Variant report

Variant	rs7742763
Chromosome Location	chr6:164084488-164084489
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	chr6:164081712..164084743-chr6:164086465..164089589,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12207069	0.97[ASN][1000 genomes]
rs2146465	0.85[AMR][1000 genomes]
rs4709001	0.83[AMR][1000 genomes]
rs4709738	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66804096	0.94[ASN][1000 genomes]
rs7756747	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7763577	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9347774	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9364697	0.82[AMR][1000 genomes]
rs9458878	0.83[AMR][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	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	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1019107	chr6:164056423-164144164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3442319	chr6:164084362-164088660	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7742763	SFT2D1	cis	parietal	SCAN
rs7742763	KLF6	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164057200-164092400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:164081600-164085400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr6:164082200-164085200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:164082600-164087600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:164082800-164085000	Weak transcription	Psoas Muscle	Psoas
6	chr6:164082800-164085000	Weak transcription	Right Atrium	heart
7	chr6:164083000-164084800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:164083000-164084800	Weak transcription	Left Ventricle	heart
9	chr6:164083000-164087000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:164083000-164087800	Weak transcription	Brain Angular Gyrus	brain
11	chr6:164083000-164087800	Weak transcription	Brain Anterior Caudate	brain
12	chr6:164083000-164087800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:164083000-164088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:164083000-164088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:164083200-164085600	Weak transcription	Brain Germinal Matrix	brain
16	chr6:164083200-164087200	Weak transcription	Primary B cells from cord blood	blood
17	chr6:164083200-164088000	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:164083200-164088400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:164083400-164087800	Weak transcription	GM12878-XiMat	blood
20	chr6:164083600-164086200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:164083800-164088000	Weak transcription	Brain Substantia Nigra	brain
22	chr6:164084000-164086400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:164084200-164084800	Enhancers	Fetal Muscle Trunk	muscle
24	chr6:164084200-164086400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:164084400-164088000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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