Variant report

Variant	esv3449153
Chromosome Location	chr3:23984948-23988646
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	chr3:23987369-23988381	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:23986470-23986650	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:23987276-23988050	K562	blood:	n/a	n/a
4	ARID3A	chr3:23986170-23986177	K562	blood:	n/a	n/a
5	ARID3A	chr3:23988644-23989296	K562	blood:	n/a	n/a
6	ATF1	chr3:23987222-23988143	K562	blood:	n/a	n/a
7	ATF2	chr3:23987156-23988136	GM12878	blood:	n/a	chr3:23987594-23987605
8	ATF2	chr3:23987279-23988066	H1-hESC	embryonic stem cell:	n/a	chr3:23987594-23987605
9	ATF2	chr3:23987255-23988302	GM12878	blood:	n/a	chr3:23987594-23987605
10	ATF2	chr3:23987160-23988311	H1-hESC	embryonic stem cell:	n/a	chr3:23987594-23987605
11	ATF3	chr3:23987204-23987798	A549	lung:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
12	ATF3	chr3:23987346-23987591	GM12878	blood:	n/a	chr3:23987374-23987383
13	ATF3	chr3:23987244-23987726	K562	blood:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
14	ATF3	chr3:23987156-23987703	GM12878	blood:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
15	ATF3	chr3:23986487-23986901	K562	blood:	n/a	chr3:23986819-23986828
16	ATF3	chr3:23987159-23987810	K562	blood:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
17	ATF3	chr3:23987225-23987801	HepG2	liver:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
18	ATF3	chr3:23987281-23987629	H1-hESC	embryonic stem cell:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
19	ATF3	chr3:23987227-23987745	K562	blood:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
20	BACH1	chr3:23986383-23986597	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr3:23985170-23985345	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr3:23987668-23988221	K562	blood:	n/a	chr3:23988132-23988146
23	BACH1	chr3:23986459-23986612	K562	blood:	n/a	n/a
24	BACH1	chr3:23987350-23988272	H1-hESC	embryonic stem cell:	n/a	chr3:23988132-23988146
25	BCL11A	chr3:23987441-23987772	GM12878	blood:	n/a	chr3:23987548-23987561 chr3:23987442-23987455 chr3:23987567-23987576
26	BCL3	chr3:23987177-23988255	A549	lung:	n/a	chr3:23987548-23987561 chr3:23987438-23987451 chr3:23987888-23987897 chr3:23987436-23987449 chr3:23987440-23987449 chr3:23987439-23987452 chr3:23987442-23987455 chr3:23987567-23987576 chr3:23987437-23987446
27	BCL3	chr3:23987602-23987957	GM12878	blood:	n/a	chr3:23987888-23987897
28	BCL3	chr3:23987107-23988057	GM12878	blood:	n/a	chr3:23987548-23987561 chr3:23987438-23987451 chr3:23987888-23987897 chr3:23987156-23987169 chr3:23987436-23987449 chr3:23987440-23987449 chr3:23987439-23987452 chr3:23987442-23987455 chr3:23987567-23987576 chr3:23987154-23987163 chr3:23987437-23987446
29	BCL3	chr3:23987317-23988431	A549	lung:	n/a	chr3:23987548-23987561 chr3:23987438-23987451 chr3:23987888-23987897 chr3:23987436-23987449 chr3:23987440-23987449 chr3:23987439-23987452 chr3:23987442-23987455 chr3:23987567-23987576 chr3:23987437-23987446
30	BCLAF1	chr3:23987185-23987900	K562	blood:	n/a	chr3:23987548-23987561 chr3:23987438-23987451 chr3:23987888-23987897 chr3:23987436-23987449 chr3:23987440-23987449 chr3:23987439-23987452 chr3:23987442-23987455 chr3:23987567-23987576 chr3:23987437-23987446
31	BCLAF1	chr3:23987220-23987952	GM12878	blood:	n/a	chr3:23987548-23987561 chr3:23987438-23987451 chr3:23987888-23987897 chr3:23987436-23987449 chr3:23987440-23987449 chr3:23987439-23987452 chr3:23987442-23987455 chr3:23987567-23987576 chr3:23987437-23987446
32	BHLHE40	chr3:23987166-23987754	HepG2	liver:	n/a	chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457 chr3:23987189-23987205
33	BHLHE40	chr3:23986610-23986929	HepG2	liver:	n/a	chr3:23986706-23986722 chr3:23986783-23986799
34	BHLHE40	chr3:23985728-23988393	K562	blood:	n/a	chr3:23986706-23986722 chr3:23986783-23986799 chr3:23987153-23987169 chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457 chr3:23987189-23987205
35	BHLHE40	chr3:23986523-23988282	GM12878	blood:	n/a	chr3:23986706-23986722 chr3:23986783-23986799 chr3:23987153-23987169 chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457 chr3:23987189-23987205
36	BHLHE40	chr3:23987218-23988283	A549	lung:	n/a	chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457
