Variant report

Variant	rs9889868
Chromosome Location	chr17:16522443-16522444
allele	A/G
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:3)
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	chr17:16522406-16522456	HCPEpiC	choroid plexus:	n/a
2	chr17:16522406-16522456	PrEC	prostate:	n/a
3	chr17:16522406-16522456	HUVEC	blood vessel:	n/a
4	chr17:16522406-16522456	CMK	blood:	n/a
5	chr17:16522406-16522456	HRCEpiC	kidney:	n/a
6	chr17:16522406-16522456	PFSK-1	brain:	n/a
7	chr17:16522406-16522456	AoSMC	blood vessel:	n/a
8	chr17:16522406-16522456	GM19239	blood:	n/a
9	chr17:16522406-16522456	NB4	blood:	n/a
10	chr17:16522406-16522456	HPAEpiC	pulmonary alveolar:	n/a
11	chr17:16522406-16522456	AG09309	skin:	n/a
12	chr17:16522406-16522456	SK-N-MC	brain:	n/a
13	chr17:16522406-16522456	GM12878	blood:	n/a
14	chr17:16522406-16522456	HL-60	blood:	n/a
15	chr17:16522406-16522456	SKMC	muscle:	n/a
16	chr17:16522406-16522456	A549	lung:	n/a
17	chr17:16522406-16522456	HCF	heart:	n/a
18	chr17:16522406-16522456	HNPCEpiC	eye:	n/a
19	chr17:16522406-16522456	PANC-1	pancreas:	n/a
20	chr17:16522406-16522456	LNCaP	prostate:	n/a
21	chr17:16522406-16522456	HCM	heart:	n/a
22	chr17:16522406-16522456	HAEpiC	amniotic membrane:	n/a
23	chr17:16522406-16522456	GM12891	blood:	n/a
24	chr17:16522406-16522456	HRPEpiC	eye:	n/a
25	chr17:16522406-16522456	T-47D	breast:	n/a
26	chr17:16522406-16522456	SK-N-SH_RA	brain:	n/a
27	chr17:16522406-16522456	HEK293	kidney:	embryo
28	chr17:16522406-16522456	HMEC	breast:	n/a
29	chr17:16522406-16522456	HRE	kidney:	n/a
30	chr17:16522406-16522456	NT2-D1	testis:	n/a
31	chr17:16522406-16522456	SAEC	small airway:	n/a
32	chr17:16522406-16522456	H1-hESC	embryonic stem cell:	embryo
33	chr17:16522406-16522456	BJ	skin:	n/a
34	chr17:16522406-16522456	Caco-2	colon:	n/a
35	chr17:16522406-16522456	NH-A	brain:	n/a
36	chr17:16522406-16522456	AG10803	skin:	n/a
37	chr17:16522406-16522456	ProgFib	skin:	n/a
38	chr17:16522406-16522456	K562	blood:	n/a
39	chr17:16522406-16522456	HIPEpiC	eye:	n/a
40	chr17:16522406-16522456	IMR90	lung:	fetal
41	chr17:16522406-16522456	GM12892	blood:	n/a
42	chr17:16522406-16522456	AG09319	gingival:	n/a
43	chr17:16522406-16522456	NHDF-neo	bronchial:	n/a
44	chr17:16522406-16522456	RPTEC	kidney:	n/a
45	chr17:16522406-16522456	AG04450	lung:	fetal
46	chr17:16522406-16522456	GM06990	blood:	n/a
47	chr17:16522406-16522456	AG04449	skin:	fetal
48	chr17:16522406-16522456	HCT-116	colon:	n/a
49	chr17:16522406-16522456	MCF10A-Er-Src	breast:	n/a
50	chr17:16522406-16522456	Hela-S3	cervix:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16515674..16517653-chr17:16522014..16523828,2	K562	blood:
2	chr17:16515728..16519823-chr17:16521638..16525880,5	MCF-7	breast:
3	chr17:16521358..16523436-chr17:16528950..16531886,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235554	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11871369	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239135	0.85[AFR][1000 genomes]
rs4791675	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791679	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6502515	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7212915	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7226328	0.89[ASW][hapmap];0.91[LWK][hapmap];0.87[AFR][1000 genomes]
rs8065506	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072900	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080698	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9902518	0.84[EUR][1000 genomes]
rs9903721	0.85[EUR][1000 genomes]
rs9904209	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907721	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9908721	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9911269	0.89[ASN][1000 genomes]
rs9911518	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9911677	0.87[AFR][1000 genomes]
rs9916706	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916819	0.89[AFR][1000 genomes]

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	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9889868	MPRIP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16519800-16540000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:16520600-16533400	ZNF genes & repeats	Liver	Liver
3	chr17:16521200-16534200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr17:16522000-16540000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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