Variant report

Variant	esv3345173
Chromosome Location	chr3:48469473-48472321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:442)
CpG islands
(count:671)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:48471416-48471893	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:48470029-48470305	HepG2	liver:	n/a	n/a
3	ATF2	chr3:48471366-48471790	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:48471321-48471775	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr3:48471480-48471737	K562	blood:	n/a	n/a
6	BHLHE40	chr3:48471113-48471190	K562	blood:	n/a	n/a
7	BHLHE40	chr3:48471614-48471718	K562	blood:	n/a	n/a
8	BHLHE40	chr3:48470845-48471235	GM12878	blood:	n/a	n/a
9	BRCA1	chr3:48471342-48471639	HepG2	liver:	n/a	n/a
10	BRCA1	chr3:48471407-48471706	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr3:48471919-48472135	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr3:48470707-48470857	HepG2	liver:	n/a	n/a
13	CCNT2	chr3:48470530-48471636	K562	blood:	n/a	chr3:48471021-48471030
14	CEBPB	chr3:48471018-48471092	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr3:48470003-48470200	HepG2	liver:	n/a	n/a
16	CEBPB	chr3:48471314-48472008	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr3:48471325-48471866	A549	lung:	n/a	n/a
18	CEBPB	chr3:48471330-48471941	HepG2	liver:	n/a	n/a
19	CEBPB	chr3:48471375-48471868	HepG2	liver:	n/a	n/a
20	CEBPB	chr3:48471434-48471686	K562	blood:	n/a	n/a
21	CEBPB	chr3:48471425-48471811	A549	lung:	n/a	n/a
22	CEBPB	chr3:48471382-48471896	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr3:48471299-48471861	MCF-7	breast:	n/a	n/a
24	CEBPB	chr3:48471376-48471790	K562	blood:	n/a	n/a
25	CEBPB	chr3:48471476-48471771	A549	lung:	n/a	n/a
26	CEBPB	chr3:48471355-48471801	K562	blood:	n/a	n/a
27	CEBPB	chr3:48471388-48471817	IMR90	lung:	n/a	n/a
28	CEBPB	chr3:48471413-48471794	HepG2	liver:	n/a	n/a
29	CEBPB	chr3:48471278-48471921	MCF-7	breast:	n/a	n/a
30	CEBPB	chr3:48471321-48471822	HepG2	liver:	n/a	n/a
31	CEBPB	chr3:48471346-48471845	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr3:48471012-48472088	Hela-S3	cervix:	n/a	n/a
33	CEBPD	chr3:48470744-48471949	HepG2	liver:	n/a	n/a
34	CEBPD	chr3:48469856-48470725	HepG2	liver:	n/a	n/a
35	CEBPD	chr3:48470847-48471234	HepG2	liver:	n/a	n/a
36	CEBPD	chr3:48471401-48471779	HepG2	liver:	n/a	n/a
37	CHD1	chr3:48470407-48470753	H1-hESC	embryonic stem cell:	n/a	chr3:48470442-48470452
38	CHD1	chr3:48471011-48471063	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr3:48471321-48471777	H1-hESC	embryonic stem cell:	n/a	chr3:48471346-48471356 chr3:48471341-48471351
40	CHD1	chr3:48470779-48471184	GM12878	blood:	n/a	chr3:48471140-48471150
41	CHD2	chr3:48470722-48471252	GM12878	blood:	n/a	chr3:48471140-48471150
42	CHD2	chr3:48470892-48471807	Hela-S3	cervix:	n/a	chr3:48471346-48471356 chr3:48471140-48471150 chr3:48471341-48471351
43	CHD2	chr3:48471070-48471745	HepG2	liver:	n/a	chr3:48471346-48471356 chr3:48471140-48471150 chr3:48471341-48471351
44	CHD2	chr3:48470675-48471919	H1-hESC	embryonic stem cell:	n/a	chr3:48471346-48471356 chr3:48471140-48471150 chr3:48471341-48471351
45	CHD2	chr3:48470988-48471177	K562	blood:	n/a	chr3:48471140-48471150
46	CHD2	chr3:48470350-48470790	HepG2	liver:	n/a	chr3:48470442-48470452
47	CHD2	chr3:48469631-48470083	HepG2	liver:	n/a	n/a
48	CHD2	chr3:48471496-48471641	K562	blood:	n/a	n/a
49	CHD2	chr3:48472201-48472303	HepG2	liver:	n/a	n/a
50	CREB1	chr3:48469743-48473462	HepG2	liver:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48471695-48471745	Caco-2	colon:	n/a
2	chr3:48471233-48471283	AG04450	lung:	fetal
3	chr3:48471659-48471709	HCF	heart:	n/a
4	chr3:48470181-48470231	GM12891	blood:	n/a
5	chr3:48470799-48470849	LNCaP	prostate:	n/a
6	chr3:48470181-48470231	GM19239	blood:	n/a
7	chr3:48471695-48471745	MCF10A-Er-Src	breast:	n/a
8	chr3:48471695-48471745	ProgFib	skin:	n/a
9	chr3:48471233-48471283	NT2-D1	testis:	n/a
10	chr3:48471771-48471821	AG04450	lung:	fetal
11	chr3:48471771-48471821	T-47D	breast:	n/a