37	BHLHE40	chr3:23987235-23987558	HepG2	liver:	n/a	chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457
38	BHLHE40	chr3:23987153-23988334	HepG2	liver:	n/a	chr3:23987153-23987169 chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457 chr3:23987189-23987205
39	BRCA1	chr3:23987315-23987928	HepG2	liver:	n/a	n/a
40	BRCA1	chr3:23985658-23985812	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr3:23987608-23987698	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr3:23987344-23988214	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr3:23986352-23986943	K562	blood:	n/a	n/a
44	CBX3	chr3:23987208-23988333	K562	blood:	n/a	n/a
45	CCNT2	chr3:23986589-23988131	K562	blood:	n/a	n/a
46	CEBPB	chr3:23985542-23985860	K562	blood:	n/a	n/a
47	CEBPB	chr3:23987258-23988137	A549	lung:	n/a	n/a
48	CEBPB	chr3:23987205-23987796	MCF-7	breast:	n/a	n/a
49	CEBPB	chr3:23985626-23985735	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr3:23987275-23987788	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:23986474-23986524	T-47D	breast:	n/a
2	chr3:23987787-23987837	NH-A	brain:	n/a
3	chr3:23987438-23987488	HCM	heart:	n/a
4	chr3:23986474-23986524	NHBE	bronchial:	n/a
5	chr3:23987730-23987780	GM06990	blood:	n/a
6	chr3:23987206-23987256	A549	lung:	n/a
7	chr3:23986090-23986140	HPAEpiC	pulmonary alveolar:	n/a
8	chr3:23987459-23987509	U87	brain:	n/a
9	chr3:23987206-23987256	HNPCEpiC	eye:	n/a
10	chr3:23987467-23987517	PANC-1	pancreas:	n/a
11	chr3:23987438-23987488	GM06990	blood:	n/a
12	chr3:23987459-23987509	HEEpiC	esophagus:	n/a
13	chr3:23986459-23986509	A549	lung:	n/a
14	chr3:23987730-23987780	BJ	skin:	n/a
15	chr3:23987430-23987480	NH-A	brain:	n/a
16	chr3:23987430-23987480	Caco-2	colon:	n/a
17	chr3:23987467-23987517	AoSMC	blood vessel:	n/a
18	chr3:23987430-23987480	HRCEpiC	kidney:	n/a
19	chr3:23987430-23987480	AG09319	gingival:	n/a
20	chr3:23986459-23986509	AG10803	skin:	n/a
21	chr3:23987467-23987517	GM12878	blood:	n/a
22	chr3:23987459-23987509	AG04449	skin:	fetal
23	chr3:23987787-23987837	HRCEpiC	kidney:	n/a
24	chr3:23987430-23987480	HMEC	breast:	n/a
25	chr3:23986090-23986140	NB4	blood:	n/a
26	chr3:23987730-23987780	PFSK-1	brain:	n/a
27	chr3:23986090-23986140	SAEC	small airway:	n/a
28	chr3:23987101-23987151	IMR90	lung:	fetal
29	chr3:23987787-23987837	GM06990	blood:	n/a
30	chr3:23987730-23987780	NB4	blood:	n/a
31	chr3:23987730-23987780	BE2_C	brain:	n/a
32	chr3:23987467-23987517	RPTEC	kidney:	n/a
33	chr3:23987730-23987780	PrEC	prostate:	n/a
34	chr3:23987206-23987256	SK-N-MC	brain:	n/a
35	chr3:23987730-23987780	AG04450	lung:	fetal
36	chr3:23987787-23987837	PANC-1	pancreas:	n/a
37	chr3:23987101-23987151	AG04449	skin:	fetal
38	chr3:23986935-23986985	PrEC	prostate:	n/a
39	chr3:23986935-23986985	AG04449	skin:	fetal
40	chr3:23987787-23987837	AoSMC	blood vessel:	n/a
41	chr3:23987787-23987837	AG04449	skin:	fetal
42	chr3:23986935-23986985	RPTEC	kidney:	n/a
43	chr3:23986474-23986524	GM12891	blood:	n/a
44	chr3:23987430-23987480	HUVEC	blood vessel:	n/a
45	chr3:23986474-23986524	HAEpiC	amniotic membrane:	n/a
46	chr3:23986935-23986985	SAEC	small airway:	n/a
47	chr3:23986459-23986509	NB4	blood:	n/a
48	chr3:23987430-23987480	ProgFib	skin:	n/a
49	chr3:23987206-23987256	Jurkat	blood:	n/a
50	chr3:23986459-23986509	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:23985538..23993367-chr3:23993730..24003801,19	MCF-7	breast:
2	chr3:23986158..23988420-chr3:24004373..24006448,3	MCF-7	breast:
3	chr11:9481705..9482469-chr3:23987267..23987797,2	Hela-S3	cervix:
4	chr3:23846531..23848270-chr3:23987055..23988984,2	MCF-7	breast:
5	chr3:23930082..23933040-chr3:23982116..23985334,3	K562	blood:
6	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
7	chr3:23988335..23991846-chr3:24002543..24006084,3	K562	blood:
8	chr3:23987103..23988093-chr6:56911476..56911991,2	Hela-S3	cervix:
9	chr15:66083954..66084520-chr3:23986359..23987197,2	Hela-S3	cervix:
10	chr3:23986774..23987327-chr5:1523908..1524413,2	Hela-S3	cervix:
11	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
12	chr15:78422464..78425441-chr3:23985742..23987944,2	MCF-7	breast:
13	chr3:23985869..23987641-chr3:24536460..24539004,2	MCF-7	breast:
14	chr3:23988541..23991177-chr3:24537846..24539360,2	K562	blood:
15	chr3:23849969..23852479-chr3:23986397..23988332,3	K562	blood:
