Variant report

Variant	rs72714112
Chromosome Location	chr1:171130539-171130540
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12065048	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16864125	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17564210	0.81[ASN][1000 genomes]
rs61815361	0.81[ASN][1000 genomes]
rs72712641	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171126600-171131600	Enhancers	Fetal Intestine Large	intestine
2	chr1:171126800-171131600	Enhancers	Fetal Intestine Small	intestine
3	chr1:171128800-171130600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:171128800-171130600	Enhancers	Fetal Stomach	stomach
5	chr1:171128800-171131200	Enhancers	Fetal Lung	lung
6	chr1:171129000-171130600	Enhancers	Fetal Kidney	kidney
7	chr1:171129000-171130600	Enhancers	Ovary	ovary
8	chr1:171129000-171130600	Enhancers	Stomach Mucosa	stomach
9	chr1:171129000-171137600	Weak transcription	Esophagus	oesophagus
10	chr1:171129200-171130800	Enhancers	HepG2	liver
11	chr1:171129400-171130600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:171129800-171130600	Flanking Active TSS	Liver	Liver
13	chr1:171130000-171130800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:171130200-171130600	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:171130200-171130600	Enhancers	Gastric	stomach
16	chr1:171130200-171130600	Enhancers	Right Atrium	heart
17	chr1:171130200-171130600	Enhancers	Small Intestine	intestine
18	chr1:171130200-171130800	Active TSS	Fetal Brain Male	brain
19	chr1:171130400-171130600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:171130400-171134600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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