Variant report

Variant	rs11799633
Chromosome Location	chr1:221143639-221143640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10495158	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17009101	0.82[EUR][1000 genomes]
rs17009107	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17009127	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17009131	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4846674	0.82[EUR][1000 genomes]
rs58419507	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6679501	0.82[EUR][1000 genomes]
rs73102756	0.82[EUR][1000 genomes]
rs73102762	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73102768	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73102772	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73102774	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102783	1.00[EUR][1000 genomes];1.00[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221143000-221143800	Enhancers	NHDF-Ad	bronchial
2	chr1:221143400-221143800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:221143400-221143800	Enhancers	Psoas Muscle	Psoas
4	chr1:221143400-221143800	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:221143400-221143800	Enhancers	NHLF	lung
6	chr1:221143400-221144000	Enhancers	Colon Smooth Muscle	Colon
7	chr1:221143600-221143800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:221143600-221144000	Enhancers	Osteobl	bone

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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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