Variant report

Variant	rs9472518
Chromosome Location	chr6:45562296-45562297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12528502	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12661124	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12663210	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12665637	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1491142	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16873543	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16873550	0.86[AFR][1000 genomes]
rs16873554	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2020084	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56083876	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59074904	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60540355	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6458449	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6458450	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6458454	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6458455	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6899443	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6938247	0.90[AFR][1000 genomes]
rs6938489	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs713270	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73457129	0.87[AFR][1000 genomes]
rs7742335	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7752200	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7758915	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7759415	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7760394	0.82[AFR][1000 genomes]
rs7764338	0.83[AFR][1000 genomes]
rs9296462	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9296463	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9463108	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9472524	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9472525	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9472531	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45554400-45567200	Weak transcription	Small Intestine	intestine
2	chr6:45554800-45564600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:45557800-45563000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:45558200-45562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:45558600-45562600	Weak transcription	HSMMtube	muscle
6	chr6:45559000-45563200	Weak transcription	Brain Germinal Matrix	brain
7	chr6:45559000-45563400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:45559000-45563400	Weak transcription	Left Ventricle	heart
9	chr6:45559200-45562400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:45559200-45562800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:45559200-45563400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:45559200-45563400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:45559200-45563400	Weak transcription	HSMM	muscle
14	chr6:45559200-45563600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:45559800-45574800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:45560000-45562400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:45560400-45562400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:45560400-45566800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:45560600-45563200	Weak transcription	Fetal Kidney	kidney
20	chr6:45560600-45563400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:45560800-45563200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:45561000-45562400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:45561000-45563400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:45561600-45564000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr6:45562200-45563600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:45562200-45563800	Enhancers	Primary T helper cells fromperipheralblood	blood

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