Variant report

Variant	rs73075854
Chromosome Location	chr12:30484027-30484028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12302529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58374057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073973	1.00[EUR][1000 genomes]
rs73073976	1.00[EUR][1000 genomes]
rs73073979	1.00[EUR][1000 genomes]
rs73073983	1.00[EUR][1000 genomes]
rs73073990	1.00[EUR][1000 genomes]
rs73073995	1.00[EUR][1000 genomes]
rs73073998	1.00[EUR][1000 genomes]
rs73075843	1.00[EUR][1000 genomes]
rs73075845	1.00[EUR][1000 genomes]
rs73075846	1.00[EUR][1000 genomes]
rs73075848	1.00[EUR][1000 genomes]
rs73075849	1.00[EUR][1000 genomes]
rs73075850	1.00[EUR][1000 genomes]
rs73077711	1.00[AMR][1000 genomes]
rs73077754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081831	1.00[EUR][1000 genomes]
rs73081846	1.00[EUR][1000 genomes]
rs73088524	1.00[EUR][1000 genomes]
rs73088540	1.00[EUR][1000 genomes]
rs73090544	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv511500	chr12:30476188-30484684	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	nsv522000	chr12:30476188-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv1841050	chr12:30478334-30484684	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv1833779	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	esv1834263	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
9	nsv558012	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	nsv558013	chr12:30478371-30491382	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
11	nsv558014	chr12:30478371-30492671	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	nsv558018	chr12:30478533-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	nsv558021	chr12:30478735-30485611	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
14	nsv558022	chr12:30478904-30485611	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
15	nsv558024	chr12:30479039-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	nsv558025	chr12:30479167-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	nsv558027	chr12:30479358-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
18	nsv558028	chr12:30479535-30485611	Enhancers Weak transcription ZNF genes & repeats	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	chr12:30482800-30484600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:30483000-30484400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:30483000-30484600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:30483000-30485800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:30483800-30484400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:30483800-30485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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