Variant report

Variant	rs10204497
Chromosome Location	chr2:179266127-179266128
allele	A/G
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]
rs10173183	0.87[EUR][1000 genomes]
rs1017397	0.83[ASN][1000 genomes]
rs10201175	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11688081	0.84[EUR][1000 genomes]
rs1560870	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114581	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276617	0.87[EUR][1000 genomes]
rs2366601	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4019558	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4404314	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6757186	0.89[EUR][1000 genomes]
rs723841	0.87[EUR][1000 genomes]
rs728005	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7589565	0.84[EUR][1000 genomes]
rs7605289	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs890579	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs919177	0.90[EUR][1000 genomes]
rs9973732	0.84[EUR][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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179201800-179268200	Weak transcription	HSMM	muscle
2	chr2:179249000-179269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179251000-179268600	Weak transcription	NH-A	brain
4	chr2:179253200-179269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:179255000-179269200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:179255600-179268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:179256000-179269200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:179256200-179269200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:179256200-179269200	Weak transcription	HMEC	breast
10	chr2:179257400-179266800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:179261000-179266800	Weak transcription	NHDF-Ad	bronchial
12	chr2:179261200-179268600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:179262200-179267000	Weak transcription	GM12878-XiMat	blood
14	chr2:179262600-179266800	Weak transcription	HSMMtube	muscle
15	chr2:179266000-179266200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:179266000-179266600	Enhancers	K562	blood

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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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