Variant report

Variant	rs889213
Chromosome Location	chr5:90682151-90682152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:90682100-90682250	NHDF-neo	bronchial:	n/a	n/a
2	CTCF	chr5:90682140-90682290	AG10803	skin:	n/a	n/a
3	CTCF	chr5:90682060-90682210	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr5:90682080-90682230	BE2_C	brain:	n/a	n/a
5	CTCF	chr5:90682100-90682250	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr5:90682080-90682230	MCF-7	breast:	n/a	n/a
7	CTCF	chr5:90682100-90682250	RPTEC	kidney:	n/a	n/a
8	CTCF	chr5:90682080-90682230	AG09319	gingival:	n/a	n/a
9	CTCF	chr5:90682080-90682230	AG09309	skin:	n/a	n/a
10	CTCF	chr5:90682080-90682230	HRE	kidney:	n/a	n/a
11	CTCF	chr5:90682040-90682190	AG10803	skin:	n/a	n/a
12	CTCF	chr5:90682078-90682265	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr5:90682100-90682250	K562	blood:	n/a	n/a
14	CTCF	chr5:90682140-90682290	HCFaa	heart:	n/a	n/a
15	CTCF	chr5:90682140-90682290	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr5:90682120-90682270	AG09319	gingival:	n/a	n/a
17	CTCF	chr5:90682060-90682210	AG04449	skin:	n/a	n/a
18	CTCF	chr5:90682060-90682210	BJ	skin:	n/a	n/a
19	CTCF	chr5:90682020-90682170	AG04450	lung:	n/a	n/a
20	CTCF	chr5:90682120-90682270	HPF	lung:	n/a	n/a
21	CTCF	chr5:90682100-90682250	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr5:90682040-90682190	BJ	skin:	n/a	n/a
23	CTCF	chr5:90682080-90682230	HPF	lung:	n/a	n/a
24	CTCF	chr5:90682120-90682270	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr5:90682120-90682270	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr5:90682145-90682240	IMR90	lung:	n/a	n/a
27	CTCF	chr5:90682140-90682290	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr5:90682040-90682190	AG09309	skin:	n/a	n/a
29	CTCF	chr5:90682080-90682230	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr5:90682140-90682290	RPTEC	kidney:	n/a	n/a
31	CTCF	chr5:90682120-90682270	NHDF-neo	bronchial:	n/a	n/a
32	MAX	chr5:90682050-90682175	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr5:90682100-90682250	AG04449	skin:	n/a	n/a
34	CTCF	chr5:90682100-90682250	BE2_C	brain:	n/a	n/a
35	RAD21	chr5:90682040-90682226	IMR90	lung:	n/a	chr5:90682173-90682180
36	CTCF	chr5:90682120-90682270	HMF	breast:	n/a	n/a
37	CTCF	chr5:90682100-90682250	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr5:90682120-90682270	HRE	kidney:	n/a	n/a
39	CTCF	chr5:90682080-90682230	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr5:90682020-90682170	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
2	chr5:90607284..90611861-chr5:90674569..90683045,11	K562	blood:
3	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:
4	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
5	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:

No data

Variant related genes	Relation type
ARRDC3	TF binding region
ENSG00000251093	Chromatin interaction
ENSG00000248323	Chromatin interaction
ENSG00000271762	Chromatin interaction
ENSG00000212930	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10041402	0.94[EUR][1000 genomes]
rs10045280	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs10052492	0.89[EUR][1000 genomes]
rs10054820	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10058025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10059163	0.94[EUR][1000 genomes]
rs10063683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10073657	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10073935	0.94[EUR][1000 genomes]
rs1035476	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1035477	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10474352	0.90[CHB][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10474353	0.94[EUR][1000 genomes]
rs10942634	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11948056	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11948075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11955120	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11959525	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12110065	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12110303	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12188467	0.86[EUR][1000 genomes]
rs12651840	0.95[EUR][1000 genomes]
rs12654787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12655973	0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs12656350	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1363839	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477348	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1477349	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs186717	0.84[EUR][1000 genomes]
rs1895448	0.94[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs1895449	0.92[EUR][1000 genomes]
rs1964292	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1966494	0.92[EUR][1000 genomes]
rs2004483	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052553	0.95[EUR][1000 genomes]
rs2059207	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes]
rs2059208	0.88[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs2367353	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2367526	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2839728	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs2887007	0.90[EUR][1000 genomes]
rs332544	0.84[EUR][1000 genomes]
rs35712350	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4382199	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60513756	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6452951	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6452953	0.94[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.91[EUR][1000 genomes]
rs6452954	0.92[EUR][1000 genomes]
rs66759971	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6860948	0.97[EUR][1000 genomes]
rs6865495	0.93[EUR][1000 genomes]
rs6866191	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6866923	0.94[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6867091	0.92[EUR][1000 genomes]
rs6869048	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6869717	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6882269	0.93[EUR][1000 genomes]
rs746637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7715402	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7718871	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7720132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7720235	0.86[EUR][1000 genomes]
rs9293568	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9686361	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs985434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90680000-90682200	Weak transcription	Left Ventricle	heart
2	chr5:90680000-90692800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:90680800-90686000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:90680800-90688200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:90681800-90682200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:90681800-90682200	Enhancers	A549	lung
7	chr5:90681800-90682200	Enhancers	K562	blood
8	chr5:90681800-90682800	Enhancers	Osteobl	bone
9	chr5:90682000-90682200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:90682000-90682200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:90682000-90682200	Enhancers	Fetal Kidney	kidney
12	chr5:90682000-90682400	Enhancers	Fetal Heart	heart
13	chr5:90682000-90682600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:90682000-90682600	Enhancers	Cortex derived primary cultured neurospheres	brain

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