Variant report

Variant	esv1797806
Chromosome Location	chr12:86198935-86425608
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	chr12:86215439-86216042	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:86317664-86317902	HepG2	liver:	n/a	n/a
3	ATF2	chr12:86267833-86268209	GM12878	blood:	n/a	n/a
4	ATF2	chr12:86267846-86268296	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr12:86215330-86216088	A549	lung:	n/a	chr12:86215353-86215362
6	BHLHE40	chr12:86215633-86215635	HepG2	liver:	n/a	n/a
7	BHLHE40	chr12:86261009-86261260	GM12878	blood:	n/a	n/a
8	BRCA1	chr12:86261140-86261219	GM12878	blood:	n/a	n/a
9	BRCA1	chr12:86268124-86268259	GM12878	blood:	n/a	n/a
10	BRCA1	chr12:86229275-86230390	Hela-S3	cervix:	n/a	chr12:86229554-86229561
11	BRCA1	chr12:86227791-86228570	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr12:86215072-86216259	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr12:86217593-86217944	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr12:86227642-86228559	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:86339876-86340044	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:86216928-86217980	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr12:86215602-86216110	MCF-7	breast:	n/a	chr12:86215834-86215843 chr12:86215832-86215843
18	CEBPB	chr12:86214079-86214517	A549	lung:	n/a	chr12:86214283-86214296
19	CEBPB	chr12:86229967-86230337	HepG2	liver:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
20	CEBPB	chr12:86420707-86420864	IMR90	lung:	n/a	n/a
21	CEBPB	chr12:86230000-86230366	HepG2	liver:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
22	CEBPB	chr12:86291169-86291457	A549	lung:	n/a	chr12:86291299-86291310
23	CEBPB	chr12:86235090-86235358	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr12:86214101-86214384	HepG2	liver:	n/a	chr12:86214283-86214296
25	CEBPB	chr12:86213874-86214438	Hela-S3	cervix:	n/a	chr12:86214283-86214296
26	CEBPB	chr12:86229989-86230326	IMR90	lung:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
27	CEBPB	chr12:86229901-86230389	A549	lung:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
28	CEBPB	chr12:86215613-86216055	A549	lung:	n/a	chr12:86215834-86215843 chr12:86215832-86215843
29	CEBPB	chr12:86203810-86203816	A549	lung:	n/a	n/a
30	CEBPB	chr12:86227052-86227437	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr12:86229931-86230346	ECC-1	luminal epithelium:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
32	CEBPB	chr12:86373817-86374059	A549	lung:	n/a	n/a
33	CEBPB	chr12:86313952-86314166	HepG2	liver:	n/a	chr12:86314124-86314135 chr12:86314122-86314135
34	CEBPB	chr12:86227120-86227320	HepG2	liver:	n/a	n/a
35	CEBPB	chr12:86401103-86401271	HepG2	liver:	n/a	chr12:86401153-86401164
36	CEBPB	chr12:86229126-86230531	Hela-S3	cervix:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
37	CEBPB	chr12:86229803-86230626	A549	lung:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
38	CEBPB	chr12:86229956-86230339	HepG2	liver:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
39	CEBPB	chr12:86204534-86204695	HepG2	liver:	n/a	chr12:86204547-86204558 chr12:86204638-86204651
40	CEBPB	chr12:86229902-86230485	A549	lung:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
41	CEBPB	chr12:86229778-86230418	ECC-1	luminal epithelium:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155
42	CEBPB	chr12:86215613-86216011	HepG2	liver:	n/a	chr12:86215834-86215843 chr12:86215832-86215843
43	CEBPB	chr12:86215581-86216059	A549	lung:	n/a	chr12:86215834-86215843 chr12:86215832-86215843
44	CEBPB	chr12:86215647-86216083	H1-hESC	embryonic stem cell:	n/a	chr12:86215834-86215843 chr12:86215832-86215843
45	CEBPB	chr12:86272459-86272539	A549	lung:	n/a	n/a
46	CEBPB	chr12:86214056-86214384	A549	lung:	n/a	chr12:86214283-86214296
47	CEBPB	chr12:86214106-86214370	IMR90	lung:	n/a	chr12:86214283-86214296
48	CEBPB	chr12:86222891-86223471	Hela-S3	cervix:	n/a	chr12:86223285-86223296 chr12:86223280-86223297
49	CEBPB	chr12:86201477-86201788	Hela-S3	cervix:	n/a	chr12:86201645-86201662
50	CEBPB	chr12:86229921-86230267	MCF-7	breast:	n/a	chr12:86230145-86230156 chr12:86230146-86230155 chr12:86230144-86230155

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:86230957-86231007	HNPCEpiC	eye:	n/a
2	chr12:86230557-86230607	HCF	heart:	n/a
3	chr12:86342281-86342331	GM19239	blood:	n/a
