Variant report

Variant	nsv1011722
Chromosome Location	chr4:56261349-56325600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1942)
CpG islands
(count:794)
Chromatin interactive
region (count:101)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

(count:1942 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:56261773-56261945	K562	blood:	n/a	n/a
2	ARID3A	chr4:56303671-56304015	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:56261793-56262090	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:56264297-56265424	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:56264307-56265111	K562	blood:	n/a	n/a
6	ARID3A	chr4:56304554-56305554	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:56303494-56303929	K562	blood:	n/a	n/a
8	ATF1	chr4:56261657-56262173	K562	blood:	n/a	n/a
9	ATF2	chr4:56261711-56262273	GM12878	blood:	n/a	n/a
10	BACH1	chr4:56261513-56261799	K562	blood:	n/a	n/a
11	BACH1	chr4:56261550-56261838	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr4:56301269-56301651	GM12878	blood:	n/a	n/a
13	BCL3	chr4:56273254-56273537	GM12878	blood:	n/a	n/a
14	BCL3	chr4:56301375-56301658	GM12878	blood:	n/a	n/a
15	BCLAF1	chr4:56261531-56263204	GM12878	blood:	n/a	chr4:56262243-56262252 chr4:56262272-56262281 chr4:56262246-56262255 chr4:56262343-56262356 chr4:56262244-56262257 chr4:56262098-56262111
16	BCLAF1	chr4:56301367-56301884	GM12878	blood:	n/a	n/a
17	BHLHE40	chr4:56262918-56263208	K562	blood:	n/a	n/a
18	BHLHE40	chr4:56303720-56303970	HepG2	liver:	n/a	n/a
19	BHLHE40	chr4:56264584-56264914	K562	blood:	n/a	n/a
20	BHLHE40	chr4:56301531-56301645	K562	blood:	n/a	n/a
21	BHLHE40	chr4:56303496-56304039	K562	blood:	n/a	n/a
22	BHLHE40	chr4:56261422-56262419	K562	blood:	n/a	n/a
23	BHLHE40	chr4:56261575-56262492	GM12878	blood:	n/a	n/a
24	BHLHE40	chr4:56264739-56264818	HepG2	liver:	n/a	n/a
25	BHLHE40	chr4:56301350-56301707	GM12878	blood:	n/a	n/a
26	BHLHE40	chr4:56261891-56262345	HepG2	liver:	n/a	n/a
27	BHLHE40	chr4:56262639-56262663	K562	blood:	n/a	n/a
28	BRCA1	chr4:56261512-56262276	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr4:56298438-56298444	GM12878	blood:	n/a	n/a
30	BRCA1	chr4:56261940-56262233	HepG2	liver:	n/a	n/a
31	CBX3	chr4:56261511-56262261	K562	blood:	n/a	n/a
32	CCNT2	chr4:56265302-56265538	K562	blood:	n/a	n/a
33	CCNT2	chr4:56303452-56303842	K562	blood:	n/a	n/a
34	CCNT2	chr4:56301641-56301845	K562	blood:	n/a	n/a
35	CCNT2	chr4:56261532-56263349	K562	blood:	n/a	chr4:56262663-56262672
36	CEBPB	chr4:56276557-56276747	K562	blood:	n/a	n/a
37	CEBPB	chr4:56264115-56264473	A549	lung:	n/a	chr4:56264368-56264379
38	CEBPB	chr4:56313371-56313591	IMR90	lung:	n/a	n/a
39	CEBPB	chr4:56309306-56309418	A549	lung:	n/a	n/a
40	CEBPB	chr4:56276523-56276788	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr4:56311003-56311166	A549	lung:	n/a	chr4:56311010-56311019 chr4:56311010-56311021
42	CEBPB	chr4:56269267-56269519	K562	blood:	n/a	n/a
43	CEBPB	chr4:56264184-56264551	HepG2	liver:	n/a	chr4:56264368-56264379
44	CEBPB	chr4:56261542-56262211	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr4:56292762-56293035	IMR90	lung:	n/a	chr4:56292899-56292910
46	CEBPB	chr4:56310859-56311114	HepG2	liver:	n/a	chr4:56311010-56311019 chr4:56311010-56311021
47	CEBPB	chr4:56264226-56264485	K562	blood:	n/a	chr4:56264368-56264379
48	CEBPB	chr4:56293490-56293719	K562	blood:	n/a	n/a
49	CEBPB	chr4:56264165-56265001	IMR90	lung:	n/a	chr4:56264368-56264379
50	CEBPB	chr4:56276539-56276798	IMR90	lung:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:56262702-56262752	MCF-7	breast:	n/a
2	chr4:56262702-56262752	MCF-7	breast:	n/a
3	chr4:56261753-56261803	HNPCEpiC	eye:	n/a
4	chr4:56262702-56262752	CMK	blood:	n/a
5	chr4:56301576-56301626	ovcar-3	ovarian:	n/a
6	chr4:56274131-56274181	HMEC	breast:	n/a