16	chr3:23988282..23990131-chr3:24033697..24035885,2	MCF-7	breast:

Variant related genes	Relation type
NR1D2	TF binding region
NKIRAS1	TF binding region
NR1D2	CpG island
NKIRAS1	CpG island
ENSG00000153395	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000166411	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000174738	chromatin interactions
ENSG00000168116	chromatin interactions
ENSG00000228791	chromatin interactions
ENSG00000151090	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000136425	chromatin interactions
ENSG00000174485	chromatin interactions
ENSG00000174748	chromatin interactions
ENSG00000268403	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138016877	chr3:23984950-23984951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113609037	chr3:23984958-23984959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545561364	chr3:23985005-23985006	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565512697	chr3:23985039-23985040	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs532589340	chr3:23985046-23985047	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548157555	chr3:23985054-23985055	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566334127	chr3:23985114-23985115	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs77908115	chr3:23985166-23985167	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs74713837	chr3:23985171-23985172	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs535415554	chr3:23985228-23985229	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs116102834	chr3:23985254-23985255	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs144138259	chr3:23985261-23985262	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs148309059	chr3:23985262-23985263	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs570671479	chr3:23985265-23985266	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs548978734	chr3:23985272-23985273	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs534463641	chr3:23985275-23985276	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs552859086	chr3:23985308-23985309	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs574357808	chr3:23985340-23985341	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs568903993	chr3:23985347-23985348	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs141404952	chr3:23985360-23985361	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs147490147	chr3:23985365-23985366	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs180990640	chr3:23985391-23985392	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112562288	chr3:23985411-23985412	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs143140331	chr3:23985426-23985427	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs190683102	chr3:23985429-23985430	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs113912221	chr3:23985431-23985432	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs185863419	chr3:23985520-23985521	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs112522158	chr3:23985527-23985528	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs558212076	chr3:23985554-23985555	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs386659370	chr3:23985564-23985565	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs536607913	chr3:23985565-23985566	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs530443441	chr3:23985568-23985569	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs548883060	chr3:23985571-23985572	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs572521701	chr3:23985573-23985574	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs563740883	chr3:23985576-23985577	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs182406469	chr3:23985585-23985586	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs578085959	chr3:23985602-23985603	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs552642542	chr3:23985608-23985609	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs115651038	chr3:23985655-23985656	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs570817140	chr3:23985743-23985744	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs534524006	chr3:23985785-23985786	