Variant report

Variant	nsv534954
Chromosome Location	chr1:47007765-47062737
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	chr1:47045945-47046419	HepG2	liver:	n/a	n/a
2	ATF1	chr1:47048676-47048980	K562	blood:	n/a	n/a
3	ATF1	chr1:47060945-47061249	K562	blood:	n/a	n/a
4	ATF1	chr1:47010421-47010912	K562	blood:	n/a	n/a
5	ATF1	chr1:47046294-47046511	K562	blood:	n/a	n/a
6	ATF1	chr1:47047399-47047856	K562	blood:	n/a	n/a
7	ATF3	chr1:47010592-47010880	K562	blood:	n/a	chr1:47010767-47010777
8	BACH1	chr1:47060942-47060990	K562	blood:	n/a	n/a
9	BATF	chr1:47032323-47032467	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:47013382-47014007	K562	blood:	n/a	n/a
11	BHLHE40	chr1:47010390-47011163	K562	blood:	n/a	n/a
12	BHLHE40	chr1:47022464-47022843	K562	blood:	n/a	n/a
13	BHLHE40	chr1:47047554-47047863	K562	blood:	n/a	n/a
14	BHLHE40	chr1:47060991-47061154	K562	blood:	n/a	n/a
15	BHLHE40	chr1:47048683-47049007	K562	blood:	n/a	n/a
16	BRCA1	chr1:47037592-47037614	GM12878	blood:	n/a	n/a
17	BRCA1	chr1:47013743-47014000	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr1:47010306-47011153	K562	blood:	n/a	n/a
19	CCNT2	chr1:47048728-47048910	K562	blood:	n/a	chr1:47048760-47048780
20	CCNT2	chr1:47010378-47010973	K562	blood:	n/a	chr1:47010396-47010405 chr1:47010702-47010722 chr1:47010676-47010685
21	CEBPB	chr1:47024944-47025074	K562	blood:	n/a	chr1:47024996-47025007 chr1:47024996-47025007 chr1:47024997-47025008 chr1:47024996-47025009
22	CEBPB	chr1:47047543-47047866	K562	blood:	n/a	chr1:47047734-47047745
23	CEBPB	chr1:47044794-47044878	K562	blood:	n/a	chr1:47044824-47044835
24	CEBPB	chr1:47053946-47054211	K562	blood:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
25	CEBPB	chr1:47044730-47044967	HepG2	liver:	n/a	chr1:47044824-47044835
26	CEBPB	chr1:47047584-47047858	K562	blood:	n/a	chr1:47047734-47047745
27	CEBPB	chr1:47010486-47010889	K562	blood:	n/a	n/a
28	CEBPB	chr1:47020986-47021305	K562	blood:	n/a	chr1:47021127-47021138
29	CEBPB	chr1:47053978-47054220	H1-hESC	embryonic stem cell:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
30	CEBPB	chr1:47024965-47025056	IMR90	lung:	n/a	chr1:47024996-47025007 chr1:47024996-47025007 chr1:47024997-47025008 chr1:47024996-47025009
31	CEBPB	chr1:47021057-47021235	HepG2	liver:	n/a	chr1:47021127-47021138
32	CEBPB	chr1:47052798-47052946	HepG2	liver:	n/a	chr1:47052824-47052835 chr1:47052823-47052834 chr1:47052823-47052836
33	CEBPB	chr1:47053963-47054287	Hela-S3	cervix:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
34	CEBPB	chr1:47024991-47025017	HepG2	liver:	n/a	chr1:47024996-47025007 chr1:47024996-47025007 chr1:47024997-47025008 chr1:47024996-47025009
35	CEBPB	chr1:47052798-47052838	K562	blood:	n/a	chr1:47052824-47052835 chr1:47052823-47052834 chr1:47052823-47052836
36	CEBPB	chr1:47047533-47047934	K562	blood:	n/a	chr1:47047734-47047745
37	CEBPB	chr1:47010483-47010855	K562	blood:	n/a	n/a
38	CEBPB	chr1:47031618-47031913	K562	blood:	n/a	chr1:47031792-47031803
39	CEBPB	chr1:47053954-47054320	IMR90	lung:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
40	CEBPB	chr1:47053895-47054286	A549	lung:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
41	CEBPB	chr1:47007834-47008041	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr1:47031620-47031904	IMR90	lung:	n/a	chr1:47031792-47031803
43	CEBPB	chr1:47053960-47054303	K562	blood:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
44	CEBPB	chr1:47007914-47007952	K562	blood:	n/a	n/a
45	CEBPB	chr1:47031603-47031913	HepG2	liver:	n/a	chr1:47031792-47031803
46	CEBPB	chr1:47053964-47054306	HepG2	liver:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
47	CEBPB	chr1:47022494-47022876	IMR90	lung:	n/a	n/a
48	CEBPB	chr1:47053972-47054321	A549	lung:	n/a	chr1:47054137-47054148 chr1:47054138-47054147 chr1:47054136-47054149 chr1:47054138-47054147 chr1:47054138-47054147 chr1:47054136-47054149