7	chr4:56301631-56301681	HepG2	liver:	n/a
8	chr4:56268848-56268898	T-47D	breast:	n/a
9	chr4:56261527-56261577	BJ	skin:	n/a
10	chr4:56298893-56298943	HCPEpiC	choroid plexus:	n/a
11	chr4:56301576-56301626	HEK293	kidney:	embryo
12	chr4:56268848-56268898	ECC-1	luminal epithelium:	n/a
13	chr4:56262702-56262752	GM12892	blood:	n/a
14	chr4:56262105-56262155	AoSMC	blood vessel:	n/a
15	chr4:56261527-56261577	AG10803	skin:	n/a
16	chr4:56298893-56298943	ovcar-3	ovarian:	n/a
17	chr4:56301576-56301626	NT2-D1	testis:	n/a
18	chr4:56274131-56274181	NHDF-neo	bronchial:	n/a
19	chr4:56261527-56261577	Hepatocyte	liver:	n/a
20	chr4:56262702-56262752	HRE	kidney:	n/a
21	chr4:56261753-56261803	SKMC	muscle:	n/a
22	chr4:56262445-56262495	NH-A	brain:	n/a
23	chr4:56268848-56268898	HCF	heart:	n/a
24	chr4:56262702-56262752	PrEC	prostate:	n/a
25	chr4:56261765-56261815	RPTEC	kidney:	n/a
26	chr4:56262833-56262883	AoSMC	blood vessel:	n/a
27	chr4:56261753-56261803	Caco-2	colon:	n/a
28	chr4:56261753-56261803	LNCaP	prostate:	n/a
29	chr4:56262445-56262495	H1-hESC	embryonic stem cell:	embryo
30	chr4:56301631-56301681	HCM	heart:	n/a
31	chr4:56262702-56262752	HMEC	breast:	n/a
32	chr4:56262833-56262883	MCF10A-Er-Src	breast:	n/a
33	chr4:56261753-56261803	Jurkat	blood:	n/a
34	chr4:56261527-56261577	CMK	blood:	n/a
35	chr4:56262833-56262883	GM12892	blood:	n/a
36	chr4:56261765-56261815	Caco-2	colon:	n/a
37	chr4:56268848-56268898	PFSK-1	brain:	n/a
38	chr4:56262833-56262883	SK-N-SH_RA	brain:	n/a
39	chr4:56262105-56262155	Caco-2	colon:	n/a
40	chr4:56262445-56262495	HUVEC	blood vessel:	n/a
41	chr4:56262702-56262752	HCPEpiC	choroid plexus:	n/a
42	chr4:56274131-56274181	K562	blood:	n/a
43	chr4:56261753-56261803	HAEpiC	amniotic membrane:	n/a
44	chr4:56301631-56301681	Jurkat	blood:	n/a
45	chr4:56301576-56301626	SKMC	muscle:	n/a
46	chr4:56262833-56262883	HAEpiC	amniotic membrane:	n/a
47	chr4:56274131-56274181	MCF-7	breast:	n/a
48	chr4:56261765-56261815	HRCEpiC	kidney:	n/a
49	chr4:56262702-56262752	MCF10A-Er-Src	breast:	n/a
50	chr4:56261527-56261577	HEEpiC	esophagus:	n/a

(count:101 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:56312880..56314520-chr4:56319632..56321569,2	K562	blood:
2	chr4:56290594..56293153-chr4:56313887..56316128,2	K562	blood:
3	chr4:56262170..56264152-chr4:56264363..56265916,3	K562	blood:
4	chr4:56300038..56301691-chr4:56304307..56306421,3	K562	blood:
5	chr4:56222050..56228109-chr4:56258616..56264786,10	MCF-7	breast:
6	chr4:56274229..56276308-chr4:56282213..56284888,2	MCF-7	breast:
7	chr4:56266067..56267699-chr4:56271922..56273908,2	MCF-7	breast:
8	chr4:56223292..56225715-chr4:56279967..56281699,2	MCF-7	breast:
9	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
10	chr4:56311038..56311651-chr6:44419905..44420425,3	MCF-7	breast:
11	chr4:56293088..56294716-chr4:56298284..56300169,2	MCF-7	breast:
12	chr4:56293289..56296469-chr4:56304349..56307875,3	K562	blood:
13	chr4:56211622..56213741-chr4:56288738..56291622,2	MCF-7	breast:
14	chr4:56318586..56320873-chr4:56325106..56327735,2	K562	blood:
15	chr16:67313002..67313543-chr4:56261724..56262428,2	NB4	blood:
16	chr3:150125609..150126516-chr4:56261520..56262416,2	HCT-116	colon:
17	chr18:56338349..56338859-chr4:56262021..56262530,2	HCT-116	colon:
18	chr4:56273385..56275386-chr4:56294557..56296512,2	K562	blood:
19	chr4:56245158..56247160-chr4:56262133..56263862,2	K562	blood:
20	chr4:56295205..56296902-chr4:56297948..56299927,2	MCF-7	breast:
21	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:
22	chr4:56311115..56311721-chr4:56412948..56413742,2	MCF-7	breast:
23	chr4:56211324..56213872-chr4:56274081..56277036,2	K562	blood:
24	chr4:56247536..56249762-chr4:56263632..56266279,3	K562	blood:
25	chr4:56290006..56292767-chr4:56303276..56306069,2	K562	blood:
