Variant report

Variant	rs60343552
Chromosome Location	chr4:7999828-7999829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13108278	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16841542	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34336913	0.91[EUR][1000 genomes]
rs35901813	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72488937	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72488938	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv878579	chr4:7969594-8011696	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv593623	chr4:7991587-8012167	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
3	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:7985400-8004800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:7986800-8011400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:7988400-8001200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:7989800-8005800	Weak transcription	Psoas Muscle	Psoas
8	chr4:7991600-8006600	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:7992800-8006600	Weak transcription	Aorta	Aorta
10	chr4:7994200-8006000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:7995200-8000000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:7995800-8004000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:7997200-8001200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:7997400-8002400	Weak transcription	Esophagus	oesophagus
15	chr4:7998200-8000000	Weak transcription	Spleen	Spleen
16	chr4:7998600-8001400	Weak transcription	Right Ventricle	heart
17	chr4:7998600-8011600	Weak transcription	Fetal Brain Female	brain
18	chr4:7998800-8005800	Weak transcription	Brain Germinal Matrix	brain
19	chr4:7998800-8011800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:7999200-8006600	Weak transcription	Pancreas	Pancrea
21	chr4:7999600-8007200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:7999800-8007800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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