Variant report

Variant	rs4800283
Chromosome Location	chr18:25157817-25157818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1420948	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1420952	1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16943779	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16943782	1.00[AMR][1000 genomes]
rs16943789	1.00[AMR][1000 genomes]
rs16943806	1.00[AMR][1000 genomes]
rs16943849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4800816	1.00[AMR][1000 genomes]
rs56387355	1.00[AMR][1000 genomes]
rs57518255	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59085826	1.00[AMR][1000 genomes]
rs73412987	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413000	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73414903	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73414911	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73414942	0.91[AFR][1000 genomes]
rs73414945	1.00[AMR][1000 genomes]
rs73944952	1.00[AMR][1000 genomes];1.00[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	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv833602	chr18:24993030-25180823	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25156800-25158000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:25157200-25158000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr18:25157200-25158200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:25157200-25158200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:25157200-25158200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr18:25157200-25158200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr18:25157200-25158400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr18:25157200-25158800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr18:25157200-25159000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:25157200-25159200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr18:25157400-25158000	Enhancers	Fetal Muscle Trunk	muscle
12	chr18:25157400-25158200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr18:25157400-25158200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr18:25157400-25158400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr18:25157400-25158600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr18:25157600-25158000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr18:25157600-25161400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:25157800-25158200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	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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