Variant report

Variant	rs113424475
Chromosome Location	chr12:59798020-59798021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559052	chr12:59532203-59809256	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv3487653	chr12:59797855-59798345	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv3517995	chr12:59797873-59798354	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3517997	chr12:59797886-59798355	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv3517998	chr12:59797903-59798278	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
12	esv3487642	chr12:59797909-59798315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv3487664	chr12:59797910-59798311	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
14	esv3487675	chr12:59797923-59798266	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv3411158	chr12:59797928-59798194	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
16	esv3487686	chr12:59797987-59798239	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
17	esv3517999	chr12:59797987-59798239	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59797400-59798400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:59797600-59802200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:59797800-59798400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:59797800-59801800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:59797800-59802000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:59798000-59798200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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