Variant report

Variant	rs4386983
Chromosome Location	chr8:9643599-9643600
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10098747	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11785739	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11787443	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3209608	0.81[ASN][1000 genomes]
rs4841215	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601362	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999382	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7010154	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv16865	chr8:9642195-9712807	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9638600-9644800	Weak transcription	HSMM	muscle
2	chr8:9638600-9645400	Weak transcription	Fetal Brain Male	brain
3	chr8:9640400-9646800	Weak transcription	Pancreas	Pancrea
4	chr8:9641800-9643600	Weak transcription	Fetal Heart	heart
5	chr8:9642600-9644200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:9642800-9648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:9643200-9643800	ZNF genes & repeats	HepG2	liver

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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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