Variant report

Variant	nsv822075
Chromosome Location	chr3:48698492-48699585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:315)
CpG islands
(count:305)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:48699155-48699487	HepG2	liver:	n/a	n/a
2	ATF2	chr3:48699005-48699484	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr3:48699029-48699495	GM12878	blood:	n/a	n/a
4	ATF2	chr3:48699086-48699504	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:48699217-48699288	K562	blood:	n/a	n/a
6	BATF	chr3:48699166-48699374	GM12878	blood:	n/a	n/a
7	BCLAF1	chr3:48699066-48699452	GM12878	blood:	n/a	n/a
8	BHLHE40	chr3:48699134-48699469	K562	blood:	n/a	n/a
9	BHLHE40	chr3:48699110-48699482	GM12878	blood:	n/a	n/a
10	CBX3	chr3:48698904-48699488	K562	blood:	n/a	n/a
11	CBX3	chr3:48699154-48699414	K562	blood:	n/a	n/a
12	CCNT2	chr3:48699109-48699466	K562	blood:	n/a	n/a
13	CCNT2	chr3:48698523-48698566	K562	blood:	n/a	n/a
14	CEBPB	chr3:48698992-48698999	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr3:48698915-48699304	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr3:48699127-48699435	GM12878	blood:	n/a	n/a
17	CHD2	chr3:48699126-48699459	GM12878	blood:	n/a	n/a
18	CHD2	chr3:48699132-48699580	HepG2	liver:	n/a	n/a
19	CHD2	chr3:48699139-48699462	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr3:48699103-48699431	K562	blood:	n/a	n/a
21	CREB1	chr3:48699193-48699348	A549	lung:	n/a	n/a
22	CREB1	chr3:48698992-48699510	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr3:48699153-48699449	A549	lung:	n/a	n/a
24	CTCF	chr3:48699179-48699355	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr3:48699265-48699322	GM12878	blood:	n/a	n/a
26	CTCF	chr3:48699020-48699170	GM12871	blood:	n/a	n/a
27	CTCF	chr3:48699080-48699230	SAEC	small airway:	n/a	n/a
28	CTCF	chr3:48698940-48699090	HUVEC	blood vessel:	n/a	n/a
29	E2F6	chr3:48699130-48699374	K562	blood:	n/a	n/a
30	E2F6	chr3:48698883-48699034	K562	blood:	n/a	n/a
31	EBF1	chr3:48699029-48699307	GM12878	blood:	n/a	n/a
32	EBF1	chr3:48699099-48699338	GM12878	blood:	n/a	n/a
33	EBF1	chr3:48698997-48699317	GM12878	blood:	n/a	n/a
34	ELF1	chr3:48699094-48699370	K562	blood:	n/a	n/a
35	ELF1	chr3:48699088-48699463	HepG2	liver:	n/a	n/a
36	ELF1	chr3:48699122-48699459	HepG2	liver:	n/a	n/a
37	ELF1	chr3:48698877-48699851	GM12878	blood:	n/a	n/a
38	ELF1	chr3:48699067-48699470	GM12878	blood:	n/a	n/a
39	ELF1	chr3:48698957-48699495	K562	blood:	n/a	n/a
40	ELK1	chr3:48699167-48699353	K562	blood:	n/a	n/a
41	EP300	chr3:48699146-48699409	HepG2	liver:	n/a	n/a
42	ETS1	chr3:48699071-48699439	GM12878	blood:	n/a	n/a
43	ETS1	chr3:48699056-48699516	GM12878	blood:	n/a	n/a
44	ETS1	chr3:48698965-48699444	K562	blood:	n/a	n/a
45	ETS1	chr3:48699021-48699500	K562	blood:	n/a	n/a
46	FOSL2	chr3:48699031-48699516	HepG2	liver:	n/a	n/a
47	FOXM1	chr3:48699087-48699479	GM12878	blood:	n/a	n/a
48	GABPA	chr3:48698806-48699423	H1-hESC	embryonic stem cell:	n/a	n/a
49	GABPA	chr3:48699110-48699392	HepG2	liver:	n/a	n/a
50	GABPA	chr3:48699023-48699530	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48699373-48699423	SK-N-MC	brain:	n/a
2	chr3:48698558-48698608	HCPEpiC	choroid plexus:	n/a
3	chr3:48699012-48699062	HPAEpiC	pulmonary alveolar:	n/a
4	chr3:48698519-48698569	NH-A	brain:	n/a
5	chr3:48699090-48699140	HEK293	kidney:	embryo
6	chr3:48698558-48698608	HRE	kidney:	n/a
7	chr3:48698558-48698608	PANC-1	pancreas:	n/a
8	chr3:48698519-48698569	GM12878	blood:	n/a
9	chr3:48698519-48698569	GM12892	blood:	n/a
10	chr3:48699373-48699423	HUVEC	blood vessel:	n/a
11	chr3:48699090-48699140	HepG2	liver:	n/a
12	chr3:48699012-48699062	Caco-2	colon:	n/a
13	chr3:48699012-48699062	HL-60	blood:	n/a
14	chr3:48699090-48699140	PrEC	prostate:	n/a
15	chr3:48698558-48698608	HNPCEpiC	eye:	n/a
16	chr3:48698519-48698569	Hela-S3	cervix:	n/a
17	chr3:48699373-48699423	HMEC	breast:	n/a
18	chr3:48699373-48699423	Caco-2	colon:	n/a
19	chr3:48699090-48699140	RPTEC	kidney:	n/a
20	chr3:48699090-48699140	CMK	blood:	n/a
21	chr3:48698558-48698608	HepG2	liver:	n/a
22	chr3:48699090-48699140	MCF10A-Er-Src	breast:	n/a
23	chr3:48699090-48699140	SK-N-MC	brain:	n/a
24	chr3:48699012-48699062	HRPEpiC	eye:	n/a
25	chr3:48699373-48699423	AG04450	lung:	fetal
26	chr3:48698519-48698569	SK-N-SH	brain:	n/a
27	chr3:48698558-48698608	BJ	skin:	n/a
28	chr3:48698558-48698608	BE2_C	brain:	n/a
29	chr3:48698558-48698608	HCT-116	colon:	n/a
30	chr3:48699090-48699140	LNCaP	prostate:	n/a
31	chr3:48698519-48698569	LNCaP	prostate:	n/a
32	chr3:48699090-48699140	NHBE	bronchial:	n/a
33	chr3:48698558-48698608	SAEC	small airway:	n/a
34	chr3:48698519-48698569	K562	blood:	n/a
35	chr3:48698519-48698569	ECC-1	luminal epithelium:	n/a
36	chr3:48699012-48699062	U87	brain:	n/a
37	chr3:48699373-48699423	SK-N-SH_RA	brain:	n/a
38	chr3:48699373-48699423	GM06990	blood:	n/a
39	chr3:48698519-48698569	ProgFib	skin:	n/a
40	chr3:48698558-48698608	H1-hESC	embryonic stem cell:	embryo
41	chr3:48699012-48699062	GM12891	blood:	n/a
42	chr3:48698519-48698569	PANC-1	pancreas:	n/a
43	chr3:48699012-48699062	RPTEC	kidney:	n/a
44	chr3:48698519-48698569	BJ	skin:	n/a
45	chr3:48699012-48699062	BE2_C	brain:	n/a
46	chr3:48698558-48698608	HCM	heart:	n/a
47	chr3:48698519-48698569	HIPEpiC	eye:	n/a
