Variant report

Variant	rs3095168
Chromosome Location	chr17:16260198-16260199
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: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	chr17:16260166-16260216	MCF-7	breast:	n/a
2	chr17:16260166-16260216	NH-A	brain:	n/a
3	chr17:16260166-16260216	RPTEC	kidney:	n/a
4	chr17:16260166-16260216	BJ	skin:	n/a
5	chr17:16260166-16260216	ovcar-3	ovarian:	n/a
6	chr17:16260166-16260216	HRCEpiC	kidney:	n/a
7	chr17:16260166-16260216	HCPEpiC	choroid plexus:	n/a
8	chr17:16260166-16260216	LNCaP	prostate:	n/a
9	chr17:16260166-16260216	HNPCEpiC	eye:	n/a
10	chr17:16260166-16260216	PFSK-1	brain:	n/a
11	chr17:16260166-16260216	Hepatocyte	liver:	n/a
12	chr17:16260166-16260216	Caco-2	colon:	n/a
13	chr17:16260166-16260216	A549	lung:	n/a
14	chr17:16260166-16260216	SKMC	muscle:	n/a
15	chr17:16260166-16260216	Jurkat	blood:	n/a
16	chr17:16260166-16260216	GM12891	blood:	n/a
17	chr17:16260166-16260216	HIPEpiC	eye:	n/a
18	chr17:16260166-16260216	NB4	blood:	n/a
19	chr17:16260166-16260216	SAEC	small airway:	n/a
20	chr17:16260166-16260216	CMK	blood:	n/a
21	chr17:16260166-16260216	PANC-1	pancreas:	n/a
22	chr17:16260166-16260216	NHBE	bronchial:	n/a
23	chr17:16260166-16260216	GM19239	blood:	n/a
24	chr17:16260166-16260216	AoSMC	blood vessel:	n/a
25	chr17:16260166-16260216	MCF10A-Er-Src	breast:	n/a
26	chr17:16260166-16260216	H1-hESC	embryonic stem cell:	embryo
27	chr17:16260166-16260216	AG04450	lung:	fetal
28	chr17:16260166-16260216	HPAEpiC	pulmonary alveolar:	n/a
29	chr17:16260166-16260216	NT2-D1	testis:	n/a
30	chr17:16260166-16260216	ECC-1	luminal epithelium:	n/a
31	chr17:16260166-16260216	BE2_C	brain:	n/a
32	chr17:16260166-16260216	AG09309	skin:	n/a
33	chr17:16260166-16260216	SK-N-SH_RA	brain:	n/a
34	chr17:16260166-16260216	IMR90	lung:	fetal
35	chr17:16260166-16260216	GM12878	blood:	n/a
36	chr17:16260166-16260216	HEEpiC	esophagus:	n/a
37	chr17:16260166-16260216	GM06990	blood:	n/a
38	chr17:16260166-16260216	HEK293	kidney:	embryo
39	chr17:16260166-16260216	K562	blood:	n/a
40	chr17:16260166-16260216	HCM	heart:	n/a
41	chr17:16260166-16260216	PrEC	prostate:	n/a
42	chr17:16260166-16260216	SK-N-MC	brain:	n/a
43	chr17:16260166-16260216	HCF	heart:	n/a
44	chr17:16260166-16260216	HAEpiC	amniotic membrane:	n/a
45	chr17:16260166-16260216	HUVEC	blood vessel:	n/a
46	chr17:16260166-16260216	AG04449	skin:	fetal
47	chr17:16260166-16260216	GM12892	blood:	n/a
48	chr17:16260166-16260216	Hela-S3	cervix:	n/a
49	chr17:16260166-16260216	T-47D	breast:	n/a
50	chr17:16260166-16260216	AG10803	skin:	n/a

No data

Variant related genes	Relation type
CENPV	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1987020	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2013857	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2286666	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs3095172	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095173	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3112512	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3112515	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3112528	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs59319728	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59794593	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7209531	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7212546	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7213083	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7213799	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7223745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8075688	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9907071	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9908067	1.00[CEU][hapmap]
rs9914804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9944417	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv962266	chr17:16245920-16260306	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv827903	chr17:16251979-16283760	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16257200-16261800	Weak transcription	Stomach Mucosa	stomach
2	chr17:16257200-16283800	Weak transcription	Right Atrium	heart
3	chr17:16258600-16267000	Weak transcription	Fetal Intestine Small	intestine

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