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs558853440	chr3:23985786-23985787	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs4131864	chr3:23985809-23985810	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs567892842	chr3:23985815-23985816	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs13087250	chr3:23985838-23985839	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201390890	chr3:23985840-23985841	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs373178845	chr3:23985842-23985843	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs4858564	chr3:23985852-23985853	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376570093	chr3:23985880-23985881	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs140002208	chr3:23985889-23985890	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23962000-23985600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:23964200-23985000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:23976800-23985600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:23979000-23985200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:23979000-23985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:23979200-23985600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:23980400-23985200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:23980400-23985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:23980600-23985200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:23980600-23985200	Weak transcription	Fetal Lung	lung
11	chr3:23980800-23985200	Weak transcription	Fetal Heart	heart
12	chr3:23982200-23986000	Weak transcription	Right Atrium	heart
13	chr3:23983200-23985200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:23983400-23985200	Weak transcription	K562	blood
15	chr3:23985000-23985200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr3:23985000-23985200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr3:23985000-23985200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:23985000-23985200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:23985000-23985800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:23985200-23985400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:23985200-23985400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:23985200-23985400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr3:23985200-23985400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr3:23985200-23985600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:23985200-23985600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:23985200-23985600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:23985200-23985600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:23985200-23985600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:23985200-23985600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:23985200-23985600	Bivalent Enhancer	Fetal Thymus	thymus
31	chr3:23985200-23985600	Enhancers	K562	blood
32	chr3:23985200-23985800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr3:23985200-23985800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:23985200-23985800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:23985200-23985800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:23985200-23985800	Enhancers	Fetal Lung	lung
37	chr3:23985200-23985800	Bivalent Enhancer	HepG2	liver
38	chr3:23985200-23985800	Enhancers	NHLF	lung
39	chr3:23985200-23986000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr3:23985200-23986000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:23985200-23986000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr3:23985200-23986000	Enhancers	Hela-S3	cervix
43	chr3:23985200-23986200	Flanking Active TSS	Fetal Heart	heart
44	chr3:23985200-23986200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr3:23985400-23985600	Enhancers	Primary hematopoietic stem cells	blood
46	chr3:23985400-23985600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr3:23985400-23985600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr3:23985400-23985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:23985400-23985600	Enhancers	Brain Anterior Caudate	brain
50	chr3:23985400-23985600	Flanking Active TSS	Fetal Kidney	kidney

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