Variant report

Variant	nsv1011892
Chromosome Location	chr1:47010519-47067492
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	chr1:47065356-47065411	K562	blood:	n/a	n/a
5	ATF1	chr1:47046294-47046511	K562	blood:	n/a	n/a
6	ATF1	chr1:47010421-47010912	K562	blood:	n/a	n/a
7	ATF1	chr1:47047399-47047856	K562	blood:	n/a	n/a
8	ATF3	chr1:47010592-47010880	K562	blood:	n/a	chr1:47010767-47010777
9	BACH1	chr1:47060942-47060990	K562	blood:	n/a	n/a
10	BATF	chr1:47032323-47032467	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:47022464-47022843	K562	blood:	n/a	n/a
12	BHLHE40	chr1:47010390-47011163	K562	blood:	n/a	n/a
13	BHLHE40	chr1:47048683-47049007	K562	blood:	n/a	n/a
14	BHLHE40	chr1:47013382-47014007	K562	blood:	n/a	n/a
15	BHLHE40	chr1:47060991-47061154	K562	blood:	n/a	n/a
16	BHLHE40	chr1:47047554-47047863	K562	blood:	n/a	n/a
17	BRCA1	chr1:47013743-47014000	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr1:47037592-47037614	GM12878	blood:	n/a	n/a
19	CBX3	chr1:47010306-47011153	K562	blood:	n/a	n/a
20	CCNT2	chr1:47010378-47010973	K562	blood:	n/a	chr1:47010396-47010405 chr1:47010702-47010722 chr1:47010676-47010685
21	CCNT2	chr1:47048728-47048910	K562	blood:	n/a	chr1:47048760-47048780
22	CEBPB	chr1:47031620-47031904	IMR90	lung:	n/a	chr1:47031792-47031803
23	CEBPB	chr1:47047533-47047934	K562	blood:	n/a	chr1:47047734-47047745
24	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
25	CEBPB	chr1:47020986-47021305	K562	blood:	n/a	chr1:47021127-47021138
26	CEBPB	chr1:47052798-47052838	K562	blood:	n/a	chr1:47052824-47052835 chr1:47052823-47052834 chr1:47052823-47052836
27	CEBPB	chr1:47010486-47010889	K562	blood:	n/a	n/a
28	CEBPB	chr1:47024965-47025056	IMR90	lung:	n/a	chr1:47024996-47025007 chr1:47024996-47025007 chr1:47024997-47025008 chr1:47024996-47025009
29	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
30	CEBPB	chr1:47052798-47052946	HepG2	liver:	n/a	chr1:47052824-47052835 chr1:47052823-47052834 chr1:47052823-47052836
31	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
32	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
33	CEBPB	chr1:47022494-47022876	IMR90	lung:	n/a	n/a
34	CEBPB	chr1:47044794-47044878	K562	blood:	n/a	chr1:47044824-47044835
35	CEBPB	chr1:47047543-47047866	K562	blood:	n/a	chr1:47047734-47047745
36	CEBPB	chr1:47031618-47031913	K562	blood:	n/a	chr1:47031792-47031803
37	CEBPB	chr1:47044730-47044967	HepG2	liver:	n/a	chr1:47044824-47044835
38	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
39	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
40	CEBPB	chr1:47024991-47025017	HepG2	liver:	n/a	chr1:47024996-47025007 chr1:47024996-47025007 chr1:47024997-47025008 chr1:47024996-47025009
41	CEBPB	chr1:47047584-47047858	K562	blood:	n/a	chr1:47047734-47047745
42	CEBPB	chr1:47031603-47031913	HepG2	liver:	n/a	chr1:47031792-47031803
43	CEBPB	chr1:47010483-47010855	K562	blood:	n/a	n/a
44	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
45	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
46	CEBPB	chr1:47021057-47021235	HepG2	liver:	n/a	chr1:47021127-47021138
47	CEBPB	chr1:47024944-47025074	K562	blood:	n/a	chr1:47024996-47025007 chr1:47024996-47025007 chr1:47024997-47025008 chr1:47024996-47025009
48	CEBPD	chr1:47010407-47010970	K562	blood:	n/a	n/a
49	CEBPD	chr1:47010361-47011075	K562	blood:	n/a	n/a
50	CHD2	chr1:47010368-47010854	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47060645-47060695	GM19239	blood:	n/a
2	chr1:47041779-47041829	LNCaP	prostate:	n/a
3	chr1:47018177-47018227	PFSK-1	brain:	n/a
4	chr1:47060645-47060695	GM19239	blood:	n/a
5	chr1:47041779-47041829	LNCaP	prostate:	n/a
6	chr1:47018177-47018227	PFSK-1	brain:	n/a
7	chr1:47016749-47016799	Hepatocyte	liver:	n/a
8	chr1:47016917-47016967	HEEpiC	esophagus:	n/a
9	chr1:47015494-47015544	HEEpiC	esophagus:	n/a
10	chr1:47016980-47017030	MCF-7	breast:	n/a
11	chr1:47023134-47023184	NHBE	bronchial:	n/a
12	chr1:47016917-47016967	HCPEpiC	choroid plexus:	n/a
13	chr1:47018319-47018369	AG09309	skin:	n/a
14	chr1:47017388-47017438	HCT-116	colon:	n/a
15	chr1:47018072-47018122	LNCaP	prostate:	n/a
16	chr1:47060074-47060124	MCF10A-Er-Src	breast:	n/a
17	chr1:47017388-47017438	HNPCEpiC	eye:	n/a
18	chr1:47066498-47066548	ProgFib	skin:	n/a
19	chr1:47035315-47035365	HCPEpiC	choroid plexus:	n/a
20	chr1:47016114-47016164	GM06990	blood:	n/a
