Variant report

Variant	rs2024254
Chromosome Location	chr7:78814410-78814411
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10224247	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10245876	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10255742	0.82[JPT][hapmap];0.81[MEX][hapmap]
rs10953783	0.85[CEU][hapmap];0.86[GIH][hapmap]
rs10953786	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11760355	0.82[CEU][hapmap]
rs12112164	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12534678	0.85[AMR][1000 genomes]
rs12668450	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs12669524	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12706039	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13222070	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13222189	0.81[AMR][1000 genomes]
rs13222396	0.81[AMR][1000 genomes]
rs13225710	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13239380	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1468660	0.94[CEU][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes]
rs1990432	0.84[CEU][hapmap];0.81[GIH][hapmap]
rs1990433	0.94[CEU][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap]
rs2024253	0.86[EUR][1000 genomes]
rs2191808	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2191811	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2215584	0.81[AMR][1000 genomes]
rs34707261	0.81[AMR][1000 genomes]
rs4020771	0.81[GIH][hapmap]
rs4573181	0.85[CEU][hapmap];0.84[GIH][hapmap]
rs4730678	0.88[CEU][hapmap];0.87[JPT][hapmap]
rs4730680	0.88[CEU][hapmap];0.87[JPT][hapmap]
rs4730688	0.94[CEU][hapmap];0.87[JPT][hapmap]
rs6466519	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6466533	0.85[CEU][hapmap];0.87[GIH][hapmap]
rs6466535	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap]
rs6466537	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6950691	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6957950	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6967793	0.84[CEU][hapmap]
rs6971099	0.82[GIH][hapmap]
rs7787597	0.80[GIH][hapmap]
rs7789660	0.94[CEU][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.81[AMR][1000 genomes]
rs7790650	0.89[CEU][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap]
rs7791658	0.85[CEU][hapmap]
rs7793860	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7794136	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7795498	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7801546	0.81[AMR][1000 genomes]
rs7802991	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7803630	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs983050	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs983846	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831040	chr7:78623195-78831998	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv888510	chr7:78742376-78865618	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1033988	chr7:78778675-78851897	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv5806	chr7:78780156-78855716	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv888511	chr7:78784444-78851126	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv437551	chr7:78796910-78856704	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv2757230	chr7:78801388-78887925	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv2759539	chr7:78801388-78887925	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1027497	chr7:78801756-78856071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1020756	chr7:78801874-78852681	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv437553	chr7:78801909-78827136	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv3692933	chr7:78801909-78851126	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv437552	chr7:78801909-78856704	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv437554	chr7:78801909-78856704	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv3476254	chr7:78803771-78854188	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	esv3476256	chr7:78803798-78854185	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	esv3476253	chr7:78803801-78854149	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	esv3476255	chr7:78803808-78854095	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	nsv8168	chr7:78803845-78854514	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	nsv499658	chr7:78803912-78854063	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	esv3476257	chr7:78803915-78854065	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
25	esv10934	chr7:78803960-78854070	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	nsv514427	chr7:78804424-78853656	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1015177	chr7:78805287-78852533	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
28	nsv1032979	chr7:78805287-78852681	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
29	nsv1029701	chr7:78805287-78856071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
30	nsv1032357	chr7:78805287-78856637	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
31	esv2421751	chr7:78805299-78852693	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
32	nsv442003	chr7:78805299-78852693	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
33	esv2761161	chr7:78805299-78857007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
34	nsv437988	chr7:78806100-78910974	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1028389	chr7:78807175-78851897	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
36	nsv538988	chr7:78807175-78851897	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
37	nsv1017352	chr7:78807175-78858690	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
38	nsv538989	chr7:78807175-78858690	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
39	nsv1028020	chr7:78807226-78852681	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
40	nsv1019480	chr7:78807226-78856071	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
41	nsv607661	chr7:78808378-78818348	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
42	nsv517007	chr7:78808378-78843289	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
43	nsv464599	chr7:78808378-78843289	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a
44	nsv470332	chr7:78808378-78843289	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a
45	nsv607662	chr7:78808378-78843289	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
46	nsv818525	chr7:78808378-78843289	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
47	nsv433238	chr7:78808378-78851126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	n/a
48	nsv1021266	chr7:78812235-78852681	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78805600-78814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:78814200-78814800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:78814200-78815400	Enhancers	HMEC	breast
4	chr7:78814200-78816000	Enhancers	NHEK	skin
5	chr7:78814400-78815800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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