Variant report

Variant	rs68061967
Chromosome Location	chr3:69406532-69406533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:69406405-69406753	Hela-S3	cervix:	n/a	n/a
2	E2F4	chr3:69406504-69406666	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr3:69406472-69406539	GM13976	blood:	n/a	n/a
4	MYC	chr3:69406494-69406760	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
FRMD4B	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10865649	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11128126	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11707811	0.89[ASN][1000 genomes]
rs1564757	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17005647	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2007584	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2170800	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35331889	0.85[ASN][1000 genomes]
rs4290808	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4428187	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4855308	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4855389	0.86[ASN][1000 genomes]
rs56336456	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59563257	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62254082	0.83[ASN][1000 genomes]
rs6419766	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6549203	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6771772	0.84[ASN][1000 genomes]
rs6774274	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6776474	0.88[ASN][1000 genomes]
rs7611647	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7612526	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7617464	0.92[ASN][1000 genomes]
rs9310148	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9310149	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9861135	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9868217	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9868990	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1800315	chr3:69374729-69414587	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv520818	chr3:69401248-69421495	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69400600-69412800	Weak transcription	Esophagus	oesophagus
2	chr3:69402200-69419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:69402800-69413000	Weak transcription	Aorta	Aorta
4	chr3:69403000-69414800	Weak transcription	Lung	lung
5	chr3:69403800-69406600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:69403800-69413000	Weak transcription	Thymus	Thymus
7	chr3:69404200-69408200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:69404600-69407000	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:69405000-69408600	Weak transcription	HUVEC	blood vessel
10	chr3:69405800-69406800	Enhancers	Brain Substantia Nigra	brain
11	chr3:69406000-69406600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:69406000-69406800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:69406000-69407000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:69406000-69407200	Enhancers	Hela-S3	cervix
15	chr3:69406000-69407200	Genic enhancers	NHEK	skin
16	chr3:69406000-69407400	Enhancers	HSMMtube	muscle
17	chr3:69406000-69407600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:69406000-69407600	Enhancers	HMEC	breast
19	chr3:69406200-69406600	Enhancers	Fetal Thymus	thymus
20	chr3:69406200-69406600	Enhancers	Left Ventricle	heart
21	chr3:69406200-69406600	Enhancers	Right Atrium	heart
22	chr3:69406200-69406800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr3:69406200-69406800	Enhancers	Dnd41	blood
24	chr3:69406200-69407200	Enhancers	Brain Anterior Caudate	brain
25	chr3:69406200-69407400	Enhancers	Brain Hippocampus Middle	brain
26	chr3:69406200-69407600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:69406200-69407600	Enhancers	Fetal Lung	lung
28	chr3:69406200-69408000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:69406200-69408000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:69406400-69406800	Enhancers	Brain Angular Gyrus	brain
31	chr3:69406400-69406800	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:69406400-69406800	Weak transcription	HSMM	muscle
33	chr3:69406400-69406800	Enhancers	NHLF	lung
34	chr3:69406400-69407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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