21	chr1:47013178-47013228	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:47066498-47066548	HL-60	blood:	n/a
23	chr1:47023134-47023184	ECC-1	luminal epithelium:	n/a
24	chr1:47016114-47016164	SK-N-SH	brain:	n/a
25	chr1:47013178-47013228	Jurkat	blood:	n/a
26	chr1:47016980-47017030	PANC-1	pancreas:	n/a
27	chr1:47064750-47064800	Hela-S3	cervix:	n/a
28	chr1:47060074-47060124	AG04450	lung:	fetal
29	chr1:47013178-47013228	LNCaP	prostate:	n/a
30	chr1:47013178-47013228	HEK293	kidney:	embryo
31	chr1:47018319-47018369	Hela-S3	cervix:	n/a
32	chr1:47051752-47051802	HMEC	breast:	n/a
33	chr1:47041779-47041829	NT2-D1	testis:	n/a
34	chr1:47016114-47016164	HCF	heart:	n/a
35	chr1:47016917-47016967	ovcar-3	ovarian:	n/a
36	chr1:47013178-47013228	NHBE	bronchial:	n/a
37	chr1:47060074-47060124	AG09309	skin:	n/a
38	chr1:47018072-47018122	HCPEpiC	choroid plexus:	n/a
39	chr1:47016749-47016799	HEEpiC	esophagus:	n/a
40	chr1:47060645-47060695	HCT-116	colon:	n/a
41	chr1:47013178-47013228	GM06990	blood:	n/a
42	chr1:47060645-47060695	AoSMC	blood vessel:	n/a
43	chr1:47016749-47016799	GM12891	blood:	n/a
44	chr1:47015494-47015544	HEK293	kidney:	embryo
45	chr1:47016917-47016967	SK-N-SH	brain:	n/a
46	chr1:47018177-47018227	GM12878	blood:	n/a
47	chr1:47016917-47016967	Hepatocyte	liver:	n/a
48	chr1:47064750-47064800	NHDF-neo	bronchial:	n/a
49	chr1:47064750-47064800	AG04450	lung:	fetal
50	chr1:47064750-47064800	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47052682..47056987-chr1:47061043..47065460,4	K562	blood:
2	chr1:47015863..47022104-chr1:47022936..47029939,8	K562	blood:
3	chr1:47049449..47051396-chr1:47063094..47066029,3	K562	blood:
4	chr1:47008125..47011332-chr1:47013107..47016538,3	K562	blood:
5	chr1:47048260..47050517-chr1:47077583..47079223,2	K562	blood:
6	chr1:47012476..47015757-chr1:47016043..47020828,4	K562	blood:
7	chr1:47027064..47029429-chr1:47037828..47041063,3	K562	blood:
8	chr1:46948519..46951026-chr1:47010382..47012141,2	K562	blood:
9	chr1:47012476..47015680-chr1:47016269..47019098,3	K562	blood:
10	chr1:47010945..47013606-chr1:47021921..47023743,2	K562	blood:
11	chr1:47005992..47007886-chr1:47008521..47010850,2	MCF-7	breast:
12	chr1:47009141..47012032-chr1:47183376..47185595,2	K562	blood:
13	chr1:46992147..46995347-chr1:47008706..47012363,4	K562	blood:
14	chr1:47050140..47053045-chr1:47054326..47056761,2	MCF-7	breast:
15	chr1:47046807..47049306-chr1:47050257..47052291,2	K562	blood:
16	chr1:47027064..47029429-chr1:47037828..47041063,3	K562	blood:
17	chr1:47038566..47040285-chr1:47040736..47042855,2	K562	blood:
18	chr1:46978011..46980532-chr1:47010338..47012479,2	K562	blood:
19	chr1:47012476..47015680-chr1:47016269..47019098,3	K562	blood:
20	chr1:47016937..47019617-chr1:47020733..47023343,2	K562	blood:
21	chr1:47010945..47013606-chr1:47021921..47023743,2	K562	blood:
22	chr1:46912279..46913279-chr1:47013322..47014314,3	MCF-7	breast:
23	chr1:46907900..46908616-chr1:47010620..47011226,2	K562	blood:
24	chr1:46917777..46919850-chr1:47011713..47013770,2	K562	blood:
25	chr1:47054632..47056967-chr1:47067428..47069828,2	K562	blood:
26	chr1:47009625..47011332-chr1:47012980..47015452,2	K562	blood:
27	chr1:47052104..47053858-chr1:47055220..47057402,2	K562	blood:
28	chr1:46998640..46999596-chr1:47011107..47011755,3	K562	blood:
29	chr1:46912178..46913125-chr1:47013305..47014328,4	K562	blood:
30	chr1:46942850..46943359-chr1:47013489..47014125,2	MCF-7	breast:
31	chr1:47062611..47065175-chr1:47080228..47083086,2	MCF-7	breast:
32	chr1:47066512..47069474-chr1:47070954..47073416,4	K562	blood:
33	chr1:47065384..47067002-chr1:47081738..47084196,2	MCF-7	breast:
34	chr1:46912648..46913211-chr1:47041639..47042336,2	K562	blood:
35	chr1:47046909..47051901-chr1:47054352..47058078,4	K562	blood:
36	chr1:47054104..47055847-chr1:47061988..47063605,2	K562	blood:
37	chr1:47015863..47022104-chr1:47022936..47029939,8	K562	blood:
38	chr1:47036966..47039803-chr1:47043494..47046451,2	K562	blood:
39	chr1:47053775..47056193-chr1:47067460..47069823,2	MCF-7	breast:
40	chr1:47058514..47060124-chr1:47061743..47063610,2	MCF-7	breast:
41	chr1:47052682..47056987-chr1:47061043..47065460,4	K562	blood:
42	chr1:47012476..47015757-chr1:47016043..47020828,4	K562	blood:
43	chr1:47041717..47044206-chr1:47067000..47069818,2	K562	blood:
44	chr1:47020490..47024344-chr1:47028257..47029934,3	K562	blood:
45	chr1:47040255..47042564-chr1:47053834..47056327,2	K562	blood:
