Variant report

Variant	rs980721
Chromosome Location	chr4:82052916-82052917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10857207	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11731129	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11734476	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11737112	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443538	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1443539	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1517552	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17005059	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17005062	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1838174	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1850499	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028645	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2289682	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28604504	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2868139	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55846324	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55923509	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56142532	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58198023	0.81[ASN][1000 genomes]
rs59877644	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66753456	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6821258	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6831718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849436	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7656510	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7675843	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9685762	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs980767	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs980768	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82046000-82058600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:82049000-82057600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:82049800-82054800	Weak transcription	Brain Germinal Matrix	brain
4	chr4:82049800-82065800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:82050200-82055200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:82050400-82054600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:82050400-82056200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:82050600-82062000	Strong transcription	Fetal Intestine Large	intestine
9	chr4:82051600-82054400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:82051600-82055200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:82052000-82053400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:82052000-82058800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:82052000-82075000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:82052200-82056400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:82052200-82059000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:82052400-82074400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:82052600-82056600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:82052600-82057200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:82052600-82059200	Weak transcription	Fetal Intestine Small	intestine
20	chr4:82052600-82062800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:82052800-82056200	Strong transcription	NHDF-Ad	bronchial
22	chr4:82052800-82069800	Weak transcription	Fetal Brain Female	brain

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