Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164151367..164155187-chr6:164160904..164163779,4	MCF-7	breast:
2	chr6:164161305..164164067-chr6:164164278..164167269,3	K562	blood:

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1111702	0.84[ASN][1000 genomes]
rs1111703	0.84[ASN][1000 genomes]
rs1570409	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709013	0.80[ASN][1000 genomes]
rs4709748	0.88[AMR][1000 genomes]
rs4709751	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6455917	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6910076	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6932044	0.84[ASN][1000 genomes]
rs7759076	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9347782	0.84[AMR][1000 genomes]
rs9356138	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9365606	0.84[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4709750	FGFR1OP	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164160600-164168000	Enhancers	Fetal Muscle Leg	muscle
2	chr6:164161000-164165000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:164161000-164165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:164161200-164166200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:164161200-164166200	Weak transcription	Adipose Nuclei	Adipose
6	chr6:164161200-164166800	Weak transcription	Fetal Lung	lung
7	chr6:164161600-164165800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:164161800-164165600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:164161800-164166200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:164162200-164166000	Enhancers	Fetal Heart	heart
11	chr6:164162400-164163600	Flanking Active TSS	K562	blood
12	chr6:164162400-164166400	Enhancers	Right Ventricle	heart
13	chr6:164162800-164163800	Enhancers	Left Ventricle	heart
14	chr6:164163000-164163800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr6:164163000-164163800	Enhancers	Lung	lung
16	chr6:164163200-164165400	Weak transcription	Right Atrium	heart
17	chr6:164163200-164166000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:164163200-164178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:164163400-164163600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:164163400-164165400	Weak transcription	Brain Germinal Matrix	brain

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