Variant report

Variant	rs10493217
Chromosome Location	chr1:57820637-57820638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10493216	0.80[YRI][hapmap];0.83[ASN][1000 genomes]
rs17422855	0.83[ASN][1000 genomes]
rs17424237	0.83[ASN][1000 genomes]
rs17424278	0.83[ASN][1000 genomes]
rs17424691	0.83[ASN][1000 genomes]
rs17456794	0.83[ASN][1000 genomes]
rs17456828	0.83[ASN][1000 genomes]
rs17456884	0.89[YRI][hapmap];0.83[ASN][1000 genomes]
rs17458265	0.83[ASN][1000 genomes]
rs41324751	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56111567	0.83[ASN][1000 genomes]
rs56168067	0.83[ASN][1000 genomes]
rs56221416	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6693181	0.83[ASN][1000 genomes]
rs72674849	0.83[ASN][1000 genomes]
rs72674850	0.83[ASN][1000 genomes]
rs72674851	0.83[ASN][1000 genomes]
rs72674853	0.83[ASN][1000 genomes]
rs72674856	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv871530	chr1:57793948-57858319	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871968	chr1:57803349-57858319	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57800000-57826600	Weak transcription	Left Ventricle	heart
2	chr1:57808200-57822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:57816400-57822800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:57817600-57822400	Weak transcription	Fetal Brain Female	brain
5	chr1:57817600-57826600	Weak transcription	Fetal Brain Male	brain
6	chr1:57819200-57821400	Enhancers	Fetal Heart	heart
7	chr1:57819400-57822000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:57819400-57822600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:57819400-57826600	Weak transcription	Fetal Stomach	stomach
10	chr1:57819400-57832000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:57819600-57820800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:57819800-57822400	Weak transcription	Fetal Lung	lung

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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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