Variant report

Variant	rs34830114
Chromosome Location	chr7:40269113-40269114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10226951	0.89[ASN][1000 genomes]
rs10248078	0.88[ASN][1000 genomes]
rs10252609	0.88[ASN][1000 genomes]
rs10261911	0.88[ASN][1000 genomes]
rs10262201	0.92[ASN][1000 genomes]
rs10262437	0.80[ASN][1000 genomes]
rs10282170	0.88[ASN][1000 genomes]
rs10951628	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10951629	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11762020	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11763124	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11764497	0.84[ASN][1000 genomes]
rs12668394	0.88[ASN][1000 genomes]
rs12701807	0.88[ASN][1000 genomes]
rs13235040	0.83[ASN][1000 genomes]
rs13235423	0.87[ASN][1000 genomes]
rs13235432	0.87[ASN][1000 genomes]
rs13244588	0.88[ASN][1000 genomes]
rs13247751	0.88[ASN][1000 genomes]
rs13247974	0.88[ASN][1000 genomes]
rs2329771	0.86[ASN][1000 genomes]
rs3897941	0.87[ASN][1000 genomes]
rs4129803	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4585651	0.87[ASN][1000 genomes]
rs4720355	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4723935	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723936	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723938	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55648745	0.88[ASN][1000 genomes]
rs57205249	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58664838	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61003774	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6462966	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6462967	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67382823	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6944348	0.85[ASN][1000 genomes]
rs6946980	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6955478	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6956802	0.92[ASN][1000 genomes]
rs6961025	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6961151	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963317	0.88[ASN][1000 genomes]
rs6964864	0.92[ASN][1000 genomes]
rs6969419	0.96[ASN][1000 genomes]
rs73131776	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs756328	0.94[ASN][1000 genomes]
rs7778070	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7800400	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv464438	chr7:40193535-40350887	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv606710	chr7:40193535-40350887	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1019032	chr7:40204606-40280323	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv887983	chr7:40211563-40284166	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv606711	chr7:40225129-40360257	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv887984	chr7:40227307-40284166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40258800-40271800	Weak transcription	Fetal Intestine Large	intestine
2	chr7:40258800-40273800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:40264200-40272000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:40264600-40272000	Weak transcription	Liver	Liver
5	chr7:40264800-40271200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:40265000-40271800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:40268400-40269400	Weak transcription	Fetal Heart	heart
8	chr7:40268600-40269600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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