Variant report

Variant	rs34700776
Chromosome Location	chr4:74527305-74527306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74526162..74527919-chr4:74999556..75002454,2	K562	blood:

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

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

rs_ID	r²[population]
rs10019041	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1590118	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17192483	0.81[CHD][hapmap]
rs34617010	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694176	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694627	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694629	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694632	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62312151	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62314280	0.99[ASN][1000 genomes]
rs6832422	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34700776	CNOT6L	cis	parietal	SCAN
rs34700776	ANKRD17	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74521200-74530000	Weak transcription	Thymus	Thymus
2	chr4:74521400-74528400	Weak transcription	Fetal Thymus	thymus
3	chr4:74521600-74527400	Weak transcription	Dnd41	blood
4	chr4:74524600-74534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:74526000-74529000	Enhancers	Osteobl	bone
6	chr4:74526000-74529800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:74526200-74528600	Enhancers	NH-A	brain
8	chr4:74526200-74528800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:74526200-74529800	Enhancers	HUVEC	blood vessel
10	chr4:74526200-74531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:74526200-74531000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:74526400-74529000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:74526400-74529000	Enhancers	HMEC	breast
14	chr4:74526400-74529000	Enhancers	HSMM	muscle
15	chr4:74526400-74529200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:74526600-74528200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:74526600-74528600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:74526600-74529000	Enhancers	NHEK	skin
19	chr4:74526800-74528200	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:74526800-74531000	Enhancers	NHDF-Ad	bronchial
21	chr4:74527000-74527400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:74527000-74528600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:74527000-74528600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:74527000-74529200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:74527200-74527400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:74527200-74527600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:74527200-74528400	Enhancers	HSMMtube	muscle
28	chr4:74527200-74528800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:74527200-74529000	Enhancers	NHLF	lung
30	chr4:74527200-74529200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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