Variant report

Variant	rs72994884
Chromosome Location	chr2:133727244-133727245
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11889166	1.00[EUR][1000 genomes]
rs11895552	1.00[EUR][1000 genomes]
rs16857190	1.00[EUR][1000 genomes]
rs16857197	1.00[EUR][1000 genomes]
rs16857260	1.00[EUR][1000 genomes]
rs16857605	1.00[EUR][1000 genomes]
rs2069257	1.00[EUR][1000 genomes]
rs2320320	1.00[EUR][1000 genomes]
rs59741799	1.00[EUR][1000 genomes]
rs61257975	1.00[EUR][1000 genomes]
rs6430379	1.00[EUR][1000 genomes]
rs6430393	1.00[EUR][1000 genomes]
rs6713080	1.00[EUR][1000 genomes]
rs6725275	1.00[EUR][1000 genomes]
rs6732204	1.00[EUR][1000 genomes]
rs6738269	1.00[EUR][1000 genomes]
rs6761371	1.00[EUR][1000 genomes]
rs7563261	1.00[EUR][1000 genomes]
rs7568126	1.00[EUR][1000 genomes]
rs7568144	1.00[EUR][1000 genomes]
rs7578857	1.00[EUR][1000 genomes]
rs7579940	1.00[EUR][1000 genomes]
rs7584749	1.00[EUR][1000 genomes]
rs7585734	1.00[EUR][1000 genomes]
rs997377	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1004604	chr2:133658116-133761794	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv834381	chr2:133722671-133897994	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:133714600-133735400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133721400-133732200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:133724800-133728200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133725800-133732600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:133726400-133734800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:133726600-133727600	Enhancers	HUVEC	blood vessel
7	chr2:133726800-133727400	Enhancers	NHEK	skin
8	chr2:133727000-133727400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:133727000-133727400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:133727000-133727400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:133727000-133727400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:133727200-133727400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:133727200-133727400	Enhancers	Esophagus	oesophagus

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