46	chr1:47053959..47056132-chr1:47066697..47069062,3	K562	blood:
47	chr1:47054632..47056967-chr1:47067428..47069828,2	K562	blood:
48	chr1:47033343..47035201-chr1:47067108..47069992,2	K562	blood:
49	chr1:47060289..47062565-chr1:47063314..47065574,2	MCF-7	breast:
50	chr1:47064340..47067047-chr1:47069594..47072155,2	MCF-7	breast:

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

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
ENSG00000142961	chromatin interactions
ENSG00000117480	chromatin interactions
ENSG00000079277	chromatin interactions
ENSG00000269956	chromatin interactions
ENSG00000162456	chromatin interactions
ENSG00000159658	chromatin interactions
PANK3	miRNA target sites
CDKN1B	miRNA target sites
CREBZF	miRNA target sites

Extended variants
information (count: 2240 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2240 , 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	rs149485736	chr1:47010528-47010529	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs548279719	chr1:47010554-47010555	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs369679586	chr1:47010563-47010564	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs144026169	chr1:47010565-47010566	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs552203190	chr1:47010598-47010599	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs570472747	chr1:47010608-47010609	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs563799574	chr1:47010630-47010631	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs537738552	chr1:47010652-47010653	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs191767039	chr1:47010660-47010661	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs574526920	chr1:47010723-47010724	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs535291229	chr1:47010733-47010734	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs375235513	chr1:47010758-47010759	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs34518513	chr1:47010824-47010825	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs553818528	chr1:47010852-47010853	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs572218138	chr1:47010921-47010922	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs184885092	chr1:47010928-47010929	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs564321017	chr1:47010940-47010941	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs190177915	chr1:47010957-47010958	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs12216998	chr1:47010958-47010959	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs543736010	chr1:47010959-47010960	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs377285947	chr1:47010972-47010973	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs562426051	chr1:47011024-47011025	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs529431873	chr1:47011025-47011026	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs548016493	chr1:47011031-47011032	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs373577430	chr1:47011041-47011042	Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs560240153	chr1:47011227-47011228	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs61783094	chr1:47011238-47011239	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs181879059	chr1:47011276-47011277	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs373261699	chr1:47011295-47011296	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs148676244	chr1:47011297-47011298	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs570338849	chr1:47011309-47011310	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs537876752	chr1:47011332-47011333	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs549782591	chr1:47011368-47011369	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs568361923	chr1:47011370-47011371	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs752704	chr1:47011372-47011373	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142208297	chr1:47011382-47011383	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs549439403	chr1:47011405-47011406	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs185663072	chr1:47011413-47011414	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs571957649	chr1:47011417-47011418	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs539537478	chr1:47011433-47011434	