Variant report

Variant	rs6860601
Chromosome Location	chr5:111652315-111652316
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1019745	0.88[YRI][hapmap]
rs11739473	0.92[CEU][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11744328	0.84[CEU][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs12653972	0.89[CEU][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13170903	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs13355094	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13355356	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1474361	0.89[CEU][hapmap];0.81[AFR][1000 genomes]
rs1474362	0.89[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs2162739	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs366180	1.00[CEU][hapmap]
rs444205	0.81[AFR][1000 genomes]
rs4455607	0.95[CHB][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4957644	0.82[ASN][1000 genomes]
rs4958035	0.87[CHB][hapmap];0.86[JPT][hapmap];0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4958036	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs4958038	1.00[CEU][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4958042	0.89[CEU][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs6594583	0.81[ASN][1000 genomes]
rs6860443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715378	0.90[ASN][1000 genomes]
rs885137	0.89[CEU][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9326852	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs940470	0.92[CEU][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111639800-111652400	Weak transcription	Left Ventricle	heart
3	chr5:111640200-111656400	Weak transcription	Psoas Muscle	Psoas
4	chr5:111647000-111652400	Weak transcription	Right Atrium	heart
5	chr5:111647400-111652400	Weak transcription	Right Ventricle	heart
6	chr5:111650000-111652400	Weak transcription	Hela-S3	cervix
7	chr5:111650600-111659600	Enhancers	Fetal Heart	heart
8	chr5:111651200-111654000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:111651800-111652800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:111652000-111652800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:111652000-111652800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:111652000-111654400	Enhancers	Placenta	Placenta

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