Variant report

Variant	rs62564598
Chromosome Location	chr9:94611329-94611330
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94611262..94612833-chr9:94616740..94619706,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10820906	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10820907	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10992123	0.81[EUR][1000 genomes]
rs10992126	0.80[AMR][1000 genomes]
rs10992128	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10992129	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10992130	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10992131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992132	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10992134	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10992135	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992137	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10992139	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10992140	0.82[EUR][1000 genomes]
rs10992142	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992144	0.82[AMR][1000 genomes]
rs12376231	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12376539	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12378938	0.80[AMR][1000 genomes]
rs12551140	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12552292	0.81[EUR][1000 genomes]
rs12552858	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1534531	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16907887	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1881385	0.80[AMR][1000 genomes]
rs1881387	0.81[EUR][1000 genomes]
rs1881392	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1997286	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2312732	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2312734	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2312735	0.80[AMR][1000 genomes]
rs2841691	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4322068	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4639579	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4743857	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4744108	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55864279	0.81[EUR][1000 genomes]
rs56088447	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56308784	0.81[EUR][1000 genomes]
rs62564595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62564597	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62564599	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62565674	0.81[EUR][1000 genomes]
rs6479374	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6479375	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479376	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67944481	0.81[EUR][1000 genomes]
rs7019210	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7031562	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7033819	0.81[EUR][1000 genomes]
rs7039406	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7045333	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7048756	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746206	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7850636	0.82[EUR][1000 genomes]
rs7855417	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7856144	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7859331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863061	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7865855	0.80[AMR][1000 genomes]
rs7867707	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7874148	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94601800-94618400	Weak transcription	K562	blood
2	chr9:94602800-94611600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:94606600-94616600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:94606800-94615000	Weak transcription	Right Atrium	heart
5	chr9:94606800-94619600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:94607200-94619600	Weak transcription	Fetal Intestine Large	intestine
7	chr9:94607600-94619600	Weak transcription	Fetal Intestine Small	intestine
8	chr9:94608400-94619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:94609000-94614400	Weak transcription	Fetal Heart	heart
10	chr9:94609200-94611400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:94609600-94617800	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:94610200-94615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:94610200-94615400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:94610200-94615600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:94610200-94616400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:94610200-94617400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr9:94610200-94619000	Weak transcription	Ovary	ovary
18	chr9:94610400-94615400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:94610400-94617400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:94610400-94618600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:94610600-94612600	Weak transcription	Fetal Stomach	stomach
22	chr9:94610600-94618800	Weak transcription	Fetal Kidney	kidney
23	chr9:94611000-94615200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:94611000-94616600	Weak transcription	Fetal Lung	lung
25	chr9:94611200-94615200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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