12	chr3:48471575-48471625	T-47D	breast:	n/a
13	chr3:48471771-48471821	Hela-S3	cervix:	n/a
14	chr3:48471218-48471268	BE2_C	brain:	n/a
15	chr3:48470799-48470849	MCF10A-Er-Src	breast:	n/a
16	chr3:48471233-48471283	PFSK-1	brain:	n/a
17	chr3:48470181-48470231	SK-N-SH	brain:	n/a
18	chr3:48470258-48470308	MCF-7	breast:	n/a
19	chr3:48471300-48471350	AG10803	skin:	n/a
20	chr3:48471771-48471821	Caco-2	colon:	n/a
21	chr3:48471695-48471745	HRCEpiC	kidney:	n/a
22	chr3:48471771-48471821	U87	brain:	n/a
23	chr3:48471218-48471268	BJ	skin:	n/a
24	chr3:48470258-48470308	HCT-116	colon:	n/a
25	chr3:48471575-48471625	ovcar-3	ovarian:	n/a
26	chr3:48471233-48471283	MCF10A-Er-Src	breast:	n/a
27	chr3:48471300-48471350	HIPEpiC	eye:	n/a
28	chr3:48470181-48470231	SKMC	muscle:	n/a
29	chr3:48471901-48471951	HepG2	liver:	n/a
30	chr3:48471233-48471283	HNPCEpiC	eye:	n/a
31	chr3:48471771-48471821	SKMC	muscle:	n/a
32	chr3:48471575-48471625	Jurkat	blood:	n/a
33	chr3:48471695-48471745	GM12878	blood:	n/a
34	chr3:48471901-48471951	NHBE	bronchial:	n/a
35	chr3:48470258-48470308	NHBE	bronchial:	n/a
36	chr3:48470799-48470849	NB4	blood:	n/a
37	chr3:48471901-48471951	HL-60	blood:	n/a
38	chr3:48470181-48470231	PrEC	prostate:	n/a
39	chr3:48471218-48471268	HCPEpiC	choroid plexus:	n/a
40	chr3:48470181-48470231	Hepatocyte	liver:	n/a
41	chr3:48471659-48471709	HNPCEpiC	eye:	n/a
42	chr3:48471233-48471283	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:48471771-48471821	HCF	heart:	n/a
44	chr3:48471233-48471283	NHDF-neo	bronchial:	n/a
45	chr3:48471575-48471625	K562	blood:	n/a
46	chr3:48471771-48471821	HCPEpiC	choroid plexus:	n/a
47	chr3:48471300-48471350	ProgFib	skin:	n/a
48	chr3:48470181-48470231	AG09319	gingival:	n/a
49	chr3:48471659-48471709	PFSK-1	brain:	n/a
50	chr3:48471695-48471745	H1-hESC	embryonic stem cell:	embryo

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48447403..48451386-chr3:48469064..48473166,5	MCF-7	breast:
2	chr3:48469238..48470766-chr3:48475328..48477578,2	K562	blood:
3	chr3:48454313..48457718-chr3:48468090..48471775,3	MCF-7	breast:
4	chr3:48438455..48441230-chr3:48472169..48474219,2	MCF-7	breast:
5	chr3:48263892..48266561-chr3:48472281..48474384,2	MCF-7	breast:
6	chr2:241503199..241505771-chr3:48469733..48471743,2	MCF-7	breast:
7	chr3:48341872..48344261-chr3:48469680..48472661,4	MCF-7	breast:
8	chr3:48469445..48473059-chr3:48486174..48489531,5	MCF-7	breast:
9	chr3:48468569..48471339-chr3:48481498..48483135,2	MCF-7	breast:
10	chr3:48468825..48473989-chr3:48477233..48479904,8	MCF-7	breast:
11	chr3:48281213..48283691-chr3:48469389..48472428,3	K562	blood:
12	chr3:48340975..48343990-chr3:48471746..48476834,5	MCF-7	breast:
13	chr3:48468360..48471756-chr3:48485148..48489754,5	K562	blood:
14	chr3:48342140..48344321-chr3:48467110..48469904,2	K562	blood:
15	chr3:48301212..48303241-chr3:48468487..48470721,2	MCF-7	breast:
16	chr3:48282380..48283987-chr3:48469620..48473031,3	MCF-7	breast:
17	chr3:48449321..48451479-chr3:48469134..48470813,2	K562	blood:
18	chr3:48282088..48283714-chr3:48470890..48472488,2	MCF-7	breast:
19	chr3:48472201..48473721-chr3:48483082..48485224,2	MCF-7	breast:
20	chr3:48470951..48473880-chr3:48506965..48509988,4	MCF-7	breast:
21	chr3:48468692..48470258-chr3:48540999..48543179,2	K562	blood:
22	chr1:8937871..8938802-chr3:48470851..48471584,2	Hela-S3	cervix:
23	chr3:48262147..48265261-chr3:48469207..48471708,3	MCF-7	breast:
24	chr3:48464457..48466240-chr3:48471640..48473248,2	K562	blood:
25	chr3:48469539..48472280-chr3:48487900..48489460,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLXNB1	TF binding region
PLXNB1	CpG island
ENSG00000164053	chromatin interactions
ENSG00000164051	chromatin interactions
ENSG00000164048	chromatin interactions
ENSG00000213689	chromatin interactions
ENSG00000164047	chromatin interactions
ENSG00000236269	chromatin interactions
ENSG00000232112	chromatin interactions
ENSG00000142327	chromatin interactions
