Variant report

Variant	rs4693789
Chromosome Location	chr4:87818588-87818589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10017360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11731586	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11935015	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11939730	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12503661	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13128982	0.80[ASN][1000 genomes]
rs13137142	0.88[ASN][1000 genomes]
rs13141097	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1374934	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1550931	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1584345	0.88[GIH][hapmap];0.82[MEX][hapmap]
rs2594281	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2594282	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2594284	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2705622	1.00[ASN][1000 genomes]
rs2705623	0.95[ASN][1000 genomes]
rs2705624	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2705626	0.89[ASN][1000 genomes]
rs2705627	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2869631	0.94[AFR][1000 genomes]
rs2904149	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2922234	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4508849	1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs4693788	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs56414102	0.87[ASN][1000 genomes]
rs57477100	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6531936	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[ASN][1000 genomes]
rs6531937	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[ASN][1000 genomes]
rs73838351	0.88[ASN][1000 genomes]
rs7656537	0.86[ASN][1000 genomes]
rs7657443	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7663218	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8180256	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87814000-87825000	Weak transcription	Right Atrium	heart
2	chr4:87814000-87825200	Weak transcription	Left Ventricle	heart
3	chr4:87814200-87824800	Weak transcription	Adipose Nuclei	Adipose
4	chr4:87814200-87825000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:87814200-87825200	Weak transcription	Right Ventricle	heart
6	chr4:87814200-87825200	Weak transcription	A549	lung
7	chr4:87814200-87829400	Weak transcription	K562	blood
8	chr4:87814400-87825000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:87814400-87825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:87814400-87825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:87814600-87821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:87814600-87821600	Weak transcription	Placenta	Placenta
13	chr4:87814600-87825200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:87814600-87830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:87816000-87818800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:87816200-87821600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:87816200-87821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:87816200-87825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:87816600-87818600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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