Variant report

Variant	rs724278
Chromosome Location	chr12:30243787-30243788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11050657	1.00[EUR][1000 genomes]
rs11050658	1.00[EUR][1000 genomes]
rs11533434	1.00[EUR][1000 genomes]
rs16935387	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2760246	chr12:30235279-30244326	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv2760866	chr12:30235279-30244780	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3525816	chr12:30236535-30244533	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv973986	chr12:30237049-30243977	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv3584651	chr12:30237497-30243933	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv442641	chr12:30237501-30243933	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv3500474	chr12:30237685-30244383	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv3500485	chr12:30237685-30244383	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv33466	chr12:30240075-30246179	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv528183	chr12:30240765-30245104	Weak transcription Enhancers Active TSS	n/a	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	chr12:30243400-30243800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:30243600-30244200	Weak transcription	Stomach Smooth Muscle	stomach

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links