Variant report

Variant	rs4720355
Chromosome Location	chr7:40283819-40283820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10224001	0.85[ASN][1000 genomes]
rs10226951	0.84[ASN][1000 genomes]
rs10227273	0.84[ASN][1000 genomes]
rs10227399	0.85[ASN][1000 genomes]
rs10231582	0.83[ASN][1000 genomes]
rs10231838	0.83[ASN][1000 genomes]
rs10231959	0.83[ASN][1000 genomes]
rs10237281	0.85[ASN][1000 genomes]
rs10245165	0.84[ASN][1000 genomes]
rs10248078	0.94[ASN][1000 genomes]
rs10251283	0.85[ASN][1000 genomes]
rs10252609	0.94[ASN][1000 genomes]
rs10258258	0.85[ASN][1000 genomes]
rs10260853	0.82[ASN][1000 genomes]
rs10261911	0.94[ASN][1000 genomes]
rs10262201	0.97[ASN][1000 genomes]
rs10262437	0.85[ASN][1000 genomes]
rs10266351	0.83[ASN][1000 genomes]
rs10266722	0.84[ASN][1000 genomes]
rs10270125	0.85[ASN][1000 genomes]
rs10270438	0.85[ASN][1000 genomes]
rs10278370	0.85[ASN][1000 genomes]
rs10280605	0.83[ASN][1000 genomes]
rs10282170	0.83[ASN][1000 genomes]
rs10951628	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951629	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10951630	0.81[ASN][1000 genomes]
rs10951633	0.81[ASN][1000 genomes]
rs11762020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11763124	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11764459	0.81[ASN][1000 genomes]
rs11764497	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11766698	0.84[ASN][1000 genomes]
rs11773447	0.81[ASN][1000 genomes]
rs11773663	0.81[ASN][1000 genomes]
rs12538240	0.84[ASN][1000 genomes]
rs12668394	0.94[ASN][1000 genomes]
rs12669315	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12701807	0.94[ASN][1000 genomes]
rs12701812	0.85[ASN][1000 genomes]
rs13227773	0.84[ASN][1000 genomes]
rs13235040	0.88[ASN][1000 genomes]
rs13235423	0.92[ASN][1000 genomes]
rs13235432	0.92[ASN][1000 genomes]
rs13244588	0.94[ASN][1000 genomes]
rs13247751	0.94[ASN][1000 genomes]
rs13247974	0.94[ASN][1000 genomes]
rs17171672	0.81[ASN][1000 genomes]
rs1948791	0.81[ASN][1000 genomes]
rs2329771	0.92[ASN][1000 genomes]
rs2422303	0.85[ASN][1000 genomes]
rs28477494	0.84[ASN][1000 genomes]
rs28637571	0.84[ASN][1000 genomes]
rs2901707	0.81[ASN][1000 genomes]
rs34830114	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3897941	0.86[ASN][1000 genomes]
rs3980358	0.81[ASN][1000 genomes]
rs4129802	0.84[ASN][1000 genomes]
rs4129803	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4398808	0.83[ASN][1000 genomes]
rs4433031	0.81[ASN][1000 genomes]
rs4480017	0.82[ASN][1000 genomes]
rs4585651	0.92[ASN][1000 genomes]
rs4723935	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4723936	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4723938	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4723946	0.85[ASN][1000 genomes]
rs55648745	0.94[ASN][1000 genomes]
rs57205249	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57575441	0.81[ASN][1000 genomes]
rs58664838	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61003774	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6462966	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6462967	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6462970	0.85[ASN][1000 genomes]
rs67382823	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6944348	0.90[ASN][1000 genomes]
rs6946980	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6955478	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6956802	0.97[ASN][1000 genomes]
rs6960480	0.81[ASN][1000 genomes]
rs6961025	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961146	0.81[ASN][1000 genomes]
rs6961151	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962341	0.85[ASN][1000 genomes]
rs6963317	0.94[ASN][1000 genomes]
rs6964864	0.97[ASN][1000 genomes]
rs6967242	0.85[ASN][1000 genomes]
rs6969419	0.93[ASN][1000 genomes]
rs6979118	0.85[ASN][1000 genomes]
rs73131776	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs756328	0.94[ASN][1000 genomes]
rs7778070	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7791590	0.81[ASN][1000 genomes]
rs7800400	0.92[ASN][1000 genomes]
rs7802836	0.85[ASN][1000 genomes]
rs952750	0.84[ASN][1000 genomes]
rs9638951	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1033564	chr7:40273845-40417886	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr7:40272200-40285000	Weak transcription	HSMM	muscle
2	chr7:40272200-40303400	Weak transcription	Liver	Liver
3	chr7:40280400-40284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:40280600-40291800	Weak transcription	Pancreas	Pancrea
5	chr7:40281000-40295000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:40283800-40284200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:40283800-40284200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:40283800-40284200	Enhancers	Ovary	ovary

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