48	chr3:48699012-48699062	HAEpiC	amniotic membrane:	n/a
49	chr3:48698558-48698608	GM12878	blood:	n/a
50	chr3:48699012-48699062	HRE	kidney:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48699299..48703873-chr3:48715927..48726939,20	MCF-7	breast:
2	chr3:48670997..48674874-chr3:48698947..48702118,7	MCF-7	breast:
3	chr3:48686766..48690063-chr3:48696074..48699163,3	MCF-7	breast:
4	chr3:48698738..48703197-chr3:48713751..48717809,8	K562	blood:
5	chr3:48695950..48699824-chr3:48710158..48713070,3	K562	blood:
6	chr3:48699225..48701604-chr3:48731929..48734312,2	MCF-7	breast:
7	chr3:48647141..48648853-chr3:48697785..48700969,3	MCF-7	breast:
8	chr3:48698351..48700757-chr3:49057854..49060697,2	K562	blood:
9	chr3:48675163..48677992-chr3:48697938..48699928,2	K562	blood:
10	chr3:48686566..48688475-chr3:48697453..48700260,2	MCF-7	breast:
11	chr3:48698129..48704726-chr3:48706101..48715056,13	MCF-7	breast:
12	chr3:48678686..48683466-chr3:48696483..48700259,5	K562	blood:
13	chr3:48699555..48701541-chr3:49130676..49133286,2	K562	blood:
14	chr3:48667529..48675453-chr3:48697968..48703139,10	MCF-7	breast:
15	chr3:48602276..48604378-chr3:48697664..48699278,2	K562	blood:
16	chr3:48698197..48700148-chr3:48700175..48701734,2	MCF-7	breast:
17	chr3:48593030..48597118-chr3:48698507..48702121,6	MCF-7	breast:
18	chr3:48697809..48699544-chr3:49049957..49052349,2	MCF-7	breast:
19	chr3:48699257..48701574-chr3:49057854..49059590,2	K562	blood:
20	chr3:48678987..48680520-chr3:48698680..48701564,2	K562	blood:
21	chr3:48659070..48661619-chr3:48697247..48699239,2	K562	blood:
22	chr3:48670764..48674544-chr3:48698929..48702803,9	K562	blood:
23	chr3:48670764..48674544-chr3:48699167..48702803,6	K562	blood:
24	chr3:48699573..48703813-chr3:48719476..48724654,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228350	TF binding region
ENSG00000228350	CpG island
ENSG00000271973	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000228350	chromatin interactions
ENSG00000225697	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000068745	chromatin interactions
ENSG00000008300	chromatin interactions
ENSG00000213672	chromatin interactions
ENSG00000198218	chromatin interactions
ENSG00000178252	chromatin interactions
ENSG00000114268	chromatin interactions
ENSG00000207605	chromatin interactions
ENSG00000114270	chromatin interactions
ENSG00000183396	chromatin interactions
ENSG00000263898	chromatin interactions
ENSG00000010256	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575988114	chr3:48698500-48698501	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs543483822	chr3:48698501-48698502	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs564877682	chr3:48698553-48698554	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs371842449	chr3:48698576-48698577	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs374679965	chr3:48698592-48698593	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs369845082	chr3:48698618-48698619	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs540779155	chr3:48698631-48698632	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs199931654	chr3:48698644-48698645	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs375384895	chr3:48698667-48698668	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs138120555	chr3:48698677-48698678	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs144271865	chr3:48698694-48698695	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs143147049	chr3:48698695-48698696	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs145748206	chr3:48698745-48698746	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs548220377	chr3:48698757-48698758	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs534448979	chr3:48698760-48698761	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs375958257	chr3:48698761-48698762	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs377234475	chr3:48698798-48698799	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs111946927	chr3:48698817-48698818	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs201759202	chr3:48698827-48698828	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs201005192	chr3:48698829-48698830	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs112611877	chr3:48698830-48698831	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs369195581	chr3:48698875-48698876	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs145270816	chr3:48698904-48698905	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs149661492	chr3:48698923-48698924	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs373347696	chr3:48698928-48698929	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs145479624	chr3:48698929-48698930	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs200621704	chr3:48698930-48698931	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs377325964	chr3:48698957-48698958	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs76461489	chr3:48698962-48698963	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs146833439	chr3:48699007-48699008	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs140670167	chr3:48699015-48699016	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs371289532	