49	CEBPD	chr1:47010361-47011075	K562	blood:	n/a	n/a
50	CEBPD	chr1:47010407-47010970	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47018319-47018369	GM12892	blood:	n/a
2	chr1:47018319-47018369	GM12892	blood:	n/a
3	chr1:47060074-47060124	LNCaP	prostate:	n/a
4	chr1:47017388-47017438	CMK	blood:	n/a
5	chr1:47009809-47009859	CMK	blood:	n/a
6	chr1:47013178-47013228	BE2_C	brain:	n/a
7	chr1:47010223-47010273	LNCaP	prostate:	n/a
8	chr1:47013178-47013228	AG09319	gingival:	n/a
9	chr1:47015494-47015544	H1-hESC	embryonic stem cell:	embryo
10	chr1:47013178-47013228	NT2-D1	testis:	n/a
11	chr1:47016980-47017030	BE2_C	brain:	n/a
12	chr1:47035315-47035365	AoSMC	blood vessel:	n/a
13	chr1:47017388-47017438	HRPEpiC	eye:	n/a
14	chr1:47016980-47017030	HRE	kidney:	n/a
15	chr1:47010131-47010181	IMR90	lung:	fetal
16	chr1:47016980-47017030	U87	brain:	n/a
17	chr1:47060074-47060124	ovcar-3	ovarian:	n/a
18	chr1:47017388-47017438	ProgFib	skin:	n/a
19	chr1:47035315-47035365	NHBE	bronchial:	n/a
20	chr1:47010223-47010273	GM12891	blood:	n/a
21	chr1:47009809-47009859	GM12892	blood:	n/a
22	chr1:47009527-47009577	HNPCEpiC	eye:	n/a
23	chr1:47009809-47009859	Hepatocyte	liver:	n/a
24	chr1:47016749-47016799	NHBE	bronchial:	n/a
25	chr1:47018319-47018369	HRPEpiC	eye:	n/a
26	chr1:47018177-47018227	ProgFib	skin:	n/a
27	chr1:47016749-47016799	T-47D	breast:	n/a
28	chr1:47023134-47023184	PFSK-1	brain:	n/a
29	chr1:47060645-47060695	HCPEpiC	choroid plexus:	n/a
30	chr1:47018177-47018227	GM19239	blood:	n/a
31	chr1:47009707-47009757	U87	brain:	n/a
32	chr1:47060074-47060124	HRE	kidney:	n/a
33	chr1:47009527-47009577	U87	brain:	n/a
34	chr1:47010105-47010155	PANC-1	pancreas:	n/a
35	chr1:47016980-47017030	HCPEpiC	choroid plexus:	n/a
36	chr1:47016114-47016164	K562	blood:	n/a
37	chr1:47015494-47015544	IMR90	lung:	fetal
38	chr1:47018177-47018227	SK-N-SH_RA	brain:	n/a
39	chr1:47009527-47009577	AG04449	skin:	fetal
40	chr1:47017388-47017438	BE2_C	brain:	n/a
41	chr1:47018319-47018369	HRE	kidney:	n/a
42	chr1:47010056-47010106	T-47D	breast:	n/a
43	chr1:47010223-47010273	K562	blood:	n/a
44	chr1:47009707-47009757	AG10803	skin:	n/a
45	chr1:47009809-47009859	HUVEC	blood vessel:	n/a
46	chr1:47016917-47016967	IMR90	lung:	fetal
47	chr1:47060645-47060695	AG04450	lung:	fetal
48	chr1:47016980-47017030	GM19239	blood:	n/a
49	chr1:47016749-47016799	HCPEpiC	choroid plexus:	n/a
50	chr1:47010131-47010181	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr1:47048260..47050517-chr1:47077583..47079223,2	K562	blood:
2	chr1:47052104..47053858-chr1:47055220..47057402,2	K562	blood:
3	chr1:47038329..47041159-chr1:47076859..47079950,3	K562	blood:
4	chr1:47058514..47060124-chr1:47061743..47063610,2	MCF-7	breast:
5	chr1:46948519..46951026-chr1:47010382..47012141,2	K562	blood:
6	chr1:47009141..47012032-chr1:47183376..47185595,2	K562	blood:
7	chr1:47000463..47001603-chr1:47013528..47014314,3	K562	blood:
8	chr1:47016937..47019617-chr1:47020733..47023343,2	K562	blood:
9	chr1:46902494..46904557-chr1:47010678..47013224,2	K562	blood:
10	chr1:47005992..47007886-chr1:47008521..47010850,2	MCF-7	breast:
11	chr1:47036966..47039803-chr1:47043494..47046451,2	K562	blood:
12	chr1:47053775..47056193-chr1:47067460..47069823,2	MCF-7	breast:
13	chr1:46998640..46999596-chr1:47011107..47011755,3	K562	blood:
14	chr1:46942850..46943359-chr1:47013489..47014125,2	MCF-7	breast:
15	chr1:47010945..47013606-chr1:47021921..47023743,2	K562	blood:
16	chr1:47010945..47013606-chr1:47021921..47023743,2	K562	blood:
17	chr1:47053959..47056132-chr1:47066697..47069062,3	K562	blood:
18	chr1:47041717..47044206-chr1:47067000..47069818,2	K562	blood:
19	chr1:47038566..47040285-chr1:47040736..47042855,2	K562	blood:
20	chr1:46996193..46996882-chr1:47013438..47014244,2	MCF-7	breast:
