Variant report

Variant	rs57086689
Chromosome Location	chr4:151080269-151080270
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	chr4:151078198..151081069-chr4:151085452..151087765,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56658749	1.00[AMR][1000 genomes]
rs57376312	1.00[AMR][1000 genomes]
rs58813780	1.00[AMR][1000 genomes]
rs60502732	1.00[AMR][1000 genomes]
rs72951591	1.00[AMR][1000 genomes]
rs72953824	1.00[AMR][1000 genomes]
rs72953832	1.00[AMR][1000 genomes]
rs72953841	1.00[AMR][1000 genomes]
rs72955804	1.00[AMR][1000 genomes]
rs72967205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967244	1.00[AMR][1000 genomes]
rs72967249	1.00[AMR][1000 genomes]
rs72969281	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:151070800-151080600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:151071400-151091400	Weak transcription	Osteobl	bone
4	chr4:151071600-151080400	Weak transcription	NHLF	lung
5	chr4:151071600-151091600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:151072600-151088000	Weak transcription	Fetal Stomach	stomach
7	chr4:151072600-151089000	Weak transcription	Aorta	Aorta
8	chr4:151074400-151081800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:151074400-151091800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:151074400-151094200	Weak transcription	NH-A	brain
11	chr4:151074600-151080400	Weak transcription	Brain Anterior Caudate	brain
12	chr4:151074600-151081400	Weak transcription	Brain Substantia Nigra	brain
13	chr4:151074600-151087800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:151074600-151090000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:151074600-151094000	Weak transcription	HSMMtube	muscle
16	chr4:151074600-151094600	Weak transcription	HSMM	muscle
17	chr4:151074800-151081200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:151075200-151085000	Weak transcription	Ovary	ovary
19	chr4:151077200-151081200	Weak transcription	Right Ventricle	heart
20	chr4:151077200-151087800	Weak transcription	A549	lung
21	chr4:151078800-151080600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:151078800-151083000	Enhancers	Fetal Heart	heart
23	chr4:151079200-151080400	Weak transcription	Left Ventricle	heart
24	chr4:151079800-151080400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:151079800-151081000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:151080000-151080600	Weak transcription	Brain Germinal Matrix	brain
27	chr4:151080200-151080400	Enhancers	Lung	lung

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