26	chr4:56240281..56248484-chr4:56258541..56264383,10	MCF-7	breast:
27	chr4:56302150..56304103-chr4:56306909..56309634,2	K562	blood:
28	chr4:56312880..56314520-chr4:56319632..56321569,2	K562	blood:
29	chr4:56211315..56214213-chr4:56299558..56303630,3	MCF-7	breast:
30	chr4:56212034..56214727-chr4:56273890..56277792,4	MCF-7	breast:
31	chr4:56275809..56278262-chr4:56283958..56286779,2	K562	blood:
32	chr4:56280205..56282229-chr4:56283949..56285527,2	K562	blood:
33	chr4:56269741..56272367-chr4:56273938..56276057,3	MCF-7	breast:
34	chr4:56302150..56304103-chr4:56306909..56309634,2	K562	blood:
35	chr4:56286595..56290144-chr4:56294391..56296854,4	K562	blood:
36	chr4:56309987..56312642-chr4:56314579..56316616,2	MCF-7	breast:
37	chr17:46126036..46126788-chr4:56264311..56264974,2	Hela-S3	cervix:
38	chr4:56295205..56296902-chr4:56297948..56299927,2	MCF-7	breast:
39	chr4:56280205..56283146-chr4:56283949..56286738,4	K562	blood:
40	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:
41	chr4:56292224..56294468-chr4:56294725..56296389,2	K562	blood:
42	chr4:56309719..56312179-chr4:56315380..56317885,2	K562	blood:
43	chr4:56275450..56278290-chr4:56412391..56414503,2	K562	blood:
44	chr4:56272499..56275145-chr4:56296679..56299422,2	K562	blood:
45	chr4:56269741..56272367-chr4:56273938..56276057,3	MCF-7	breast:
46	chr4:56211424..56214450-chr4:56271067..56273644,4	MCF-7	breast:
47	chr4:56261217..56263329-chr4:56294941..56296615,2	K562	blood:
48	chr4:56293088..56294716-chr4:56298284..56300169,2	MCF-7	breast:
49	chr4:56292224..56294468-chr4:56294725..56296389,2	K562	blood:
50	chr4:56303798..56306133-chr4:56600360..56603061,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLOCK-1	chr4:56261962-56261997	ENSG00000249700.4
2	lnc-CLOCK-1	chr4:56261962-56262004	ENSG00000249700.4
3	lnc-PDCL2-4	chr4:56294074-56297591	NONHSAT096464
4	lnc-CLOCK-1	chr4:56261962-56262009	ENSG00000249700.4
5	lnc-SRD5A3-4	chr4:56264559-56265055	NONHSAT096458
6	lnc-CLOCK-1	chr4:56261962-56262009	ENSG00000249700.4
7	lnc-CLOCK-1	chr4:56261962-56262014	ENSG00000249700.4

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	CLOCK	hsa-miR-141-3p	chr4:56301349-56301370
2	CLOCK	hsa-miR-182-5p	chr4:56301304-56301326
3	CLOCK	hsa-miR-141-3p	chr4:56301211-56301205
4	CLOCK	hsa-miR-141-3p	chr4:56301355-56301349
5	CLOCK	hsa-miR-182-5p	chr4:56301310-56301303
6	CLOCK	hsa-miR-26b-5p	chr4:56299552-56299573
7	CLOCK	hsa-miR-106b-5p	chr4:56300512-56300506
8	CLOCK	hsa-miR-106b-5p	chr4:56300506-56300526

Variant related genes	Relation type
SRD5A3-AS1	TF binding region
ENSG00000239040	TF binding region
ENSG00000203615	TF binding region
TMEM165	TF binding region
CLOCK	TF binding region
SRD5A3-AS1	CpG island
ENSG00000239040	CpG island
ENSG00000203615	CpG island
TMEM165	CpG island
CLOCK	CpG island
ENSG00000109255	chromatin interactions
ENSG00000272969	chromatin interactions
ENSG00000203615	chromatin interactions
ENSG00000134851	chromatin interactions
ENSG00000167658	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000172175	chromatin interactions
ENSG00000134852	chromatin interactions
ENSG00000251111	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000196155	chromatin interactions
ENSG00000239040	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000273257	chromatin interactions
ENSG00000128039	chromatin interactions
ENSG00000249700	chromatin interactions

Extended variants
