Variant report

Variant	rs2120274
Chromosome Location	chr17:19517768-19517769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11656199	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11656773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871420	0.90[EUR][1000 genomes]
rs12150145	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12941194	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684040	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2108971	0.85[CEU][hapmap];0.90[GIH][hapmap];0.80[LWK][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2165895	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245639	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2386143	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2386145	0.85[CEU][hapmap];0.90[GIH][hapmap];0.80[LWK][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2440162	0.92[CEU][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453586	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453600	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453601	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453604	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453608	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28495827	0.89[EUR][1000 genomes]
rs3760489	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4273101	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4925036	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56109259	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62065943	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62065946	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587200	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6587201	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210433	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215	0.92[CEU][hapmap];0.83[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7216	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7405861	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7405862	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7502992	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069478	0.81[EUR][1000 genomes]
rs8069576	0.85[CEU][hapmap];0.90[GIH][hapmap];0.80[LWK][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8074500	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074784	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8079648	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8081130	0.81[MEX][hapmap]
rs962800	0.85[CEU][hapmap];0.89[GIH][hapmap];0.83[LWK][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9889632	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9903027	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1056125	chr17:19484803-19536116	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1059195	chr17:19484803-19547972	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv2757654	chr17:19485735-19563766	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	esv2758679	chr17:19485735-19563766	Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv437815	chr17:19488851-19545834	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv437816	chr17:19488851-19545834	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1058163	chr17:19492744-19536116	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv817755	chr17:19494178-19517768	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3693233	chr17:19494178-19537470	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv574575	chr17:19494756-19534434	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1061056	chr17:19494805-19534994	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1056780	chr17:19494805-19537470	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv1055871	chr17:19494805-19538435	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv2760461	chr17:19494817-19538758	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv1056466	chr17:19494855-19537470	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv1059269	chr17:19494855-19538435	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv1065184	chr17:19494907-19524739	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv1060819	chr17:19494907-19538746	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv574576	chr17:19495478-19534434	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv870221	chr17:19497302-19546080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv1055165	chr17:19497569-19527596	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv1065379	chr17:19497890-19524335	Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
26	nsv1060623	chr17:19497890-19524739	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv1059515	chr17:19497890-19537470	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv1065299	chr17:19497890-19538435	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
29	nsv1060185	chr17:19497890-19538746	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
30	esv2762555	chr17:19497890-19538758	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
31	nsv1061339	chr17:19497890-19543162	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	esv3315172	chr17:19498590-19538709	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
33	esv3315173	chr17:19498590-19538709	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
34	nsv1057789	chr17:19499724-19524237	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
35	nsv1065681	chr17:19499724-19524721	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
36	nsv1057652	chr17:19499724-19524739	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
37	nsv1064221	chr17:19499724-19534994	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
38	nsv1062843	chr17:19499724-19537470	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
39	nsv1058837	chr17:19499724-19538435	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
40	nsv1056213	chr17:19499724-19538746	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
41	nsv1058288	chr17:19499724-19543162	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
42	nsv1059856	chr17:19499724-19543186	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
43	nsv1062609	chr17:19499724-19543361	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
44	nsv1064603	chr17:19499724-19544138	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
45	nsv1064042	chr17:19499724-19544277	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
46	esv2421703	chr17:19499736-19538447	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
47	nsv442739	chr17:19499736-19538447	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
48	nsv514829	chr17:19500192-19537612	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
49	nsv960075	chr17:19501811-19517783	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
50	nsv1063316	chr17:19501943-19524739	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2120274	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19499800-19519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:19515000-19518200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr17:19516400-19517800	Enhancers	Rectal Smooth Muscle	rectum
4	chr17:19517200-19517800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:19517200-19517800	Enhancers	Ovary	ovary
6	chr17:19517200-19520800	Weak transcription	Liver	Liver
7	chr17:19517400-19517800	Enhancers	Colon Smooth Muscle	Colon

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