Variant report

Variant	rs1510106
Chromosome Location	chr2:53192269-53192270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1446447	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17043785	0.82[CEU][hapmap]
rs17043820	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17043852	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2357017	0.80[EUR][1000 genomes]
rs56127959	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57380023	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57933407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58498043	0.86[EUR][1000 genomes]
rs59752533	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60129103	0.94[EUR][1000 genomes]
rs72795313	0.83[EUR][1000 genomes]
rs72795365	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72795374	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73931744	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs965441	0.91[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581978	chr2:53091691-53227749	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv874136	chr2:53101066-53218774	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv874137	chr2:53114775-53216917	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv874138	chr2:53114775-53218774	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv3693331	chr2:53159702-53192269	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv963875	chr2:53173006-53196302	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53185800-53194000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:53188600-53193200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:53191800-53192400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:53191800-53192600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr2:53191800-53192600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:53191800-53192600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:53191800-53192800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:53192000-53192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:53192000-53192600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:53192000-53192600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:53192000-53192600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:53192200-53192800	Enhancers	ES-I3 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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