information (count: 2569 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2569 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559977776	chr4:56261367-56261368	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs572901478	chr4:56261603-56261604	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs34887847	chr4:56261622-56261623	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs545015270	chr4:56261635-56261636	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs182512000	chr4:56261637-56261638	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs376002890	chr4:56261668-56261669	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs369344214	chr4:56261689-56261690	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs371303900	chr4:56261708-56261709	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs530578887	chr4:56261714-56261715	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs550753838	chr4:56261754-56261755	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs560891120	chr4:56261763-56261764	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs372448770	chr4:56261784-56261785	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs375641461	chr4:56261806-56261807	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs117671958	chr4:56261826-56261827	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs189258177	chr4:56261860-56261861	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs181954774	chr4:56261867-56261868	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs185688196	chr4:56261883-56261884	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs551354533	chr4:56261891-56261892	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs529292805	chr4:56261907-56261908	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs571418793	chr4:56261920-56261921	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs370247191	chr4:56261923-56261924	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs116554825	chr4:56261930-56261931	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs117926813	chr4:56261939-56261940	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs567794230	chr4:56261949-56261950	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs566073432	chr4:56261953-56261954	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs536830935	chr4:56261966-56261967	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
27	rs553748078	chr4:56261969-56261970	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
28	rs190539209	chr4:56261972-56261973	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
29	rs372082472	chr4:56261974-56261975	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
30	rs558540025	chr4:56261980-56261981	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
31	rs374094979	chr4:56261982-56261983	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
32	rs575431592	chr4:56261995-56261996	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
33	rs1962453	chr4:56261999-56262000	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561022787	chr4:56262010-56262011	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
35	rs115066689	chr4:56262022-56262023	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs540420392	chr4:56262045-56262046	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs560058387	chr4:56262142-56262143	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs532235169	chr4:56262160-56262161	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs551366873	chr4:56262169-56262170	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs367643890	chr4:56262188-56262189	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs370944338	chr4:56262199-56262200	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs116687212	chr4:56262210-56262211	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs551050842	chr4:56262242-56262243	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs550821940	chr4:56262255-56262256	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs567743839	chr4:56262260-56262261	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs536484885	chr4:56262284-56262285	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs553562943	chr4:56262327-56262328	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs1128141	chr4:56262374-56262375	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376472202	chr4:56262410-56262411	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs569903895	chr4:56262499-56262500	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	20952505	CNVD

