Variant report

Variant	rs17243751
Chromosome Location	chr4:91644790-91644791
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12507217	0.83[CEU][hapmap]
rs12513283	0.85[CEU][hapmap]
rs1454329	0.94[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap]
rs17183653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17183896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17185435	0.94[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17185519	0.94[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17187179	0.83[CHB][hapmap]
rs17243064	0.94[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs17244178	0.89[CEU][hapmap]
rs17244283	0.94[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17245345	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17246676	0.82[CHB][hapmap]
rs60127568	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6819756	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6833272	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs749653	0.89[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7663098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7683055	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv534470	chr4:91342219-91842807	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv879547	chr4:91546380-91661217	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv879548	chr4:91558486-91661217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv461581	chr4:91596734-91647046	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv594833	chr4:91596734-91647046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv4420	chr4:91616307-91661796	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv428766	chr4:91618397-91768647	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv980458	chr4:91639363-91644810	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91643800-91646200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr4:91644200-91649200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:91644400-91645600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:91644600-91644800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:91644600-91648600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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

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