Variant report

Variant	rs12207069
Chromosome Location	chr6:164082927-164082928
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164072890..164076945-chr6:164079644..164083492,4	K562	blood:
2	chr6:164081712..164084743-chr6:164086465..164089589,3	K562	blood:
3	chr6:164072890..164075132-chr6:164081239..164084197,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2146465	0.80[ASN][1000 genomes]
rs4709001	0.80[ASN][1000 genomes]
rs66804096	0.97[ASN][1000 genomes]
rs7742763	0.97[ASN][1000 genomes]
rs7743998	0.88[CHB][hapmap]
rs7744332	0.88[CHB][hapmap]
rs7756747	1.00[ASN][1000 genomes]
rs7763577	1.00[ASN][1000 genomes]
rs9364697	0.80[ASN][1000 genomes]
rs9458878	0.80[ASN][1000 genomes]
rs9458879	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12207069	SFT2D1	cis	parietal	SCAN

Chromatin state (count:30 , 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	chr6:164080200-164084200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:164081000-164083600	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:164081400-164083000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:164081400-164083200	Enhancers	Primary B cells from cord blood	blood
6	chr6:164081600-164083000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:164081600-164083200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:164081600-164083200	Enhancers	Brain Hippocampus Middle	brain
9	chr6:164081600-164083200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr6:164081600-164083600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:164081600-164085400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr6:164081800-164083000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:164082000-164083000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr6:164082000-164083400	Enhancers	Fetal Muscle Leg	muscle
15	chr6:164082000-164083800	Enhancers	Placenta	Placenta
16	chr6:164082200-164083000	Enhancers	Brain Anterior Caudate	brain
17	chr6:164082200-164083000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr6:164082200-164083000	Enhancers	Fetal Heart	heart
19	chr6:164082200-164083000	Enhancers	Left Ventricle	heart
20	chr6:164082200-164083200	Enhancers	Brain Substantia Nigra	brain
21	chr6:164082200-164085200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:164082400-164083000	Enhancers	Brain Angular Gyrus	brain
23	chr6:164082400-164083000	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:164082400-164083200	Enhancers	Brain Germinal Matrix	brain
25	chr6:164082400-164083600	Enhancers	Fetal Muscle Trunk	muscle
26	chr6:164082600-164083400	Enhancers	GM12878-XiMat	blood
27	chr6:164082600-164083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:164082600-164087600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:164082800-164085000	Weak transcription	Psoas Muscle	Psoas
30	chr6:164082800-164085000	Weak transcription	Right Atrium	heart

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