Variant report

Variant	rs60228393
Chromosome Location	chr4:96147249-96147250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17022921	1.00[EUR][1000 genomes]
rs17022927	1.00[EUR][1000 genomes]
rs17022948	1.00[EUR][1000 genomes]
rs17022969	1.00[EUR][1000 genomes]
rs28449314	1.00[AMR][1000 genomes]
rs28552550	1.00[AMR][1000 genomes]
rs72878129	1.00[AMR][1000 genomes]
rs72878195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv879623	chr4:96123466-96168719	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
2	chr4:96135600-96153600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:96138200-96147800	Weak transcription	Ovary	ovary
4	chr4:96140600-96152600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:96140600-96163400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:96141400-96153800	Weak transcription	Fetal Lung	lung
7	chr4:96141600-96163200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:96142600-96157800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:96143000-96153600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:96143200-96153000	Weak transcription	Fetal Kidney	kidney
11	chr4:96146400-96147600	Weak transcription	Aorta	Aorta
12	chr4:96146800-96147600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:96147000-96147600	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr4:96147000-96148000	Enhancers	Brain Angular Gyrus	brain
15	chr4:96147000-96148000	Enhancers	Brain Hippocampus Middle	brain
16	chr4:96147000-96148200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:96147000-96148200	Enhancers	Brain Substantia Nigra	brain
18	chr4:96147200-96147600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:96147200-96148000	Enhancers	Brain Cingulate Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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