Variant report

Variant	rs1323094
Chromosome Location	chr1:78645701-78645702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1022103	0.82[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10873966	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162415	0.93[ASN][1000 genomes]
rs11162417	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11162418	0.84[EUR][1000 genomes]
rs11162425	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162429	1.00[ASN][1000 genomes]
rs11579434	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12083265	0.84[EUR][1000 genomes]
rs12095545	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12131414	0.84[EUR][1000 genomes]
rs12184300	0.99[ASN][1000 genomes]
rs12749252	0.84[EUR][1000 genomes]
rs12758374	0.85[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1359043	0.84[EUR][1000 genomes]
rs1621088	0.84[EUR][1000 genomes]
rs1770306	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1770313	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1890850	1.00[ASN][1000 genomes]
rs2025610	0.84[EUR][1000 genomes]
rs2025611	0.85[EUR][1000 genomes]
rs2146612	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2208966	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2209472	0.83[EUR][1000 genomes]
rs2351907	0.81[EUR][1000 genomes]
rs2351909	0.84[EUR][1000 genomes]
rs2351910	0.84[EUR][1000 genomes]
rs2882796	0.84[EUR][1000 genomes]
rs4258183	0.81[EUR][1000 genomes]
rs4529663	0.84[EUR][1000 genomes]
rs4587522	0.83[EUR][1000 genomes]
rs4650315	0.82[EUR][1000 genomes]
rs4650382	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4650619	0.90[ASN][1000 genomes]
rs4650620	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[ASN][1000 genomes]
rs581926	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58611517	0.83[EUR][1000 genomes]
rs596803	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs599386	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs600237	0.80[EUR][1000 genomes]
rs616518	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61777350	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs619749	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs627493	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs627549	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs638232	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs640124	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs649502	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs653899	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669357	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs669764	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs671229	0.80[EUR][1000 genomes]
rs680143	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs688570	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs689374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688712	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7417073	0.81[EUR][1000 genomes]
rs7524877	0.93[ASN][1000 genomes]
rs7532752	0.84[EUR][1000 genomes]
rs7555504	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv1850497	chr1:78596312-78645701	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1000388	chr1:78638946-78665285	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
6	nsv520237	chr1:78639244-78660123	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
7	nsv546593	chr1:78645701-78651459	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78635000-78646200	Weak transcription	Fetal Intestine Small	intestine

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