Variant report

Variant	esv3425301
Chromosome Location	chr3:23985548-23988496
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	chr3:23986170-23986177	K562	blood:	n/a	n/a
3	ARID3A	chr3:23987276-23988050	K562	blood:	n/a	n/a
4	ARID3A	chr3:23986470-23986650	HepG2	liver:	n/a	n/a
5	ATF1	chr3:23987222-23988143	K562	blood:	n/a	n/a
6	ATF2	chr3:23987255-23988302	GM12878	blood:	n/a	chr3:23987594-23987605
7	ATF2	chr3:23987160-23988311	H1-hESC	embryonic stem cell:	n/a	chr3:23987594-23987605
8	ATF2	chr3:23987279-23988066	H1-hESC	embryonic stem cell:	n/a	chr3:23987594-23987605
9	ATF2	chr3:23987156-23988136	GM12878	blood:	n/a	chr3:23987594-23987605
10	ATF3	chr3:23987204-23987798	A549	lung:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
11	ATF3	chr3:23987346-23987591	GM12878	blood:	n/a	chr3:23987374-23987383
12	ATF3	chr3:23987225-23987801	HepG2	liver:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
13	ATF3	chr3:23987156-23987703	GM12878	blood:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
14	ATF3	chr3:23987159-23987810	K562	blood:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
15	ATF3	chr3:23987244-23987726	K562	blood:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
16	ATF3	chr3:23987281-23987629	H1-hESC	embryonic stem cell:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
17	ATF3	chr3:23986487-23986901	K562	blood:	n/a	chr3:23986819-23986828
18	ATF3	chr3:23987227-23987745	K562	blood:	n/a	chr3:23987584-23987604 chr3:23987374-23987383
19	BACH1	chr3:23987668-23988221	K562	blood:	n/a	chr3:23988132-23988146
20	BACH1	chr3:23986459-23986612	K562	blood:	n/a	n/a
21	BACH1	chr3:23987350-23988272	H1-hESC	embryonic stem cell:	n/a	chr3:23988132-23988146
22	BACH1	chr3:23986383-23986597	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL11A	chr3:23987441-23987772	GM12878	blood:	n/a	chr3:23987548-23987561 chr3:23987442-23987455 chr3:23987567-23987576
24	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
25	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
26	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
27	BCL3	chr3:23987602-23987957	GM12878	blood:	n/a	chr3:23987888-23987897
28	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
29	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
30	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
31	BHLHE40	chr3:23986610-23986929	HepG2	liver:	n/a	chr3:23986706-23986722 chr3:23986783-23986799
32	BHLHE40	chr3:23987166-23987754	HepG2	liver:	n/a	chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457 chr3:23987189-23987205
33	BHLHE40	chr3:23987218-23988283	A549	lung:	n/a	chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457
34	BHLHE40	chr3:23987153-23988334	HepG2	liver:	n/a	chr3:23987153-23987169 chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457 chr3:23987189-23987205
35	BHLHE40	chr3:23987235-23987558	HepG2	liver:	n/a	chr3:23987430-23987446 chr3:23987438-23987454 chr3:23987441-23987457
36	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
37	BRCA1	chr3:23987344-23988214	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr3:23987608-23987698	H1-hESC	embryonic stem cell:	n/a	n/a
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	CBX3	chr3:23986352-23986943	K562	blood:	n/a	n/a
42	CBX3	chr3:23987208-23988333	K562	blood:	n/a	n/a
43	CCNT2	chr3:23986589-23988131	K562	blood:	n/a	n/a
44	CEBPB	chr3:23986382-23986523	K562	blood:	n/a	n/a
45	CEBPB	chr3:23987275-23987788	HepG2	liver:	n/a	n/a
46	CEBPB	chr3:23987231-23988142	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr3:23985542-23985860	K562	blood:	n/a	n/a
48	CEBPB	chr3:23985626-23985735	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr3:23987267-23987806	A549	lung:	n/a	n/a
50	CEBPB	chr3:23986377-23986479	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:23987459-23987509	GM06990	blood:	n/a
2	chr3:23987459-23987509	GM06990	blood:	n/a
3	chr3:23986474-23986524	RPTEC	kidney:	n/a
4	chr3:23987430-23987480	SK-N-MC	brain:	n/a
5	chr3:23987206-23987256	NT2-D1	testis:	n/a
6	chr3:23987206-23987256	SKMC	muscle:	n/a
7	chr3:23986935-23986985	HCPEpiC	choroid plexus:	n/a
8	chr3:23987467-23987517	ECC-1	luminal epithelium:	n/a
9	chr3:23987101-23987151	SK-N-SH	brain:	n/a
10	chr3:23987430-23987480	IMR90	lung:	fetal
11	chr3:23987467-23987517	MCF-7	breast:	n/a
12	chr3:23986459-23986509	BJ	skin:	n/a
13	chr3:23987101-23987151	NHBE	bronchial:	n/a
14	chr3:23987101-23987151	GM06990	blood:	n/a
15	chr3:23987459-23987509	SKMC	muscle:	n/a
16	chr3:23987787-23987837	GM12878	blood:	n/a
17	chr3:23987101-23987151	ProgFib	skin:	n/a
18	chr3:23986474-23986524	A549	lung:	n/a
19	chr3:23987787-23987837	HCF	heart:	n/a
20	chr3:23986090-23986140	LNCaP	prostate:	n/a
21	chr3:23987467-23987517	HCF	heart:	n/a
22	chr3:23987467-23987517	BE2_C	brain:	n/a
23	chr3:23986935-23986985	BE2_C	brain:	n/a
24	chr3:23986474-23986524	HEK293	kidney:	embryo
25	chr3:23986474-23986524	U87	brain:	n/a
26	chr3:23986459-23986509	SK-N-MC	brain:	n/a
27	chr3:23987206-23987256	HPAEpiC	pulmonary alveolar:	n/a
28	chr3:23987459-23987509	GM19239	blood:	n/a
29	chr3:23986459-23986509	GM12892	blood:	n/a
30	chr3:23987101-23987151	LNCaP	prostate:	n/a
31	chr3:23986474-23986524	ProgFib	skin:	n/a
32	chr3:23986459-23986509	U87	brain:	n/a
33	chr3:23987459-23987509	HepG2	liver:	n/a
34	chr3:23987730-23987780	HPAEpiC	pulmonary alveolar:	n/a
35	chr3:23986090-23986140	HUVEC	blood vessel:	n/a
36	chr3:23986935-23986985	SKMC	muscle:	n/a
37	chr3:23987787-23987837	GM12891	blood:	n/a
38	chr3:23987430-23987480	HL-60	blood:	n/a
39	chr3:23986935-23986985	HRE	kidney:	n/a
40	chr3:23987430-23987480	NT2-D1	testis:	n/a
41	chr3:23987467-23987517	IMR90	lung:	fetal
42	chr3:23987438-23987488	NT2-D1	testis:	n/a
43	chr3:23986459-23986509	NHDF-neo	bronchial:	n/a
44	chr3:23987206-23987256	HEEpiC	esophagus:	n/a
45	chr3:23986474-23986524	GM19239	blood:	n/a
46	chr3:23986090-23986140	HCPEpiC	choroid plexus:	n/a
47	chr3:23987438-23987488	ProgFib	skin:	n/a
48	chr3:23987101-23987151	BE2_C	brain:	n/a
49	chr3:23987467-23987517	GM12892	blood:	n/a
50	chr3:23986935-23986985	U87	brain:	n/a

