Variant report

Variant	rs10749708
Chromosome Location	chr1:57114007-57114008
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:57113983-57114033	Caco-2	colon:	n/a
2	chr1:57113983-57114033	SK-N-MC	brain:	n/a
3	chr1:57113983-57114033	ProgFib	skin:	n/a
4	chr1:57113983-57114033	K562	blood:	n/a
5	chr1:57113983-57114033	HCT-116	colon:	n/a
6	chr1:57113983-57114033	ovcar-3	ovarian:	n/a
7	chr1:57113983-57114033	HCF	heart:	n/a
8	chr1:57113983-57114033	MCF10A-Er-Src	breast:	n/a
9	chr1:57113983-57114033	A549	lung:	n/a
10	chr1:57113983-57114033	Hepatocyte	liver:	n/a
11	chr1:57113983-57114033	H1-hESC	embryonic stem cell:	embryo
12	chr1:57113983-57114033	HEK293	kidney:	embryo
13	chr1:57113983-57114033	GM12891	blood:	n/a
14	chr1:57113983-57114033	HNPCEpiC	eye:	n/a
15	chr1:57113983-57114033	AoSMC	blood vessel:	n/a
16	chr1:57113983-57114033	HCM	heart:	n/a
17	chr1:57113983-57114033	CMK	blood:	n/a
18	chr1:57113983-57114033	AG04449	skin:	fetal
19	chr1:57113983-57114033	IMR90	lung:	fetal
20	chr1:57113983-57114033	MCF-7	breast:	n/a
21	chr1:57113983-57114033	HEEpiC	esophagus:	n/a
22	chr1:57113983-57114033	U87	brain:	n/a
23	chr1:57113983-57114033	SK-N-SH	brain:	n/a
24	chr1:57113983-57114033	T-47D	breast:	n/a
25	chr1:57113983-57114033	AG04450	lung:	fetal
26	chr1:57113983-57114033	HIPEpiC	eye:	n/a
27	chr1:57113983-57114033	BE2_C	brain:	n/a
28	chr1:57113983-57114033	HepG2	liver:	n/a
29	chr1:57113983-57114033	HUVEC	blood vessel:	n/a
30	chr1:57113983-57114033	HRE	kidney:	n/a
31	chr1:57113983-57114033	NB4	blood:	n/a
32	chr1:57113983-57114033	SK-N-SH_RA	brain:	n/a
33	chr1:57113983-57114033	NH-A	brain:	n/a
34	chr1:57113983-57114033	HL-60	blood:	n/a
35	chr1:57113983-57114033	NHBE	bronchial:	n/a
36	chr1:57113983-57114033	GM19239	blood:	n/a
37	chr1:57113983-57114033	AG09319	gingival:	n/a
38	chr1:57113983-57114033	RPTEC	kidney:	n/a
39	chr1:57113983-57114033	HRPEpiC	eye:	n/a
40	chr1:57113983-57114033	NT2-D1	testis:	n/a
41	chr1:57113983-57114033	HMEC	breast:	n/a
42	chr1:57113983-57114033	AG09309	skin:	n/a
43	chr1:57113983-57114033	LNCaP	prostate:	n/a
44	chr1:57113983-57114033	GM12878	blood:	n/a
45	chr1:57113983-57114033	AG10803	skin:	n/a
46	chr1:57113983-57114033	HAEpiC	amniotic membrane:	n/a
47	chr1:57113983-57114033	BJ	skin:	n/a
48	chr1:57113983-57114033	GM06990	blood:	n/a
49	chr1:57113983-57114033	NHDF-neo	bronchial:	n/a
50	chr1:57113983-57114033	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
PPAP2B	CpG island

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10789036	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10789038	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789040	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789041	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10889006	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889008	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889009	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11206884	0.90[ASN][1000 genomes]
rs11206885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206886	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11206888	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206889	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206890	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11206895	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1124900	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11589368	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11804779	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12021768	0.90[ASN][1000 genomes]
rs12021851	0.90[ASN][1000 genomes]
rs12023668	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12032999	0.88[ASN][1000 genomes]
rs12048572	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12072057	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12073311	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12078260	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12092267	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12097148	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12738355	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13374924	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1418442	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1986660	0.90[ASN][1000 genomes]
rs2245475	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2404718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404992	0.90[ASN][1000 genomes]
rs2404993	0.90[ASN][1000 genomes]
rs2404994	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2746345	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2746348	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2746349	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2746353	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2796517	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2796519	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2796523	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2796527	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4548471	0.90[ASN][1000 genomes]
rs4551620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562656	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4584419	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59223968	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772962	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61774287	0.90[ASN][1000 genomes]
rs6588641	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588643	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6683935	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72666470	0.86[ASN][1000 genomes]
rs7419053	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7515414	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7519509	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7533440	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7545066	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7546264	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7547486	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932447	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9887834	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9887940	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57109800-57114600	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr1:57112000-57117400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:57112000-57119800	Weak transcription	HUVEC	blood vessel
4	chr1:57112600-57115000	Weak transcription	Left Ventricle	heart
5	chr1:57112600-57121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:57112600-57121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:57113000-57122000	Weak transcription	Fetal Kidney	kidney
8	chr1:57113200-57115000	Weak transcription	Fetal Heart	heart
9	chr1:57113400-57114600	Enhancers	HepG2	liver

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