Variant report

Variant	rs1816492
Chromosome Location	chr10:45854912-45854913
allele	A/C/T
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:18)

rs_ID	r²[population]
rs10793616	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239484	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1369214	0.84[ASN][1000 genomes]
rs1864415	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2311340	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35990892	0.82[EUR][1000 genomes]
rs4483541	0.83[EUR][1000 genomes]
rs4948671	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4948998	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4948999	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6593479	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7076696	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7099684	0.86[ASN][1000 genomes]
rs7477350	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7894352	0.82[ASN][1000 genomes]
rs7909514	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs934187	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9988764	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45848400-45863400	Weak transcription	Primary B cells from cord blood	blood
2	chr10:45850000-45857800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr10:45850400-45857600	Weak transcription	K562	blood
4	chr10:45854200-45855000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:45854200-45855000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr10:45854200-45855000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr10:45854200-45855000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:45854200-45855000	Enhancers	Thymus	Thymus
9	chr10:45854200-45855400	Enhancers	Fetal Thymus	thymus
10	chr10:45854400-45855000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:45854400-45855000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:45854600-45855000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr10:45854600-45855000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:45854600-45857600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:45854800-45855600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr10:45854800-45857600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:45854800-45857600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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