Variant report

Variant	rs590222
Chromosome Location	chr1:71444089-71444090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
2	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:
3	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1022527	0.84[ASN][1000 genomes]
rs1022529	0.84[ASN][1000 genomes]
rs10399632	0.86[ASN][1000 genomes]
rs10399704	0.81[ASN][1000 genomes]
rs10399705	0.81[ASN][1000 genomes]
rs10399706	0.81[ASN][1000 genomes]
rs10399797	0.81[ASN][1000 genomes]
rs10399806	0.86[ASN][1000 genomes]
rs10749799	0.86[ASN][1000 genomes]
rs10789315	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10789316	0.86[ASN][1000 genomes]
rs11209731	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11209733	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11209736	0.81[ASN][1000 genomes]
rs12120041	0.86[ASN][1000 genomes]
rs12130153	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12134962	0.85[ASN][1000 genomes]
rs12139719	0.81[ASN][1000 genomes]
rs12139935	0.81[ASN][1000 genomes]
rs12739047	0.81[ASN][1000 genomes]
rs12756951	0.81[ASN][1000 genomes]
rs12757161	0.81[ASN][1000 genomes]
rs1983588	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2143157	0.85[ASN][1000 genomes]
rs2179412	0.84[ASN][1000 genomes]
rs2206345	0.86[ASN][1000 genomes]
rs2206346	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2223502	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2268054	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2268055	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2268056	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2268058	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2268059	0.86[ASN][1000 genomes]
rs2268060	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2268061	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2268062	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2300166	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300167	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300169	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2300170	0.86[ASN][1000 genomes]
rs2300171	0.86[ASN][1000 genomes]
rs2300173	0.86[ASN][1000 genomes]
rs2300175	0.86[ASN][1000 genomes]
rs2300178	0.80[ASN][1000 genomes]
rs2901523	0.85[ASN][1000 genomes]
rs33936437	0.85[ASN][1000 genomes]
rs3765892	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3765894	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4361943	0.86[ASN][1000 genomes]
rs4425937	0.86[ASN][1000 genomes]
rs4437828	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4439319	0.86[ASN][1000 genomes]
rs4511057	0.86[ASN][1000 genomes]
rs4549988	0.86[ASN][1000 genomes]
rs5682	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs597678	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs622721	0.85[EUR][1000 genomes]
rs6679370	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6679976	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs688618	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8179390	0.80[ASN][1000 genomes]
rs8179408	0.80[ASN][1000 genomes]
rs997997	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv461840	chr1:71364105-71468493	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv546471	chr1:71364105-71468493	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1002663	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv534987	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv871313	chr1:71391646-71489438	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1007153	chr1:71414296-71458961	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1002842	chr1:71415135-71458961	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2762149	chr1:71415135-71458973	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1003555	chr1:71415135-71471875	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1006266	chr1:71417173-71458143	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv997350	chr1:71417173-71458961	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1003919	chr1:71417926-71465647	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv534988	chr1:71417926-71465647	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1008902	chr1:71417926-71488139	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv534989	chr1:71417926-71488139	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1004195	chr1:71417927-71465648	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv534990	chr1:71417927-71465648	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv997503	chr1:71418126-71465508	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv534991	chr1:71418126-71465508	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv516212	chr1:71421564-71468493	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv871222	chr1:71427842-71473791	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
25	nsv871141	chr1:71440217-71453552	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv461851	chr1:71442626-71507541	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
27	nsv546473	chr1:71442626-71507541	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs590222	PTGER3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71430200-71444200	Weak transcription	Adipose Nuclei	Adipose
2	chr1:71441600-71444800	Enhancers	Fetal Brain Male	brain
3	chr1:71443200-71456800	Weak transcription	Gastric	stomach
4	chr1:71443600-71446000	Weak transcription	Pancreas	Pancrea
5	chr1:71444000-71444600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:71444000-71445600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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