Variant report

Variant	rs12319707
Chromosome Location	chr12:118992485-118992486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11068994	0.85[AMR][1000 genomes]
rs11068995	1.00[AMR][1000 genomes]
rs11836667	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11836672	0.85[AMR][1000 genomes]
rs12303006	0.85[AMR][1000 genomes]
rs12309816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313617	1.00[AMR][1000 genomes]
rs12316828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55945490	1.00[AMR][1000 genomes]
rs56342354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299555	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2830233	chr12:118952486-119011469	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1038601	chr12:118958107-119023980	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv523621	chr12:118958608-119019143	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv560391	chr12:118958608-119019143	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1038024	chr12:118965736-119014468	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv541614	chr12:118965736-119014468	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1043906	chr12:118991884-119087146	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118991800-118992800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr12:118991800-118993000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:118992200-118993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:118992200-118993200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:118992200-118993400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:118992400-118993400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:118992400-118993400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:118992400-118996600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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

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