21	chr1:47061375..47064454-chr1:47072882..47074737,3	K562	blood:
22	chr1:46991986..46993647-chr1:47009898..47012752,2	K562	blood:
23	chr1:47020490..47024344-chr1:47028257..47029934,3	K562	blood:
24	chr1:47008373..47012047-chr1:47032869..47035437,3	K562	blood:
25	chr1:47016121..47018633-chr1:47020104..47022596,4	K562	blood:
26	chr1:47040255..47042564-chr1:47053834..47056327,2	K562	blood:
27	chr1:47005992..47007886-chr1:47008521..47010850,2	MCF-7	breast:
28	chr1:46912178..46913125-chr1:47013305..47014328,4	K562	blood:
29	chr1:47050140..47053045-chr1:47054326..47056761,2	MCF-7	breast:
30	chr1:47054104..47055847-chr1:47061988..47063605,2	K562	blood:
31	chr1:47041661..47043778-chr1:47070091..47072496,2	K562	blood:
32	chr1:46907852..46908632-chr1:47013414..47014315,3	MCF-7	breast:
33	chr1:47006434..47008326-chr1:47012216..47013817,2	K562	blood:
34	chr1:47038566..47040285-chr1:47040736..47042855,2	K562	blood:
35	chr1:47022335..47026629-chr1:47028438..47032620,4	K562	blood:
36	chr1:46978011..46980532-chr1:47010338..47012479,2	K562	blood:
37	chr1:47046807..47049306-chr1:47050257..47052291,2	K562	blood:
38	chr1:47040255..47042564-chr1:47053834..47056327,2	K562	blood:
39	chr1:46913820..46916720-chr1:47006698..47008452,2	K562	blood:
40	chr1:47033343..47035201-chr1:47067108..47069992,2	K562	blood:
41	chr1:47023201..47026031-chr1:47173277..47176114,2	K562	blood:
42	chr1:47015863..47022104-chr1:47022936..47029939,8	K562	blood:
43	chr1:47009625..47011332-chr1:47012980..47015452,2	K562	blood:
44	chr1:47054104..47055847-chr1:47061988..47063605,2	K562	blood:
45	chr1:46917777..46919850-chr1:47011713..47013770,2	K562	blood:
46	chr1:46907900..46908616-chr1:47010620..47011226,2	K562	blood:
47	chr1:47012476..47015680-chr1:47016269..47019098,3	K562	blood:
48	chr1:46872939..46873670-chr1:47013367..47013915,2	K562	blood:
49	chr1:47013364..47014237-chr1:47190848..47191491,2	MCF-7	breast:
50	chr1:47052682..47056987-chr1:47061043..47065460,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KNCN-3	chr1:47050176-47050475	NONHSAT003025
2	lnc-DMBX1-2	chr1:47029184-47029248	ENSG00000269956.1
3	lnc-DMBX1-2	chr1:47009366-47009440	ENSG00000269956.1
4	lnc-DMBX1-2	chr1:47025342-47025483	ENSG00000235894
5	lnc-DMBX1-2	chr1:47034154-47035926	ENSG00000235894
6	lnc-DMBX1-2	chr1:47023897-47024014	ENSG00000235894
7	lnc-DMBX1-2	chr1:47033878-47033969	ENSG00000235894
8	lnc-DMBX1-2	chr1:47023897-47024014	ENSG00000269956.1
9	lnc-DMBX1-2	chr1:47009366-47009440	ENSG00000235894
10	lnc-DMBX1-2	chr1:47033878-47033969	ENSG00000269956.1
11	lnc-DMBX1-2	chr1:47029184-47029428	ENSG00000235894
12	lnc-DMBX1-2	chr1:47034154-47035927	ENSG00000269956.1
13	lnc-DMBX1-2	chr1:47025342-47025483	ENSG00000269956.1
14	lnc-KNCN-3	chr1:47051546-47051941	NONHSAT003025

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KNCN	hsa-miR-1	chr1:47012638-47012659

Variant related genes	Relation type
MKNK1	TF binding region
KNCN	TF binding region
MKNK1	CpG island
KNCN	CpG island
ENSG00000117480	chromatin interactions
ENSG00000159658	chromatin interactions
ENSG00000269956	chromatin interactions
ENSG00000162456	chromatin interactions
ENSG00000224863	chromatin interactions
ENSG00000079277	chromatin interactions
ENSG00000142961	chromatin interactions
ENSG00000225667	chromatin interactions
PANK3	miRNA target sites
CREBZF	miRNA target sites
PPP1R15B	miRNA target sites
CDKN1B	miRNA target sites

Extended variants
