Variant report

Variant	rs2331575
Chromosome Location	chr4:69855725-69855726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10000481	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10004381	1.00[EUR][1000 genomes]
rs10005280	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10014997	1.00[EUR][1000 genomes]
rs10015332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10018123	1.00[EUR][1000 genomes]
rs10030582	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10030703	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10903222	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1117530	1.00[EUR][1000 genomes]
rs1117531	1.00[EUR][1000 genomes]
rs11728297	1.00[ASN][1000 genomes]
rs1303726	1.00[EUR][1000 genomes]
rs13113179	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13148459	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13148751	0.97[ASN][1000 genomes]
rs1379814	1.00[EUR][1000 genomes]
rs1379815	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1458239	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1598901	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1902924	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2018001	0.98[ASN][1000 genomes]
rs2125306	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2331566	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2331576	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2877423	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828503	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3966087	1.00[EUR][1000 genomes]
rs4391113	0.97[ASN][1000 genomes]
rs4419538	0.98[ASN][1000 genomes]
rs4532300	0.97[ASN][1000 genomes]
rs4643882	0.98[ASN][1000 genomes]
rs4694492	0.90[ASN][1000 genomes]
rs6812386	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6814321	1.00[EUR][1000 genomes]
rs6818594	1.00[ASN][1000 genomes]
rs6851476	1.00[ASN][1000 genomes]
rs6858371	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7657317	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7659264	0.97[ASN][1000 genomes]
rs7659867	1.00[ASN][1000 genomes]
rs7664636	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7672933	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7678708	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7688541	1.00[EUR][1000 genomes]
rs9329038	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv967758	chr4:69780530-69870183	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv829962	chr4:69786869-69910283	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv10520	chr4:69852230-69856001	ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69853400-69856000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:69855200-69856000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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