Variant report

Variant	rs12494868
Chromosome Location	chr3:145439593-145439594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10935583	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11923561	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12491765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13075353	0.92[EUR][1000 genomes]
rs3915013	0.92[EUR][1000 genomes]
rs4117780	0.90[EUR][1000 genomes]
rs4117781	0.84[EUR][1000 genomes]
rs58187053	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71313862	0.92[EUR][1000 genomes]
rs71313863	0.92[EUR][1000 genomes]
rs7629539	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877584	chr3:144903957-145833232	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3330499	chr3:145334189-145596853	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3379945	chr3:145351163-145679850	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv523075	chr3:145387917-145482086	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523565	chr3:145433939-145482086	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv877609	chr3:145433939-145504317	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3327389	chr3:145437087-145439635	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3423825	chr3:145437262-145439760	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv3371988	chr3:145437512-145440060	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3406437	chr3:145437687-145440235	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	nsv508251	chr3:145438309-145492113	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145437800-145439600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:145439200-145439600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:145439200-145439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:145439200-145440000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:145439200-145440000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:145439400-145439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:145439400-145439800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:145439400-145439800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:145439400-145440200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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

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