Variant report

Variant	rs565486878
Chromosome Location	chr3:43327503-43327504
allele	C/G
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	E2F4	chr3:43327418-43328182	MCF10A-Er-Src	breast:	n/a	chr3:43328022-43328031 chr3:43327675-43327687 chr3:43327996-43328005 chr3:43327972-43327983 chr3:43327998-43328007
2	MYC	chr3:43327469-43327972	H1-hESC	embryonic stem cell:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
3	CTCF	chr3:43327440-43327590	GM12865	blood:	n/a	n/a
4	MAX	chr3:43327199-43328223	HepG2	liver:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
5	TCF7L2	chr3:43327399-43327975	Hela-S3	cervix:	n/a	n/a
6	E2F6	chr3:43327426-43328107	A549	lung:	n/a	chr3:43328022-43328031 chr3:43327675-43327687 chr3:43327996-43328005 chr3:43327998-43328007
7	CHD2	chr3:43327330-43328199	Hela-S3	cervix:	n/a	chr3:43327825-43327835
8	RCOR1	chr3:43327486-43328187	GM12878	blood:	n/a	n/a
9	MAX	chr3:43327499-43328007	A549	lung:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
10	MAX	chr3:43327057-43328071	H1-hESC	embryonic stem cell:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
11	BHLHE40	chr3:43327317-43327927	HepG2	liver:	n/a	n/a
12	MYC	chr3:43327500-43328078	A549	lung:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
13	CTCF	chr3:43327500-43327650	GM12866	blood:	n/a	n/a
14	E2F6	chr3:43327498-43328369	K562	blood:	n/a	chr3:43328022-43328031 chr3:43328218-43328228 chr3:43327675-43327687 chr3:43327996-43328005 chr3:43327998-43328007
15	HCFC1	chr3:43327496-43328444	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr3:43327500-43327650	A549	lung:	n/a	n/a
17	CREB1	chr3:43327461-43328353	K562	blood:	n/a	chr3:43327995-43328008
18	HA-E2F1	chr3:43327351-43328964	MCF-7	breast:	n/a	chr3:43328022-43328031 chr3:43328218-43328228 chr3:43327675-43327687 chr3:43327996-43328005 chr3:43327998-43328007
19	REST	chr3:43327496-43329034	H1-neurons	neurons:	n/a	chr3:43328484-43328504 chr3:43328484-43328504 chr3:43328484-43328504 chr3:43327806-43327824 chr3:43327811-43327825
20	POLR2A	chr3:43327468-43329047	Hela-S3	cervix:	n/a	n/a
21	MAX	chr3:43327427-43328186	A549	lung:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
22	E2F4	chr3:43327393-43328725	K562	blood:	n/a	chr3:43328022-43328031 chr3:43328218-43328228 chr3:43327675-43327687 chr3:43327996-43328005 chr3:43327972-43327983 chr3:43327998-43328007
23	CHD1	chr3:43327287-43327662	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr3:43327397-43328215	HCT-116	colon:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
25	MXI1	chr3:43327090-43329521	SK-N-SH	brain:	n/a	n/a
26	E2F6	chr3:43327027-43328109	H1-hESC	embryonic stem cell:	n/a	chr3:43328022-43328031 chr3:43327675-43327687 chr3:43327996-43328005 chr3:43327998-43328007
27	MAZ	chr3:43327241-43329167	IMR90	lung:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
28	MAX	chr3:43327131-43327888	H1-hESC	embryonic stem cell:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
29	POLR2A	chr3:43327373-43334384	HUVEC	blood vessel:	n/a	n/a
30	MAX	chr3:43327463-43328319	Hela-S3	cervix:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
31	POLR2A	chr3:43327485-43328334	HUVEC	blood vessel:	n/a	n/a
32	SMC3	chr3:43327473-43328174	Hela-S3	cervix:	n/a	chr3:43327712-43327726 chr3:43327712-43327722
33	E2F6	chr3:43327480-43328145	H1-hESC	embryonic stem cell:	n/a	chr3:43328022-43328031 chr3:43327675-43327687 chr3:43327996-43328005 chr3:43327998-43328007
34	MAX	chr3:43327446-43328234	ECC-1	luminal epithelium:	n/a	chr3:43327715-43327725 chr3:43327830-43327840
35	POLR2A	chr3:43326904-43328910	H1-hESC	embryonic stem cell:	n/a	n/a
36	SMARCB1	chr3:43327122-43328715	Hela-S3	cervix:	n/a	n/a
37	SIN3A	chr3:43327042-43329011	H1-hESC	embryonic stem cell:	n/a	chr3:43327714-43327725 chr3:43327810-43327824 chr3:43327871-43327882
38	MXI1	chr3:43327291-43328737	HepG2	liver:	n/a	n/a
39	MXI1	chr3:43327387-43328325	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:43327465-43327515	PANC-1	pancreas:	n/a
2	chr3:43327465-43327515	Caco-2	colon:	n/a
3	chr3:43327465-43327515	K562	blood:	n/a
4	chr3:43327465-43327515	SK-N-SH_RA	brain:	n/a
5	chr3:43327465-43327515	ovcar-3	ovarian:	n/a
6	chr3:43327465-43327515	AG09319	gingival:	n/a
7	chr3:43327465-43327515	ECC-1	luminal epithelium:	n/a
8	chr3:43327465-43327515	NHDF-neo	bronchial:	n/a
9	chr3:43327465-43327515	CMK	blood:	n/a
10	chr3:43327465-43327515	MCF10A-Er-Src	breast:	n/a
11	chr3:43327465-43327515	AG04450	lung:	fetal
12	chr3:43327465-43327515	BE2_C	brain:	n/a
13	chr3:43327465-43327515	HCF	heart:	n/a
14	chr3:43327465-43327515	HRE	kidney:	n/a
15	chr3:43327465-43327515	RPTEC	kidney:	n/a
16	chr3:43327465-43327515	NB4	blood:	n/a
17	chr3:43327465-43327515	HCT-116	colon:	n/a
18	chr3:43327465-43327515	PFSK-1	brain:	n/a
19	chr3:43327465-43327515	Jurkat	blood:	n/a
20	chr3:43327465-43327515	BJ	skin:	n/a
21	chr3:43327465-43327515	AoSMC	blood vessel:	n/a
22	chr3:43327465-43327515	U87	brain:	n/a
23	chr3:43327465-43327515	Hepatocyte	liver:	n/a
24	chr3:43327465-43327515	AG04449	skin:	fetal
25	chr3:43327465-43327515	IMR90	lung:	fetal
26	chr3:43327465-43327515	H1-hESC	embryonic stem cell:	embryo
27	chr3:43327465-43327515	GM12892	blood:	n/a
