Variant report

Variant	rs58247975
Chromosome Location	chr8:20295443-20295444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12056831	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12114223	0.97[AFR][1000 genomes]
rs17092374	0.88[EUR][1000 genomes]
rs17092434	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17092492	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17092502	0.88[EUR][1000 genomes]
rs17092511	0.88[EUR][1000 genomes]
rs17419795	0.83[EUR][1000 genomes]
rs2170171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2170172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4506236	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4921718	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4922194	0.88[EUR][1000 genomes]
rs4922195	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922196	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922200	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58204896	0.88[EUR][1000 genomes]
rs58430710	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59876773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60888624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6586915	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7003097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7012806	0.97[AFR][1000 genomes]
rs73609138	0.97[AFR][1000 genomes]
rs73609141	0.97[AFR][1000 genomes]
rs73609155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73609159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73609174	0.97[AFR][1000 genomes]
rs7465534	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7827252	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7827262	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830125	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs950511	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs999746	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20291800-20296200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:20292000-20296000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:20292400-20296000	Enhancers	Primary T cells from cord blood	blood
4	chr8:20293200-20295600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:20293200-20297000	Weak transcription	Right Atrium	heart
6	chr8:20293400-20298400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:20293600-20298400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:20293600-20298800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:20293600-20299000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:20293800-20298600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:20294000-20297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:20294200-20298400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:20294200-20301600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:20294400-20298600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:20294600-20295600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:20294600-20295800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:20294600-20296200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:20294600-20297000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:20294800-20295800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:20295000-20295800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:20295000-20296000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:20295000-20296000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr8:20295000-20296400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:20295000-20311000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:20295200-20295800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:20295200-20296000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr8:20295400-20305600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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