Variant report

Variant	rs7590515
Chromosome Location	chr2:168504308-168504309
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10187562	1.00[AMR][1000 genomes]
rs10211225	1.00[AMR][1000 genomes]
rs16853982	1.00[AMR][1000 genomes]
rs16853990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16854002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16854039	1.00[AMR][1000 genomes]
rs6433003	1.00[AMR][1000 genomes]
rs6758973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73015463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73015464	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73015475	0.85[AMR][1000 genomes]
rs73015478	0.85[AMR][1000 genomes]
rs73015480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7564626	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7578134	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv583594	chr2:168461161-168597986	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1005875	chr2:168481626-168628276	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv536032	chr2:168481626-168628276	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2757840	chr2:168489369-168640310	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2759100	chr2:168489369-168640310	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168490600-168507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168493600-168507600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:168502200-168504800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:168503000-168504400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:168503400-168507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:168503600-168508200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:168504000-168509000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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

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