Variant report

Variant	rs6758320
Chromosome Location	chr2:134373195-134373196
allele	A/G
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:19)

rs_ID	r²[population]
rs10174467	0.82[ASN][1000 genomes]
rs10200864	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13382906	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13402567	0.84[ASN][1000 genomes]
rs13419711	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1614797	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1622528	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1653790	0.83[ASN][1000 genomes]
rs1653791	0.82[ASN][1000 genomes]
rs1653792	0.83[ASN][1000 genomes]
rs1653794	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1669465	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1669469	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1901451	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1901452	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2167530	0.82[ASN][1000 genomes]
rs61112423	0.84[ASN][1000 genomes]
rs6430435	0.82[ASN][1000 genomes]
rs73000199	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv2934	chr2:134368478-134412454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134364800-134373200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:134368000-134389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:134368200-134378800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:134368200-134382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:134368200-134382000	Weak transcription	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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