Variant report

Variant	rs73077754
Chromosome Location	chr12:30508431-30508432
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30507863..30511356-chr12:30514045..30517303,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

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]
rs73075854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077711	1.00[AMR][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]
rs73081852	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:12 , 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	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
3	esv11198	chr12:30496609-30508640	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2754065	chr12:30499833-30560733	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv33254	chr12:30504075-30509365	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3485296	chr12:30508056-30508742	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3485285	chr12:30508109-30508713	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3485273	chr12:30508112-30508708	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3485307	chr12:30508126-30508660	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3393892	chr12:30508149-30508654	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3485318	chr12:30508174-30508639	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3485329	chr12:30508188-30508635	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30501400-30510800	Weak transcription	Fetal Heart	heart
2	chr12:30508200-30508600	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links