Variant report

Variant	rs6823593
Chromosome Location	chr4:8154945-8154946
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	chr4:8153109..8155276-chr4:8158816..8161389,2	K562	blood:

Variant related genes	Relation type
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1281147	1.00[EUR][1000 genomes]
rs1292647	1.00[EUR][1000 genomes]
rs28572219	1.00[EUR][1000 genomes]
rs28620285	1.00[EUR][1000 genomes]
rs55750784	1.00[EUR][1000 genomes]
rs57584841	1.00[EUR][1000 genomes]
rs58912103	1.00[EUR][1000 genomes]
rs60246256	1.00[EUR][1000 genomes]
rs60263323	1.00[EUR][1000 genomes]
rs60368234	1.00[EUR][1000 genomes]
rs60793748	1.00[EUR][1000 genomes]
rs61335356	1.00[EUR][1000 genomes]
rs6847028	1.00[EUR][1000 genomes]
rs73074061	1.00[EUR][1000 genomes]
rs73074066	1.00[EUR][1000 genomes]
rs73074071	1.00[EUR][1000 genomes]
rs73074081	1.00[EUR][1000 genomes]
rs73074083	1.00[EUR][1000 genomes]
rs73796888	1.00[EUR][1000 genomes]
rs73801722	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878592	chr4:8105399-8163560	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6823593	AMPD3	trans	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8144200-8158000	Weak transcription	Gastric	stomach
2	chr4:8146800-8158200	Weak transcription	Brain Angular Gyrus	brain
3	chr4:8146800-8159200	Weak transcription	Lung	lung
4	chr4:8147000-8158200	Weak transcription	Aorta	Aorta
5	chr4:8149000-8158000	Weak transcription	Fetal Brain Female	brain
6	chr4:8153200-8155400	Enhancers	Right Ventricle	heart
7	chr4:8153400-8155400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:8153400-8158000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:8153800-8155400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:8153800-8155400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr4:8154000-8155400	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr4:8154000-8155400	Enhancers	Left Ventricle	heart
13	chr4:8154000-8155400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr4:8154200-8155200	Enhancers	Fetal Heart	heart
15	chr4:8154200-8155400	Enhancers	Spleen	Spleen
16	chr4:8154200-8159000	Weak transcription	Esophagus	oesophagus
17	chr4:8154400-8155000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:8154600-8155000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:8154600-8155200	Enhancers	Pancreas	Pancrea
20	chr4:8154600-8155400	Enhancers	Psoas Muscle	Psoas
21	chr4:8154600-8159000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:8154800-8155000	Bivalent Enhancer	HSMMtube	muscle
23	chr4:8154800-8155200	Enhancers	Brain Anterior Caudate	brain
24	chr4:8154800-8155400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:8154800-8158400	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:8154800-8159200	Weak transcription	Right Atrium	heart

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