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs147859190	chr1:47011436-47011437	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs528568982	chr1:47011438-47011439	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs576329528	chr1:47011439-47011440	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs139783516	chr1:47011464-47011465	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555743508	chr1:47011494-47011495	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs574386071	chr1:47011525-47011526	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs144590297	chr1:47011534-47011535	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs147879164	chr1:47011587-47011588	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs141637893	chr1:47011595-47011596	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs1258036	chr1:47011687-47011688	Bivalent Enhancer Weak transcription Enhancers	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:1874 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:47009400-47010600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr1:47010000-47010800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:47010000-47010800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:47010200-47010600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:47010200-47010800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:47010200-47010800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
8	chr1:47010200-47011200	Flanking Active TSS	K562	blood
9	chr1:47010400-47010600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:47010400-47010600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr1:47010400-47010600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr1:47010400-47010800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr1:47010400-47011000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr1:47010400-47011200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr1:47010600-47010800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:47010600-47010800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr1:47011000-47011200	Bivalent Enhancer	Fetal Kidney	kidney
18	chr1:47011200-47013000	Enhancers	K562	blood
19	chr1:47011400-47012200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr1:47011600-47011800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:47011600-47011800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:47011600-47011800	Bivalent Enhancer	Placenta	Placenta
23	chr1:47011600-47012000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:47012200-47012400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:47012200-47012400	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr1:47012200-47012400	Bivalent Enhancer	HepG2	liver
27	chr1:47012400-47015200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:47013000-47013400	Weak transcription	K562	blood
29	chr1:47013200-47013800	Bivalent/Poised TSS	HepG2	liver
30	chr1:47013400-47013800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:47013400-47013800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr1:47013400-47014000	Enhancers	K562	blood
33	chr1:47013400-47014200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:47013400-47014200	Active TSS	Hela-S3	cervix
35	chr1:47013600-47013800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:47013600-47013800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:47013600-47013800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:47013600-47013800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr1:47013600-47013800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr1:47013600-47013800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:47013600-47013800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:47013600-47013800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
43	chr1:47013600-47013800	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr1:47013600-47013800	Enhancers	Esophagus	oesophagus
45	chr1:47013600-47013800	Enhancers	Dnd41	blood
46	chr1:47013600-47013800	Flanking Active TSS	HMEC	breast
47	chr1:47013600-47013800	Enhancers	HSMM	muscle
48	chr1:47013600-47013800	Bivalent Enhancer	Osteobl	bone
49	chr1:47013600-47014000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:47013600-47014000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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