Variant report

Variant	rs6762748
Chromosome Location	chr3:145643853-145643854
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11709175	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12638283	0.98[AFR][1000 genomes]
rs13074530	0.85[EUR][1000 genomes]
rs1398780	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513398	0.92[AFR][1000 genomes]
rs1708436	0.98[AFR][1000 genomes]
rs1849514	0.98[AFR][1000 genomes]
rs512600	0.98[AFR][1000 genomes]
rs6440400	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs669904	0.95[AFR][1000 genomes]
rs6808863	0.80[AFR][1000 genomes]
rs7620607	0.98[AFR][1000 genomes]
rs7620814	0.98[AFR][1000 genomes]
rs7639600	0.96[AFR][1000 genomes]
rs924690	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877584	chr3:144903957-145833232	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3379945	chr3:145351163-145679850	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv877610	chr3:145465395-145653627	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2751980	chr3:145473020-145758194	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1013475	chr3:145478985-145750509	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1010509	chr3:145478985-145757483	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1005624	chr3:145486437-145750509	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv999344	chr3:145506353-145750883	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv536757	chr3:145506353-145750883	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv33307	chr3:145506383-145667833	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv877611	chr3:145525989-145653627	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv877612	chr3:145542558-145653627	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv525829	chr3:145614317-145863779	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	esv2757015	chr3:145615852-145661771	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv2759186	chr3:145615852-145661771	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv437347	chr3:145620810-145665218	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv3692795	chr3:145623801-145662176	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv517206	chr3:145624626-145660362	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1001959	chr3:145625014-145662460	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv3462634	chr3:145626130-145662628	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1010260	chr3:145626162-145662460	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv3462633	chr3:145626179-145662566	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv3462635	chr3:145626179-145662566	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv17858	chr3:145626322-145662143	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv818172	chr3:145626368-145660362	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv1014187	chr3:145628903-145662154	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv1003059	chr3:145628903-145662460	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
28	esv2762348	chr3:145628903-145662472	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
29	nsv1012874	chr3:145631140-145662154	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
30	nsv1004210	chr3:145631140-145662460	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv1009264	chr3:145631740-145662460	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv1001140	chr3:145633190-145661939	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
33	esv1845396	chr3:145635631-145645958	Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
34	nsv998647	chr3:145642499-145660801	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv1015058	chr3:145642499-145661545	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
36	nsv508252	chr3:145643496-145655721	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
37	nsv511219	chr3:145643853-145645683	Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6762748	RP11-88H10.3	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145643400-145644200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:145643800-145644200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:145643800-145644200	Active TSS	Aorta	Aorta

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