Variant report

Variant	rs16990066
Chromosome Location	chr22:32651563-32651564
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	chr22:32651562-32651612	Hepatocyte	liver:	n/a
2	chr22:32651562-32651612	HEK293	kidney:	embryo
3	chr22:32651562-32651612	LNCaP	prostate:	n/a
4	chr22:32651562-32651612	U87	brain:	n/a
5	chr22:32651562-32651612	ovcar-3	ovarian:	n/a
6	chr22:32651562-32651612	HUVEC	blood vessel:	n/a
7	chr22:32651562-32651612	SK-N-MC	brain:	n/a
8	chr22:32651562-32651612	BJ	skin:	n/a
9	chr22:32651562-32651612	GM12892	blood:	n/a
10	chr22:32651562-32651612	PANC-1	pancreas:	n/a
11	chr22:32651562-32651612	GM06990	blood:	n/a
12	chr22:32651562-32651612	HRPEpiC	eye:	n/a
13	chr22:32651562-32651612	BE2_C	brain:	n/a
14	chr22:32651562-32651612	NB4	blood:	n/a
15	chr22:32651562-32651612	HCM	heart:	n/a
16	chr22:32651562-32651612	HepG2	liver:	n/a
17	chr22:32651562-32651612	HCF	heart:	n/a
18	chr22:32651562-32651612	T-47D	breast:	n/a
19	chr22:32651562-32651612	Jurkat	blood:	n/a
20	chr22:32651562-32651612	SKMC	muscle:	n/a
21	chr22:32651562-32651612	NH-A	brain:	n/a
22	chr22:32651562-32651612	SAEC	small airway:	n/a
23	chr22:32651562-32651612	HRE	kidney:	n/a
24	chr22:32651562-32651612	HIPEpiC	eye:	n/a
25	chr22:32651562-32651612	HMEC	breast:	n/a
26	chr22:32651562-32651612	GM19239	blood:	n/a
27	chr22:32651562-32651612	A549	lung:	n/a
28	chr22:32651562-32651612	HCPEpiC	choroid plexus:	n/a
29	chr22:32651562-32651612	PrEC	prostate:	n/a
30	chr22:32651562-32651612	NT2-D1	testis:	n/a
31	chr22:32651562-32651612	MCF10A-Er-Src	breast:	n/a
32	chr22:32651562-32651612	SK-N-SH	brain:	n/a
33	chr22:32651562-32651612	Hela-S3	cervix:	n/a
34	chr22:32651562-32651612	CMK	blood:	n/a
35	chr22:32651562-32651612	GM12891	blood:	n/a
36	chr22:32651562-32651612	HRCEpiC	kidney:	n/a
37	chr22:32651562-32651612	IMR90	lung:	fetal
38	chr22:32651562-32651612	MCF-7	breast:	n/a
39	chr22:32651562-32651612	H1-hESC	embryonic stem cell:	embryo
40	chr22:32651562-32651612	SK-N-SH_RA	brain:	n/a
41	chr22:32651562-32651612	AG09309	skin:	n/a
42	chr22:32651562-32651612	AG04450	lung:	fetal
43	chr22:32651562-32651612	HNPCEpiC	eye:	n/a
44	chr22:32651562-32651612	NHDF-neo	bronchial:	n/a
45	chr22:32651562-32651612	HCT-116	colon:	n/a
46	chr22:32651562-32651612	NHBE	bronchial:	n/a
47	chr22:32651562-32651612	ProgFib	skin:	n/a
48	chr22:32651562-32651612	AoSMC	blood vessel:	n/a
49	chr22:32651562-32651612	K562	blood:	n/a
50	chr22:32651562-32651612	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
SLC5A4	CpG island

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12157791	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160790	1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16990065	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179064	0.81[EUR][1000 genomes]
rs2179066	1.00[JPT][hapmap]
rs2235168	1.00[JPT][hapmap]
rs2235170	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2235171	0.89[JPT][hapmap];0.83[LWK][hapmap];0.95[ASN][1000 genomes]
rs2294205	1.00[JPT][hapmap]
rs2294206	1.00[JPT][hapmap]
rs2294207	1.00[JPT][hapmap]
rs2294211	0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs2413090	0.91[ASN][1000 genomes]
rs5994491	1.00[JPT][hapmap]
rs5994496	1.00[JPT][hapmap]
rs5994502	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs5994503	1.00[JPT][hapmap]
rs5994509	0.94[EUR][1000 genomes]
rs5994510	1.00[EUR][1000 genomes]
rs5994511	1.00[JPT][hapmap]
rs5994512	1.00[JPT][hapmap]
rs5994515	0.88[ASW][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs5998300	1.00[JPT][hapmap]
rs5998317	0.89[JPT][hapmap]
rs5998318	0.86[JPT][hapmap]
rs5998321	1.00[JPT][hapmap]
rs5998326	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs5998329	1.00[JPT][hapmap]
rs5998334	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998339	0.93[YRI][hapmap]
rs5998341	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998342	1.00[AMR][1000 genomes]
rs5998346	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998349	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs5998350	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998351	0.88[ASW][hapmap];1.00[MEX][hapmap]
rs7287176	1.00[EUR][1000 genomes]
rs7287853	1.00[JPT][hapmap]
rs8137034	1.00[JPT][hapmap]

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	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32650800-32652000	Enhancers	Fetal Intestine Small	intestine
2	chr22:32651000-32652000	Enhancers	Fetal Intestine Large	intestine
3	chr22:32651400-32651600	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr22:32651400-32652000	Enhancers	Duodenum Mucosa	Duodenum

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