chr12:85528308-85528309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539138363	chr12:85528375-85528376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553787664	chr12:85528385-85528386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7137906	chr12:85528393-85528394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571970282	chr12:85528456-85528457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542249546	chr12:85528475-85528476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180996103	chr12:85528508-85528509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560986073	chr12:85528516-85528517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575711839	chr12:85528520-85528521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543149802	chr12:85528523-85528524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371807273	chr12:85528551-85528552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185381536	chr12:85528565-85528566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533369574	chr12:85528566-85528567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559805161	chr12:85531419-85531420	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77919111	chr12:85531432-85531433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547978745	chr12:85531456-85531457	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs144760886	chr12:85531457-85531458	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544729553	chr12:85531465-85531466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530697779	chr12:85531503-85531504	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79726589	chr12:85531581-85531582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369626012	chr12:85531607-85531608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs373547571	chr12:85531653-85531654	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs61740224	chr12:85531684-85531685	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370228797	chr12:85531699-85531700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs77956957	chr12:85531701-85531702	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs373789577	chr12:85531730-85531731	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375619640	chr12:85531755-85531756	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs200268546	chr12:85531756-85531757	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs193184948	chr12:85531761-85531762	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555189483	chr12:85531789-85531790	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs168615	chr12:85531790-85531791	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536902564	chr12:85547812-85547813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186667018	chr12:85547835-85547836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs193214509	chr12:85547850-85547851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs370379672	chr12:85547887-85547888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs374099716	chr12:85547904-85547905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs529677472	chr12:85547909-85547910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs185722429	chr12:85547923-85547924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558554435	chr12:85547938-85547939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs576913554	chr12:85547947-85547948	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85527800-85528200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:85527800-85528400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:85527800-85528400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:85528000-85528600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:85531400-85531800	Active TSS	Fetal Kidney	kidney
6	chr12:85547800-85550000	Active TSS	Fetal Kidney	kidney
7	chr12:85549200-85549400	Enhancers	Hela-S3	cervix
8	chr12:85549400-85549800	Flanking Active TSS	Hela-S3	cervix
9	chr12:85549800-85550400	Enhancers	Hela-S3	cervix
10	chr12:85550000-85551400	Active TSS	A549	lung
11	chr12:85550400-85550600	Weak transcription	Hela-S3	cervix
12	chr12:85550600-85551200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:85550600-85551200	Enhancers	HUVEC	blood vessel
14	chr12:85550600-85551600	Active TSS	Hela-S3	cervix
15	chr12:85550800-85551800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:85551600-85557200	Weak transcription	Hela-S3	cervix
17	chr12:85557200-85557400	Enhancers	Hela-S3	cervix
18	chr12:85557400-85557800	Weak transcription	Hela-S3	cervix
19	chr12:85557800-85558400	Enhancers	Hela-S3	cervix
20	chr12:85560200-85573000	Weak transcription	Fetal Kidney	kidney

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