Variant report

Variant	rs6455917
Chromosome Location	chr6:164169311-164169312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164167299..164170044-chr6:164171641..164173179,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1111702	0.95[ASN][1000 genomes]
rs1111703	0.95[ASN][1000 genomes]
rs1570409	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4709013	0.91[ASN][1000 genomes]
rs4709750	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4709751	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910076	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932044	0.95[ASN][1000 genomes]
rs7759076	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356138	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365606	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1025171	chr6:164113981-164170027	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6455917	RNASET2	cis	cerebellum	SCAN
rs6455917	FGFR1OP	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164163200-164178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:164166400-164170200	Weak transcription	Fetal Brain Male	brain
3	chr6:164166800-164173600	Enhancers	Fetal Heart	heart
4	chr6:164167200-164169600	Weak transcription	Right Atrium	heart
5	chr6:164167400-164171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:164167400-164171600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:164167400-164172000	Weak transcription	HSMMtube	muscle
8	chr6:164167800-164171400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:164167800-164171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:164167800-164177200	Weak transcription	HSMM	muscle
11	chr6:164168400-164172800	Enhancers	Fetal Muscle Leg	muscle
12	chr6:164168600-164170400	Enhancers	Fetal Muscle Trunk	muscle
13	chr6:164168600-164170400	Enhancers	Left Ventricle	heart
14	chr6:164168600-164170800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:164168600-164171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:164168600-164171800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:164169000-164169400	Enhancers	Esophagus	oesophagus
18	chr6:164169000-164170200	Enhancers	Right Ventricle	heart
19	chr6:164169200-164169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:164169200-164169800	Enhancers	Primary T cells from cord blood	blood
21	chr6:164169200-164172600	Enhancers	Brain Germinal Matrix	brain

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