4	chr12:86230825-86230875	RPTEC	kidney:	n/a
5	chr12:86268154-86268204	Hepatocyte	liver:	n/a
6	chr12:86268154-86268204	HMEC	breast:	n/a
7	chr12:86230957-86231007	AG09309	skin:	n/a
8	chr12:86342281-86342331	BJ	skin:	n/a
9	chr12:86267881-86267931	HCT-116	colon:	n/a
10	chr12:86230557-86230607	BJ	skin:	n/a
11	chr12:86230957-86231007	NB4	blood:	n/a
12	chr12:86230825-86230875	ProgFib	skin:	n/a
13	chr12:86342281-86342331	SK-N-SH_RA	brain:	n/a
14	chr12:86230176-86230226	HCPEpiC	choroid plexus:	n/a
15	chr12:86342281-86342331	GM06990	blood:	n/a
16	chr12:86268154-86268204	Caco-2	colon:	n/a
17	chr12:86267881-86267931	HCF	heart:	n/a
18	chr12:86229804-86229854	AG04449	skin:	fetal
19	chr12:86230093-86230143	ProgFib	skin:	n/a
20	chr12:86342281-86342331	AG09309	skin:	n/a
21	chr12:86230957-86231007	PFSK-1	brain:	n/a
22	chr12:86240461-86240511	BJ	skin:	n/a
23	chr12:86267839-86267889	AG09319	gingival:	n/a
24	chr12:86230367-86230417	HRCEpiC	kidney:	n/a
25	chr12:86230825-86230875	MCF-7	breast:	n/a
26	chr12:86229804-86229854	PANC-1	pancreas:	n/a
27	chr12:86230557-86230607	SAEC	small airway:	n/a
28	chr12:86267839-86267889	NH-A	brain:	n/a
29	chr12:86230093-86230143	HL-60	blood:	n/a
30	chr12:86267839-86267889	HRCEpiC	kidney:	n/a
31	chr12:86240461-86240511	U87	brain:	n/a
32	chr12:86229804-86229854	T-47D	breast:	n/a
33	chr12:86342281-86342331	HNPCEpiC	eye:	n/a
34	chr12:86230957-86231007	GM06990	blood:	n/a
35	chr12:86229804-86229854	HCT-116	colon:	n/a
36	chr12:86230176-86230226	LNCaP	prostate:	n/a
37	chr12:86240461-86240511	HRE	kidney:	n/a
38	chr12:86229804-86229854	GM12892	blood:	n/a
39	chr12:86229804-86229854	RPTEC	kidney:	n/a
40	chr12:86230093-86230143	A549	lung:	n/a
41	chr12:86268154-86268204	HL-60	blood:	n/a
42	chr12:86230557-86230607	ovcar-3	ovarian:	n/a
43	chr12:86230957-86231007	K562	blood:	n/a
44	chr12:86268154-86268204	RPTEC	kidney:	n/a
45	chr12:86230093-86230143	Caco-2	colon:	n/a
46	chr12:86230176-86230226	SK-N-MC	brain:	n/a
47	chr12:86267839-86267889	PFSK-1	brain:	n/a
48	chr12:86230825-86230875	IMR90	lung:	fetal
49	chr12:86267881-86267931	GM19239	blood:	n/a
50	chr12:86230825-86230875	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:86229619..86230190-chr5:141302910..141303768,2	Hela-S3	cervix:
2	chr1:17231343..17232131-chr12:86274804..86275322,2	Hela-S3	cervix:
3	chr12:85861848..85863045-chr12:86266253..86266913,4	MCF-7	breast:
4	chr12:86210558..86212149-chr21:9825340..9827489,2	MCF-7	breast:
5	chr12:86348557..86349487-chr12:88241812..88242801,2	MCF-7	breast:
6	chr12:86317858..86318633-chr12:86345266..86346124,2	MCF-7	breast:
7	chr12:86398397..86398897-chr12:93280846..93281597,2	K562	blood:
8	chr12:85549530..85550247-chr12:86266080..86266618,2	MCF-7	breast:
9	chr12:85470175..85471007-chr12:86313905..86314467,2	MCF-7	breast:
10	chr12:86212969..86215091-chr12:86229770..86232108,2	K562	blood:
11	chr12:85862041..85863123-chr12:86313866..86314895,4	MCF-7	breast:
12	chr12:86207996..86208525-chr12:86266396..86266910,2	MCF-7	breast:
13	chr12:86416679..86418710-chr12:86418948..86421586,2	MCF-7	breast:
14	chr12:86365669..86366250-chr12:86579981..86580554,2	MCF-7	breast:
15	chr12:86317858..86318633-chr12:86345266..86346124,2	MCF-7	breast:
16	chr12:86416679..86418710-chr12:86418948..86421586,2	MCF-7	breast:
17	chr12:85870710..85871639-chr12:86266180..86266857,2	MCF-7	breast:
18	chr12:85470481..85471011-chr12:86260831..86261575,2	MCF-7	breast:
19	chr12:52316334..52317215-chr12:86277467..86277976,2	Hela-S3	cervix:
20	chr12:86243212..86244125-chr15:53990318..53991124,2	MCF-7	breast:
21	chr12:86317272..86318172-chr12:86345555..86346156,3	MCF-7	breast:
22	chr12:86207996..86208525-chr12:86266396..86266910,2	MCF-7	breast:
23	chr12:85969245..85970171-chr12:86260729..86261622,3	MCF-7	breast:
24	chr12:85870834..85871570-chr12:86260678..86261344,3	MCF-7	breast:
25	chr12:86317272..86318172-chr12:86345555..86346156,3	MCF-7	breast:
26	chr12:85818413..85819196-chr12:86313771..86314708,2	K562	blood:
27	chr12:85818820..85819361-chr12:86313812..86314794,3	MCF-7	breast:
28	chr12:85968890..85970646-chr12:86260113..86261752,8	MCF-7	breast:
29	chr12:85972333..85972969-chr12:86260657..86261419,2	MCF-7	breast:
30	chr12:86276199..86276762-chr6:26271471..26272035,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NTS-2	chr12:86409475-86410219	NONHSAT029761
