Variant report

Variant	rs16864434
Chromosome Location	chr1:171336180-171336181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12065835	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs12119640	0.83[EUR][1000 genomes]
rs12120784	0.83[EUR][1000 genomes]
rs12121703	0.83[EUR][1000 genomes]
rs12122309	0.83[EUR][1000 genomes]
rs12130175	0.92[EUR][1000 genomes]
rs12131722	0.92[EUR][1000 genomes]
rs12138802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141357	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs12142448	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs12142487	0.83[EUR][1000 genomes]
rs12145368	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs60349465	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6667529	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674434	0.83[EUR][1000 genomes]
rs6674736	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6675911	0.83[EUR][1000 genomes]
rs6699345	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs7516764	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518815	0.83[EUR][1000 genomes]
rs7525073	0.83[EUR][1000 genomes]
rs7545776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7548898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002423	chr1:171294384-171376936	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv548188	chr1:171308832-171371998	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
7	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171334600-171336600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:171334800-171336200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:171335600-171336400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:171335600-171336400	Enhancers	Small Intestine	intestine
5	chr1:171335600-171336800	Enhancers	Fetal Intestine Large	intestine
6	chr1:171335800-171336600	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:171335800-171336800	Enhancers	Fetal Intestine Small	intestine
8	chr1:171336000-171336200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:171336000-171336400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:171336000-171337200	Enhancers	Aorta	Aorta

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