Variant report

Variant	rs12025930
Chromosome Location	chr1:79448723-79448724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12030790	0.80[EUR][1000 genomes]
rs12564245	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12569007	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12754818	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12757780	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1387423	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1387424	0.81[ASN][1000 genomes]
rs1489396	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17102414	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17102417	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17102419	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2130198	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2130199	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2352517	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2352613	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4147223	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4291458	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5028698	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61770681	0.84[EUR][1000 genomes]
rs6424616	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6424620	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6658041	0.82[ASN][1000 genomes]
rs6672367	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6673093	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6680978	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7365823	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7517878	0.82[EUR][1000 genomes]
rs7520062	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7521402	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7521811	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7528171	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7530519	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7538173	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7538347	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7541556	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7550616	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7553344	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs977912	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs977914	0.82[ASN][1000 genomes]
rs985277	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2830430	chr1:79310760-79555593	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1010441	chr1:79320299-79555315	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1001894	chr1:79351364-79542576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv535014	chr1:79351364-79542576	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv871089	chr1:79353655-79471959	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv462117	chr1:79358827-79458347	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv546621	chr1:79358827-79458347	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv546623	chr1:79374579-79509109	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv871564	chr1:79382009-79471959	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv546627	chr1:79403335-79454383	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv546628	chr1:79403335-79458347	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv871525	chr1:79403335-79518810	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv871613	chr1:79407980-79471959	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv871276	chr1:79407980-79520554	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv470720	chr1:79411764-79491206	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv870769	chr1:79420491-79491206	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv871645	chr1:79431407-79501129	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79447800-79448800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:79448600-79448800	Enhancers	HUVEC	blood vessel

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