2	lnc-MGAT4C-1	chr12:86421882-86421982	NONHSAT029760
3	lnc-MGAT4C-1	chr12:86407459-86407536	NONHSAT029759
4	lnc-MGAT4C-1	chr12:86396130-86396256	NONHSAT029759
5	lnc-NTS-1	chr12:86354344-86354725	ENSG00000258178
6	lnc-MGAT4C-1	chr12:86407459-86407536	NONHSAT029760
7	lnc-MGAT4C-1	chr12:86405578-86405680	NONHSAT029760
8	lnc-NTS-1	chr12:86352465-86353340	ENSG00000258178

Variant related genes	Relation type
RASSF9	TF binding region
MGAT4C	TF binding region
ENSG00000258178	TF binding region
NTS	TF binding region
ENSG00000257897	TF binding region
RASSF9	CpG island
MGAT4C	CpG island
ENSG00000258178	CpG island
NTS	CpG island
ENSG00000257897	CpG island
ENSG00000264462	chromatin interactions
ENSG00000081791	chromatin interactions
ENSG00000256018	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000198774	chromatin interactions

Extended variants
information (count: 4887 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:4887 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7397266	chr12:86198935-86198936	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369886202	chr12:86198958-86198959	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189624256	chr12:86198959-86198960	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569219332	chr12:86198973-86198974	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs34395135	chr12:86198975-86198976	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533162211	chr12:86199015-86199016	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375708319	chr12:86199018-86199019	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200912923	chr12:86199060-86199061	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551282123	chr12:86199066-86199067	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199576709	chr12:86199114-86199115	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs182354370	chr12:86199130-86199131	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201245431	chr12:86199151-86199152	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs117577894	chr12:86199152-86199153	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs368208628	chr12:86199153-86199154	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371263269	chr12:86199173-86199174	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34458939	chr12:86199210-86199211	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199742267	chr12:86199234-86199235	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs267603704	chr12:86199236-86199237	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182093149	chr12:86199247-86199248	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367820212	chr12:86199274-86199275	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200777764	chr12:86199291-86199292	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187203747	chr12:86199292-86199293	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200018440	chr12:86199293-86199294	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202079177	chr12:86199298-86199299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556230743	chr12:86199299-86199300	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371981200	chr12:86199305-86199306	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375189920	chr12:86199318-86199319	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369392392	chr12:86199325-86199326	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373584269	chr12:86199335-86199336	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143607356	chr12:86199336-86199337	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369261769	chr12:86199358-86199359	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540074167	chr12:86199391-86199392	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191094027	chr12:86199409-86199410	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573615562	chr12:86199418-86199419	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376915903	chr12:86199432-86199433	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114311849	chr12:86199437-86199438	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373485513	chr12:86199450-86199451	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377683903	chr12:86199459-86199460	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559490591	chr12:86199462-86199463	