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

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

Extended variants
information (count: 148 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	rs145412587	chr3:23985905-23985906	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
24	rs199756070	chr3:23985914-23985915	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
25	rs113828163	chr3:23985928-23985929	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
26	rs147301215	chr3:23985940-23985941	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
27	rs6771641	chr3:23985952-23985953	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)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182888067	chr3:23985954-23985955	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
29	rs575076576	chr3:23985976-23985977	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
30	rs542589962	chr3:23985996-23985997	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
31	rs563782215	chr3:23986021-23986022	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs530943318	chr3:23986032-23986033	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs73036769	chr3:23986057-23986058	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs564625969	chr3:23986103-23986104	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs528592757	chr3:23986132-23986133	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs56865260	chr3:23986178-23986179	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373162085	chr3:23986199-23986200	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs567956171	chr3:23986222-23986223	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs535269895	chr3:23986258-23986259	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs550858320	chr3:23986269-23986270	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs569019990	chr3:23986274-23986275	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs62253379	chr3:23986289-23986290	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371160816	chr3:23986293-23986294	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs373713127	chr3:23986331-23986332	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs187738518	chr3:23986332-23986333	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs566458595	chr3:23986345-23986346	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs28510558	chr3:23986466-23986467	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530804316	chr3:23986498-23986499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs555498136	chr3:23986527-23986528	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs575089183	chr3:23986559-23986560	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 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:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23962000-23985600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:23976800-23985600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:23979200-23985600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:23980400-23985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:23982200-23986000	Weak transcription	Right Atrium	heart
6	chr3:23985000-23985800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr3:23985200-23985600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:23985200-23985600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:23985200-23985600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr3:23985200-23985600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:23985200-23985600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:23985200-23985600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:23985200-23985600	Bivalent Enhancer	Fetal Thymus	thymus
14	chr3:23985200-23985600	Enhancers	K562	blood
15	chr3:23985200-23985800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:23985200-23985800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:23985200-23985800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:23985200-23985800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:23985200-23985800	Enhancers	Fetal Lung	lung
20	chr3:23985200-23985800	Bivalent Enhancer	HepG2	liver
21	chr3:23985200-23985800	Enhancers	NHLF	lung
22	chr3:23985200-23986000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr3:23985200-23986000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr3:23985200-23986000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr3:23985200-23986000	Enhancers	Hela-S3	cervix
26	chr3:23985200-23986200	Flanking Active TSS	Fetal Heart	heart
27	chr3:23985200-23986200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr3:23985400-23985600	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:23985400-23985600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr3:23985400-23985600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr3:23985400-23985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:23985400-23985600	Enhancers	Brain Anterior Caudate	brain
33	chr3:23985400-23985600	Flanking Active TSS	Fetal Kidney	kidney
34	chr3:23985400-23985800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr3:23985400-23985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:23985400-23985800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr3:23985400-23985800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr3:23985400-23985800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr3:23985400-23985800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:23985400-23985800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:23985400-23985800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:23985400-23985800	Enhancers	Liver	Liver
43	chr3:23985400-23985800	Enhancers	Fetal Stomach	stomach
44	chr3:23985400-23986000	Enhancers	Placenta	Placenta
45	chr3:23985400-23986200	Enhancers	Primary B cells from peripheral blood	blood
46	chr3:23985400-23986600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr3:23985600-23985800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:23985600-23985800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:23985600-23985800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:23985600-23985800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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