Variant report

Variant	rs551895
Chromosome Location	chr1:216322497-216322498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17649639	0.86[ASN][1000 genomes]
rs301743	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301748	0.86[ASN][1000 genomes]
rs301749	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301751	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301753	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368107	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400358	0.86[ASN][1000 genomes]
rs414373	0.86[ASN][1000 genomes]
rs446247	1.00[ASN][1000 genomes]
rs448588	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452747	1.00[ASN][1000 genomes]
rs453273	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594799	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619803	0.86[ASN][1000 genomes]
rs627143	0.80[EUR][1000 genomes]
rs687476	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv999211	chr1:216268796-216329336	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr1:216315000-216324000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:216318800-216326000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:216318800-216326200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:216318800-216330400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:216319000-216326400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:216321800-216322600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:216322200-216322600	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:216322400-216323000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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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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