Variant report

Variant	rs7557354
Chromosome Location	chr2:48302228-48302229
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17037226	1.00[AMR][1000 genomes]
rs17039245	1.00[AMR][1000 genomes]
rs56909791	1.00[AMR][1000 genomes]
rs59044598	1.00[AMR][1000 genomes]
rs6706584	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs6709977	1.00[AMR][1000 genomes]
rs6723068	1.00[AMR][1000 genomes]
rs6728719	1.00[AMR][1000 genomes]
rs6750166	1.00[AMR][1000 genomes]
rs72882131	1.00[AMR][1000 genomes]
rs72882141	1.00[AMR][1000 genomes]
rs72882148	1.00[AMR][1000 genomes]
rs72883965	1.00[AMR][1000 genomes]
rs72883976	1.00[AMR][1000 genomes]
rs72883981	1.00[AMR][1000 genomes]
rs72885740	1.00[AMR][1000 genomes]
rs72885747	1.00[AMR][1000 genomes]
rs72885750	1.00[AMR][1000 genomes]
rs72885760	1.00[AMR][1000 genomes]
rs72885796	1.00[AMR][1000 genomes]
rs72885800	1.00[AMR][1000 genomes]
rs72885801	1.00[AMR][1000 genomes]
rs7606543	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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1000455	chr2:48202161-48362638	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv833969	chr2:48220927-48328328	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48288600-48303800	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:48294800-48309400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:48297600-48302400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:48298400-48321400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:48301400-48317400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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