Variant report

Variant	rs2078383
Chromosome Location	chr6:118706643-118706644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10456917	0.91[ASN][1000 genomes]
rs10457330	0.93[ASN][1000 genomes]
rs10457331	0.93[ASN][1000 genomes]
rs10457335	0.91[ASN][1000 genomes]
rs10457337	0.90[ASN][1000 genomes]
rs10457338	0.94[CHB][hapmap];0.91[ASN][1000 genomes]
rs11153730	0.81[EUR][1000 genomes]
rs11153732	0.92[ASN][1000 genomes]
rs11153734	0.93[ASN][1000 genomes]
rs11153748	0.91[ASN][1000 genomes]
rs11153752	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs11153753	0.85[ASN][1000 genomes]
rs11752626	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11753128	0.86[ASN][1000 genomes]
rs11755121	0.88[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs11758454	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11965985	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11967375	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11967858	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11968176	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11968351	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs11970286	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12192682	0.83[ASN][1000 genomes]
rs12192964	0.93[ASN][1000 genomes]
rs12194555	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs12197337	0.83[ASN][1000 genomes]
rs12198461	0.81[ASN][1000 genomes]
rs12199463	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs12205899	0.80[ASN][1000 genomes]
rs12206329	0.94[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs12207209	0.86[ASN][1000 genomes]
rs12211576	0.83[ASN][1000 genomes]
rs12214483	0.94[CHB][hapmap];0.91[ASN][1000 genomes]
rs12660455	0.93[ASN][1000 genomes]
rs12661338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13192336	0.94[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs13192574	0.83[ASN][1000 genomes]
rs13217710	0.84[ASN][1000 genomes]
rs13219555	0.88[ASN][1000 genomes]
rs17226667	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17227124	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17825393	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17825652	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2078079	0.90[ASN][1000 genomes]
rs2213856	0.94[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs2213857	0.89[ASN][1000 genomes]
rs2356183	0.91[ASN][1000 genomes]
rs2356492	0.94[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2356497	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34479834	0.86[ASN][1000 genomes]
rs35029749	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35730412	0.94[ASN][1000 genomes]
rs3734381	0.81[CHB][hapmap]
rs3752581	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs3798420	0.94[CHB][hapmap];0.91[ASN][1000 genomes]
rs3890198	0.94[ASN][1000 genomes]
rs3951042	0.93[ASN][1000 genomes]
rs3951043	0.93[ASN][1000 genomes]
rs4027880	0.93[ASN][1000 genomes]
rs4307206	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4946347	0.87[ASN][1000 genomes]
rs56403768	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57813349	0.93[ASN][1000 genomes]
rs57912492	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6569020	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs67832971	0.86[ASN][1000 genomes]
rs6903459	0.80[ASN][1000 genomes]
rs6925641	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs6928210	0.80[ASN][1000 genomes]
rs6936178	0.93[ASN][1000 genomes]
rs6938041	0.86[ASN][1000 genomes]
rs6938226	0.86[ASN][1000 genomes]
rs72952771	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72952795	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72967533	0.80[EUR][1000 genomes]
rs763254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7746778	0.91[ASN][1000 genomes]
rs7751467	0.94[CHB][hapmap]
rs7757892	0.85[ASN][1000 genomes]
rs7757943	0.80[ASN][1000 genomes]
rs7767864	0.80[ASN][1000 genomes]
rs7772214	0.89[ASN][1000 genomes]
rs973944	0.94[CHB][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv604554	chr6:118631282-118716318	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv604555	chr6:118695049-118856822	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118699600-118707600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:118699600-118716400	Weak transcription	Psoas Muscle	Psoas
3	chr6:118700800-118708800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:118706000-118707600	Weak transcription	NHLF	lung
5	chr6:118706000-118708600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:118706000-118708800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:118706000-118708800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:118706000-118708800	Weak transcription	NHDF-Ad	bronchial
9	chr6:118706000-118708800	Weak transcription	Osteobl	bone
10	chr6:118706000-118710400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:118706200-118708400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:118706200-118708400	Weak transcription	HUVEC	blood vessel
13	chr6:118706600-118707400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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