information (count: 2216 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2216 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565902479	chr1:47007784-47007785	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116293424	chr1:47007816-47007817	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571792218	chr1:47007843-47007844	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2476163	chr1:47007844-47007845	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs58786518	chr1:47007848-47007849	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557918055	chr1:47007880-47007881	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182293116	chr1:47007895-47007896	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577703962	chr1:47007901-47007902	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536941992	chr1:47007904-47007905	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527537323	chr1:47007918-47007919	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143719854	chr1:47007920-47007921	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2486166	chr1:47007987-47007988	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs146517097	chr1:47008014-47008015	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs371187938	chr1:47008019-47008020	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534143039	chr1:47008029-47008030	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147894201	chr1:47008052-47008053	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570742951	chr1:47008114-47008115	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368596799	chr1:47008120-47008121	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141668993	chr1:47008242-47008243	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs12066517	chr1:47008251-47008252	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542895326	chr1:47008275-47008276	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs561055061	chr1:47008303-47008304	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs147480001	chr1:47008308-47008309	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs139889770	chr1:47008310-47008311	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs143203155	chr1:47008311-47008312	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs66617225	chr1:47008312-47008313	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs397818621	chr1:47008313-47008314	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs143742261	chr1:47008337-47008338	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs546833818	chr1:47008358-47008359	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565338802	chr1:47008432-47008433	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs187353419	chr1:47008435-47008436	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs190991216	chr1:47008472-47008473	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs182466667	chr1:47008496-47008497	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs569220210	chr1:47008538-47008539	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs148151157	chr1:47008679-47008680	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs548832535	chr1:47008682-47008683	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs374476833	chr1:47008695-47008696	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs534084799	chr1:47008714-47008715	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs185508170	chr1:47008726-47008727	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs12142727	chr1:47008746-47008747	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190272270	chr1:47008762-47008763	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs539784442	chr1:47008765-47008766	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs549997847	chr1:47008766-47008767	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs575156787	chr1:47008784-47008785	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs12145313	chr1:47008883-47008884	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs114304675	chr1:47008891-47008892	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs573185505	chr1:47008907-47008908	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs182920062	chr1:47008933-47008934	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs12146069	chr1:47008971-47008972	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs1258028	chr1:47008987-47008988	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:1823 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:47004200-47009200	Weak transcription	K562	blood
