Variant report

Variant	rs72884905
Chromosome Location	chr3:45927590-45927591
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr3:45927493-45929246	GM12878	blood:	n/a	n/a
2	USF1	chr3:45927504-45927785	H1-hESC	embryonic stem cell:	n/a	n/a
3	MTA3	chr3:45927578-45929612	GM12878	blood:	n/a	n/a
4	PML	chr3:45927287-45928625	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:45927589-45927639	PrEC	prostate:	n/a
2	chr3:45927589-45927639	ovcar-3	ovarian:	n/a
3	chr3:45927589-45927639	H1-hESC	embryonic stem cell:	embryo
4	chr3:45927589-45927639	HUVEC	blood vessel:	n/a
5	chr3:45927589-45927639	Caco-2	colon:	n/a
6	chr3:45927589-45927639	SK-N-MC	brain:	n/a
7	chr3:45927589-45927639	ECC-1	luminal epithelium:	n/a
8	chr3:45927589-45927639	CMK	blood:	n/a
9	chr3:45927589-45927639	NHDF-neo	bronchial:	n/a
10	chr3:45927589-45927639	NB4	blood:	n/a
11	chr3:45927589-45927639	U87	brain:	n/a
12	chr3:45927589-45927639	AoSMC	blood vessel:	n/a
13	chr3:45927589-45927639	HCF	heart:	n/a
14	chr3:45927589-45927639	RPTEC	kidney:	n/a
15	chr3:45927589-45927639	ProgFib	skin:	n/a
16	chr3:45927589-45927639	T-47D	breast:	n/a
17	chr3:45927589-45927639	MCF10A-Er-Src	breast:	n/a
18	chr3:45927589-45927639	HCPEpiC	choroid plexus:	n/a
19	chr3:45927589-45927639	GM19239	blood:	n/a
20	chr3:45927589-45927639	SKMC	muscle:	n/a
21	chr3:45927589-45927639	GM12878	blood:	n/a
22	chr3:45927589-45927639	Hela-S3	cervix:	n/a
23	chr3:45927589-45927639	LNCaP	prostate:	n/a
24	chr3:45927589-45927639	SK-N-SH	brain:	n/a
25	chr3:45927589-45927639	AG09309	skin:	n/a
26	chr3:45927589-45927639	AG09319	gingival:	n/a
27	chr3:45927589-45927639	HNPCEpiC	eye:	n/a
28	chr3:45927589-45927639	MCF-7	breast:	n/a
29	chr3:45927589-45927639	HRPEpiC	eye:	n/a
30	chr3:45927589-45927639	K562	blood:	n/a
31	chr3:45927589-45927639	NHBE	bronchial:	n/a
32	chr3:45927589-45927639	GM12891	blood:	n/a
33	chr3:45927589-45927639	BE2_C	brain:	n/a
34	chr3:45927589-45927639	SAEC	small airway:	n/a
35	chr3:45927589-45927639	HEK293	kidney:	embryo
36	chr3:45927589-45927639	HL-60	blood:	n/a
37	chr3:45927589-45927639	PANC-1	pancreas:	n/a
38	chr3:45927589-45927639	IMR90	lung:	fetal
39	chr3:45927589-45927639	HMEC	breast:	n/a
40	chr3:45927589-45927639	HCM	heart:	n/a
41	chr3:45927589-45927639	AG04450	lung:	fetal
42	chr3:45927589-45927639	HIPEpiC	eye:	n/a
43	chr3:45927589-45927639	NT2-D1	testis:	n/a
44	chr3:45927589-45927639	HPAEpiC	pulmonary alveolar:	n/a
45	chr3:45927589-45927639	GM12892	blood:	n/a
46	chr3:45927589-45927639	Hepatocyte	liver:	n/a
47	chr3:45927589-45927639	BJ	skin:	n/a
48	chr3:45927589-45927639	AG04449	skin:	fetal
49	chr3:45927589-45927639	HRCEpiC	kidney:	n/a
50	chr3:45927589-45927639	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45926033..45927764-chr3:45930886..45932816,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236930	TF binding region
CCR9	TF binding region
ENSG00000236930	CpG island
CCR9	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2373091	1.00[AMR][1000 genomes]
rs35678722	1.00[AMR][1000 genomes]
rs58248472	1.00[AMR][1000 genomes]
rs59463879	1.00[AMR][1000 genomes]
rs59551829	1.00[AMR][1000 genomes]
rs60514862	1.00[AMR][1000 genomes]
rs60663814	1.00[AMR][1000 genomes]
rs61630411	1.00[AMR][1000 genomes]
rs6798465	1.00[AMR][1000 genomes]
rs6806198	1.00[AMR][1000 genomes]
rs72884920	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7619090	1.00[AMR][1000 genomes]
rs7631934	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45923200-45928000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr3:45923400-45930000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:45923400-45932000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr3:45923400-45948200	Weak transcription	Right Atrium	heart
5	chr3:45923600-45930200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:45925200-45949600	Weak transcription	Pancreas	Pancrea
7	chr3:45925600-45947800	Genic enhancers	Dnd41	blood
8	chr3:45926600-45932600	Enhancers	GM12878-XiMat	blood
9	chr3:45926800-45928000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:45927000-45927800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:45927200-45927600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:45927200-45927800	Flanking Active TSS	Thymus	Thymus
13	chr3:45927200-45928000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:45927400-45928200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:45927400-45928200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:45927400-45928200	Enhancers	Primary T cells from cord blood	blood
17	chr3:45927400-45928400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr3:45927400-45928600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus

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