Variant report

Variant	rs28383087
Chromosome Location	chr2:31749910-31749911
allele	A/C
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:0)
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	FOXA1	chr2:31749703-31750047	T-47D	breast:	n/a	n/a
2	FOXA1	chr2:31749703-31749937	T-47D	breast:	n/a	n/a
3	CTCF	chr2:31749820-31749970	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr2:31749860-31750010	AG10803	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:31749899-31749949	HCT-116	colon:	n/a
2	chr2:31749899-31749949	GM06990	blood:	n/a
3	chr2:31749899-31749949	ovcar-3	ovarian:	n/a
4	chr2:31749899-31749949	GM19239	blood:	n/a
5	chr2:31749899-31749949	HRPEpiC	eye:	n/a
6	chr2:31749899-31749949	GM12878	blood:	n/a
7	chr2:31749899-31749949	PFSK-1	brain:	n/a
8	chr2:31749899-31749949	SAEC	small airway:	n/a
9	chr2:31749899-31749949	BE2_C	brain:	n/a
10	chr2:31749899-31749949	IMR90	lung:	fetal
11	chr2:31749899-31749949	HMEC	breast:	n/a
12	chr2:31749899-31749949	SK-N-MC	brain:	n/a
13	chr2:31749899-31749949	HL-60	blood:	n/a
14	chr2:31749899-31749949	PANC-1	pancreas:	n/a
15	chr2:31749899-31749949	Hepatocyte	liver:	n/a
16	chr2:31749899-31749949	H1-hESC	embryonic stem cell:	embryo
17	chr2:31749899-31749949	HCPEpiC	choroid plexus:	n/a
18	chr2:31749899-31749949	A549	lung:	n/a
19	chr2:31749899-31749949	BJ	skin:	n/a
20	chr2:31749899-31749949	HUVEC	blood vessel:	n/a
21	chr2:31749899-31749949	Caco-2	colon:	n/a
22	chr2:31749899-31749949	MCF10A-Er-Src	breast:	n/a
23	chr2:31749899-31749949	HAEpiC	amniotic membrane:	n/a
24	chr2:31749899-31749949	AG09309	skin:	n/a
25	chr2:31749899-31749949	NH-A	brain:	n/a
26	chr2:31749899-31749949	CMK	blood:	n/a
27	chr2:31749899-31749949	Hela-S3	cervix:	n/a
28	chr2:31749899-31749949	AG04449	skin:	fetal
29	chr2:31749899-31749949	Jurkat	blood:	n/a
30	chr2:31749899-31749949	HRE	kidney:	n/a
31	chr2:31749899-31749949	LNCaP	prostate:	n/a
32	chr2:31749899-31749949	GM12891	blood:	n/a
33	chr2:31749899-31749949	NB4	blood:	n/a
34	chr2:31749899-31749949	HepG2	liver:	n/a
35	chr2:31749899-31749949	SKMC	muscle:	n/a
36	chr2:31749899-31749949	NT2-D1	testis:	n/a
37	chr2:31749899-31749949	HEEpiC	esophagus:	n/a
38	chr2:31749899-31749949	HRCEpiC	kidney:	n/a
39	chr2:31749899-31749949	GM12892	blood:	n/a
40	chr2:31749899-31749949	RPTEC	kidney:	n/a
41	chr2:31749899-31749949	SK-N-SH_RA	brain:	n/a
42	chr2:31749899-31749949	AoSMC	blood vessel:	n/a
43	chr2:31749899-31749949	K562	blood:	n/a
44	chr2:31749899-31749949	PrEC	prostate:	n/a
45	chr2:31749899-31749949	MCF-7	breast:	n/a
46	chr2:31749899-31749949	ECC-1	luminal epithelium:	n/a
47	chr2:31749899-31749949	AG10803	skin:	n/a
48	chr2:31749899-31749949	HCF	heart:	n/a
49	chr2:31749899-31749949	SK-N-SH	brain:	n/a
50	chr2:31749899-31749949	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
ENSG00000228563	TF binding region
ENSG00000228563	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11674948	0.82[EUR][1000 genomes]
rs11675609	0.92[EUR][1000 genomes]
rs11678277	0.82[EUR][1000 genomes]
rs11678319	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11678415	0.82[EUR][1000 genomes]
rs11680402	0.82[EUR][1000 genomes]
rs11681398	0.82[EUR][1000 genomes]
rs11685229	0.82[EUR][1000 genomes]
rs11695020	0.82[EUR][1000 genomes]
rs28383069	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28383082	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34269447	1.00[EUR][1000 genomes]
rs34615314	0.82[EUR][1000 genomes]
rs58067858	1.00[EUR][1000 genomes]
rs7424544	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1013891	chr2:31629179-31854283	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv535612	chr2:31629179-31854283	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv999815	chr2:31654667-31777296	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31748200-31750400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:31748800-31750600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:31749200-31750200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:31749600-31759600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:31749800-31750600	Enhancers	Liver	Liver

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