ENSG00000172113	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000164050	chromatin interactions
ENSG00000164054	chromatin interactions
ENSG00000074800	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77719586	chr3:48469628-48469629	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs544184257	chr3:48469655-48469656	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs556200628	chr3:48469755-48469756	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs577787915	chr3:48469779-48469780	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs545105301	chr3:48469782-48469783	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs560026774	chr3:48469801-48469802	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs527460397	chr3:48469805-48469806	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs542505194	chr3:48469826-48469827	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs560839528	chr3:48469827-48469828	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs531511555	chr3:48469949-48469950	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs550532467	chr3:48469950-48469951	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs568926808	chr3:48469973-48469974	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs368105449	chr3:48469976-48469977	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs371393273	chr3:48470035-48470036	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs372186136	chr3:48470055-48470056	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs139652167	chr3:48470078-48470079	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs566897148	chr3:48470168-48470169	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs539673993	chr3:48470202-48470203	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs111727941	chr3:48470232-48470233	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs534393811	chr3:48470277-48470278	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs374999979	chr3:48470283-48470284	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs192461836	chr3:48470308-48470309	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs538563272	chr3:48470325-48470326	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs182679612	chr3:48470361-48470362	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs968429	chr3:48470424-48470425	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs538286171	chr3:48470489-48470490	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs145842830	chr3:48470519-48470520	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs572087151	chr3:48470527-48470528	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs9872722	chr3:48470535-48470536	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560752351	chr3:48470551-48470552	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs575896992	chr3:48470566-48470567	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs543297135	chr3:48470595-48470596	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs564863775	chr3:48470607-48470608	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs533355882	chr3:48470697-48470698	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs9817615	chr3:48470756-48470757	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs560590148	chr3:48470764-48470765	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs148127356	chr3:48470803-48470804	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs549574095	chr3:48470824-48470825	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs567877798	chr3:48470888-48470889	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs538476896	chr3:48470892-48470893	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs34477466	chr3:48470924-48470925	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs550476208	chr3:48470970-48470971	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs571895174	chr3:48470991-48470992	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs538620916	chr3:48471032-48471033	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs553498299	chr3:48471073-48471074	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs572060551	chr3:48471077-48471078	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs565916813	chr3:48471101-48471102	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs554278225	chr3:48471125-48471126	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs575809192	chr3:48471235-48471236	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs114716147	chr3:48471262-48471263	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48462600-48469600	Enhancers	Left Ventricle	heart