3	chr1:47006400-47007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:47006400-47007800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:47006600-47007800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:47006800-47008400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:47007400-47009800	Bivalent Enhancer	Fetal Brain Male	brain
8	chr1:47007600-47007800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:47007600-47008000	Bivalent Enhancer	Liver	Liver
10	chr1:47007600-47008000	Bivalent Enhancer	Brain Hippocampus Middle	brain
11	chr1:47007600-47008000	Enhancers	Brain Substantia Nigra	brain
12	chr1:47007600-47008200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:47007600-47008200	Enhancers	Brain Anterior Caudate	brain
14	chr1:47007600-47008600	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:47007600-47008600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:47007800-47008000	Bivalent Enhancer	NH-A	brain
17	chr1:47007800-47008200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:47007800-47008200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:47007800-47008200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:47007800-47008200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:47007800-47008200	Bivalent Enhancer	Fetal Brain Female	brain
22	chr1:47007800-47008400	Bivalent Enhancer	Brain Germinal Matrix	brain
23	chr1:47007800-47008400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:47008200-47008400	Enhancers	Pancreas	Pancrea
25	chr1:47008200-47008600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:47008400-47008600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr1:47008400-47008600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:47008400-47008600	Enhancers	Right Ventricle	heart
29	chr1:47008400-47009600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr1:47008400-47009800	Weak transcription	Pancreas	Pancrea
31	chr1:47008600-47009000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr1:47008600-47009200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:47008600-47009400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:47008800-47009000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
35	chr1:47008800-47009000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr1:47008800-47009200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr1:47008800-47009200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr1:47008800-47009200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:47008800-47009200	Weak transcription	Right Ventricle	heart
40	chr1:47008800-47009400	Bivalent Enhancer	Brain Hippocampus Middle	brain
41	chr1:47008800-47009600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr1:47009000-47009200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
43	chr1:47009000-47009200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr1:47009000-47009200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr1:47009000-47009200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:47009000-47010200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:47009000-47010400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr1:47009200-47009400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr1:47009200-47009400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr1:47009200-47009400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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