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562341468	chr12:86199472-86199473	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202161144	chr12:86199482-86199483	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181512475	chr12:86199499-86199500	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368582831	chr12:86199529-86199530	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371413533	chr12:86199535-86199536	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148047831	chr12:86199536-86199537	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7484937	chr12:86199537-86199538	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367564230	chr12:86199543-86199544	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200958553	chr12:86199585-86199586	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375931531	chr12:86199592-86199593	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374945809	chr12:86199599-86199600	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86191400-86207400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:86194200-86214000	Weak transcription	HMEC	breast
3	chr12:86196600-86199200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:86197000-86199200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:86197000-86199800	Enhancers	NH-A	brain
6	chr12:86197000-86207800	Weak transcription	Fetal Heart	heart
7	chr12:86197200-86199400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:86197400-86199000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:86197400-86207800	Weak transcription	Right Ventricle	heart
10	chr12:86197600-86214600	Weak transcription	HUVEC	blood vessel
11	chr12:86197800-86199000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:86197800-86199800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:86197800-86200200	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:86197800-86200400	Weak transcription	Fetal Intestine Large	intestine
15	chr12:86197800-86200400	Weak transcription	Lung	lung
16	chr12:86198000-86200400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:86198200-86199200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:86198400-86199400	Genic enhancers	Hela-S3	cervix
19	chr12:86198400-86199600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:86198400-86199600	Flanking Active TSS	HSMMtube	muscle
21	chr12:86198400-86199800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr12:86198400-86199800	Strong transcription	Adipose Nuclei	Adipose
23	chr12:86198600-86199200	Enhancers	Aorta	Aorta
24	chr12:86198600-86199800	Strong transcription	Left Ventricle	heart
25	chr12:86198600-86199800	Active TSS	NHDF-Ad	bronchial
26	chr12:86198800-86199200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:86198800-86199200	Flanking Active TSS	Ovary	ovary
28	chr12:86198800-86199600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:86198800-86199600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:86198800-86199600	Enhancers	Fetal Stomach	stomach
31	chr12:86198800-86199600	Flanking Active TSS	HSMM	muscle
32	chr12:86198800-86199600	Genic enhancers	NHEK	skin
33	chr12:86198800-86199800	Flanking Active TSS	Osteobl	bone
34	chr12:86199000-86199200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:86199000-86199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:86199000-86199600	Active TSS	NHLF	lung
37	chr12:86199000-86199800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:86199200-86199400	Active TSS	Ovary	ovary
39	chr12:86199200-86199600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:86199200-86199800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:86199200-86199800	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:86199200-86199800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:86199200-86200000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:86199200-86200800	Weak transcription	Aorta	Aorta
45	chr12:86199200-86203400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:86199400-86199800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:86199400-86199800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:86199400-86199800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:86199400-86199800	Strong transcription	Hela-S3	cervix
50	chr12:86199600-86199800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links