2	chr3:48466200-48470000	Enhancers	Spleen	Spleen
3	chr3:48466400-48469600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:48466400-48470000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:48466400-48470000	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr3:48466600-48469600	Enhancers	Gastric	stomach
7	chr3:48466600-48469800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr3:48466600-48470000	Enhancers	Placenta	Placenta
9	chr3:48466800-48469800	Flanking Active TSS	Fetal Brain Female	brain
10	chr3:48466800-48469800	Flanking Active TSS	HMEC	breast
11	chr3:48466800-48470000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:48466800-48470200	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr3:48467000-48470000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr3:48467000-48470000	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr3:48467200-48469800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr3:48467200-48470000	Flanking Active TSS	HSMMtube	muscle
17	chr3:48467200-48470200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:48467400-48470000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:48467600-48469800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr3:48467800-48471400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr3:48468000-48470000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:48468000-48470000	Flanking Active TSS	Ovary	ovary
23	chr3:48468000-48470200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:48468000-48471400	Active TSS	Brain Cingulate Gyrus	brain
25	chr3:48468200-48469800	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr3:48468200-48470000	Flanking Active TSS	Liver	Liver
27	chr3:48468200-48470000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr3:48468200-48470200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:48468200-48470200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr3:48468400-48469600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr3:48468400-48469800	Transcr. at gene 5' and 3'	NHEK	skin
32	chr3:48468400-48470200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr3:48468600-48469600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:48468600-48470000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:48468600-48470000	Flanking Active TSS	Colonic Mucosa	Colon
36	chr3:48468600-48470000	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr3:48468600-48470000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr3:48468600-48470200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr3:48468600-48470200	Flanking Active TSS	HSMM	muscle
40	chr3:48468600-48472000	Active TSS	Fetal Kidney	kidney
41	chr3:48468800-48469600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:48468800-48469600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:48468800-48469600	Enhancers	GM12878-XiMat	blood
44	chr3:48468800-48469800	Enhancers	Right Atrium	heart
45	chr3:48468800-48470000	Flanking Active TSS	Fetal Brain Male	brain
46	chr3:48468800-48470000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
47	chr3:48468800-48470000	Flanking Active TSS	Pancreas	Pancrea
48	chr3:48468800-48470000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr3:48468800-48471800	Active TSS	Aorta	Aorta
50	chr3:48468800-48472000	Active TSS	Pancreatic Islets	Pancreatic Islet

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