Chromatin state (count:2904 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56248200-56261400	Weak transcription	Aorta	Aorta
3	chr4:56252400-56261600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:56254000-56261400	Weak transcription	Fetal Thymus	thymus
5	chr4:56256400-56261400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:56257600-56261400	Weak transcription	Pancreas	Pancrea
7	chr4:56259400-56261400	Enhancers	Brain Cingulate Gyrus	brain
8	chr4:56259400-56261600	Enhancers	Stomach Mucosa	stomach
9	chr4:56259600-56261400	Enhancers	A549	lung
10	chr4:56259800-56261400	Weak transcription	Lung	lung
11	chr4:56260000-56261400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:56260000-56261400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:56260000-56261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:56260200-56261400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:56260200-56261400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:56260400-56261400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:56260800-56261400	Weak transcription	Brain Substantia Nigra	brain
18	chr4:56261000-56261400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr4:56261000-56261400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr4:56261000-56261400	Enhancers	Dnd41	blood
21	chr4:56261000-56261400	Enhancers	HMEC	breast
22	chr4:56261000-56261600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:56261000-56261600	Flanking Active TSS	K562	blood
24	chr4:56261200-56261400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:56261200-56261400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:56261200-56261400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:56261200-56261400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:56261200-56261400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:56261200-56261400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:56261200-56261400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:56261200-56261400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:56261200-56261400	Enhancers	Primary B cells from peripheral blood	blood
33	chr4:56261200-56261400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr4:56261200-56261400	Enhancers	Primary hematopoietic stem cells	blood
35	chr4:56261200-56261400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr4:56261200-56261400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:56261200-56261400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr4:56261200-56261400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:56261200-56261400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:56261200-56261400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:56261200-56261400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:56261200-56261400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:56261200-56261400	Enhancers	Adipose Nuclei	Adipose
44	chr4:56261200-56261400	Enhancers	Liver	Liver
45	chr4:56261200-56261400	Enhancers	Brain Angular Gyrus	brain
46	chr4:56261200-56261400	Enhancers	Colon Smooth Muscle	Colon
47	chr4:56261200-56261400	Enhancers	Duodenum Mucosa	Duodenum
48	chr4:56261200-56261400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:56261200-56261400	Enhancers	Fetal Intestine Large	intestine
50	chr4:56261200-56261400	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links