28	chr3:43327465-43327515	PrEC	prostate:	n/a
29	chr3:43327465-43327515	GM06990	blood:	n/a
30	chr3:43327465-43327515	HepG2	liver:	n/a
31	chr3:43327465-43327515	LNCaP	prostate:	n/a
32	chr3:43327465-43327515	HCPEpiC	choroid plexus:	n/a
33	chr3:43327465-43327515	HCM	heart:	n/a
34	chr3:43327465-43327515	MCF-7	breast:	n/a
35	chr3:43327465-43327515	GM12878	blood:	n/a
36	chr3:43327465-43327515	NT2-D1	testis:	n/a
37	chr3:43327465-43327515	NHBE	bronchial:	n/a
38	chr3:43327465-43327515	HL-60	blood:	n/a
39	chr3:43327465-43327515	HMEC	breast:	n/a
40	chr3:43327465-43327515	HRCEpiC	kidney:	n/a
41	chr3:43327465-43327515	HIPEpiC	eye:	n/a
42	chr3:43327465-43327515	SKMC	muscle:	n/a
43	chr3:43327465-43327515	SK-N-MC	brain:	n/a
44	chr3:43327465-43327515	HEK293	kidney:	embryo
45	chr3:43327465-43327515	GM12891	blood:	n/a
46	chr3:43327465-43327515	T-47D	breast:	n/a
47	chr3:43327465-43327515	HUVEC	blood vessel:	n/a
48	chr3:43327465-43327515	AG09309	skin:	n/a
49	chr3:43327465-43327515	HEEpiC	esophagus:	n/a
50	chr3:43327465-43327515	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:43305979..43308043-chr3:43325669..43327950,2	MCF-7	breast:
2	chr3:43314193..43316141-chr3:43325214..43327876,2	K562	blood:
3	chr10:98346013..98346591-chr3:43327414..43328126,2	Hela-S3	cervix:
4	chr3:43325116..43327718-chr3:43329418..43331490,2	K562	blood:

Variant related genes	Relation type
SNRK	TF binding region
SNRK	CpG island
ENSG00000077147	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3420235	chr3:43326048-43330246	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv876732	chr3:43326887-43360879	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3527908	chr3:43327298-43329521	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3527909	chr3:43327298-43329521	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43318800-43327800	Weak transcription	Small Intestine	intestine
2	chr3:43326400-43327600	Enhancers	HUVEC	blood vessel
3	chr3:43326800-43327600	Enhancers	Fetal Thymus	thymus
4	chr3:43326800-43327600	Enhancers	Spleen	Spleen
5	chr3:43327000-43327600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:43327000-43327600	Enhancers	Esophagus	oesophagus
7	chr3:43327000-43327600	Enhancers	Fetal Muscle Leg	muscle
8	chr3:43327000-43327600	Enhancers	Left Ventricle	heart
9	chr3:43327000-43327600	Enhancers	Right Ventricle	heart
10	chr3:43327000-43327600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:43327000-43327600	Enhancers	Stomach Mucosa	stomach
12	chr3:43327200-43327600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr3:43327200-43327600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:43327200-43327600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr3:43327200-43327600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:43327200-43327600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:43327200-43327600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:43327200-43327600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr3:43327200-43327600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:43327200-43327600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr3:43327200-43327600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr3:43327200-43327600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr3:43327200-43327600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:43327200-43327600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr3:43327200-43327600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:43327200-43327600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:43327200-43327600	Enhancers	Liver	Liver
28	chr3:43327200-43327600	Enhancers	Brain Angular Gyrus	brain
29	chr3:43327200-43327600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr3:43327200-43327600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:43327200-43327600	Enhancers	Colonic Mucosa	Colon
32	chr3:43327200-43327600	Enhancers	Fetal Intestine Small	intestine
33	chr3:43327200-43327600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr3:43327200-43327600	Enhancers	Placenta	Placenta
35	chr3:43327200-43327600	Enhancers	Pancreas	Pancrea
36	chr3:43327200-43327600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr3:43327200-43327600	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:43327200-43327600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr3:43327200-43327600	Flanking Active TSS	Hela-S3	cervix
40	chr3:43327200-43327600	Enhancers	HMEC	breast
41	chr3:43327200-43327800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr3:43327200-43327800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:43327200-43327800	Flanking Active TSS	Dnd41	blood
44	chr3:43327200-43328800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr3:43327200-43328800	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr3:43327200-43328800	Active TSS	Brain Germinal Matrix	brain
47	chr3:43327200-43328800	Active TSS	Brain Hippocampus Middle	brain
48	chr3:43327200-43329000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:43327200-43329000	Active TSS	Fetal Brain Female	brain
50	chr3:43327200-43329200	Active TSS	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links