chr3:48699056-48699057	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs376308692	chr3:48699060-48699061	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs376907254	chr3:48699062-48699063	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs371312429	chr3:48699114-48699115	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs76423828	chr3:48699134-48699135	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs138744037	chr3:48699139-48699140	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs374177203	chr3:48699145-48699146	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs147483684	chr3:48699168-48699169	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs557884107	chr3:48699198-48699199	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs200276261	chr3:48699204-48699205	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs539141585	chr3:48699207-48699208	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs144110679	chr3:48699300-48699301	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs139099179	chr3:48699332-48699333	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs144021269	chr3:48699410-48699411	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs144379309	chr3:48699437-48699438	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs370150454	chr3:48699470-48699471	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs13085828	chr3:48699475-48699476	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs3733088	chr3:48699479-48699480	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs145370936	chr3:48699482-48699483	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48694000-48698800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:48694200-48698600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:48694200-48698600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:48694200-48698600	Weak transcription	HSMMtube	muscle
5	chr3:48694200-48699000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:48694400-48698600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:48694400-48698600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:48694400-48698800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:48694400-48698800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:48694400-48698800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:48694400-48698800	Weak transcription	HUVEC	blood vessel
12	chr3:48694600-48698800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:48694600-48698800	Weak transcription	Brain Substantia Nigra	brain
14	chr3:48694800-48698600	Weak transcription	Left Ventricle	heart
15	chr3:48694800-48698800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:48694800-48698800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:48694800-48698800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:48695000-48698800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:48695400-48698600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:48696200-48698600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:48696200-48698800	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr3:48696400-48698600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:48696600-48698600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:48696800-48698600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:48696800-48698600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:48696800-48699000	Enhancers	Spleen	Spleen
27	chr3:48697200-48699000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:48697600-48698600	Weak transcription	Esophagus	oesophagus
29	chr3:48697600-48699000	Weak transcription	Brain Angular Gyrus	brain
30	chr3:48697800-48698600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:48697800-48698600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:48697800-48698800	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:48697800-48698800	Enhancers	Fetal Brain Male	brain
34	chr3:48697800-48699800	Weak transcription	A549	lung
35	chr3:48698000-48698600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
36	chr3:48698000-48698800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:48698000-48698800	Weak transcription	Brain Anterior Caudate	brain
38	chr3:48698000-48698800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
39	chr3:48698000-48698800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr3:48698000-48698800	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr3:48698200-48698600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:48698200-48698600	Enhancers	Pancreas	Pancrea
43	chr3:48698200-48698800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:48698200-48698800	Enhancers	Right Ventricle	heart
45	chr3:48698400-48698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:48698400-48698600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:48698400-48698600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr3:48698400-48698600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:48698400-48698600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:48698400-48698600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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