Variant report

Variant	rs7551910
Chromosome Location	chr1:212599978-212599979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212587274..212590722-chr1:212597664..212602492,6	K562	blood:
2	chr1:212585974..212594847-chr1:212598812..212609579,19	K562	blood:
3	chr1:212598606..212601343-chr1:212603803..212606120,2	K562	blood:

Variant related genes	Relation type
ENSG00000065600	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10157725	1.00[ASN][1000 genomes]
rs11803526	1.00[ASN][1000 genomes]
rs11803766	1.00[EUR][1000 genomes]
rs12739715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018997	1.00[EUR][1000 genomes]
rs17019266	1.00[ASN][1000 genomes]
rs17019397	1.00[ASN][1000 genomes]
rs2007776	1.00[ASN][1000 genomes]
rs3001261	1.00[ASN][1000 genomes]
rs35030678	1.00[ASN][1000 genomes]
rs35702733	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35822123	0.83[EUR][1000 genomes]
rs4336916	0.99[EUR][1000 genomes]
rs4540733	0.94[EUR][1000 genomes]
rs492231	1.00[ASN][1000 genomes]
rs498564	1.00[ASN][1000 genomes]
rs56085986	1.00[ASN][1000 genomes]
rs58972361	1.00[ASN][1000 genomes]
rs593750	1.00[ASN][1000 genomes]
rs61331273	1.00[ASN][1000 genomes]
rs641053	1.00[ASN][1000 genomes]
rs648577	1.00[ASN][1000 genomes]
rs6656320	1.00[ASN][1000 genomes]
rs6666415	1.00[EUR][1000 genomes]
rs6669027	0.96[EUR][1000 genomes]
rs6676208	0.94[EUR][1000 genomes]
rs6680374	1.00[ASN][1000 genomes]
rs6687793	1.00[ASN][1000 genomes]
rs6693849	0.82[EUR][1000 genomes]
rs6697910	0.99[EUR][1000 genomes]
rs6704234	0.99[EUR][1000 genomes]
rs71646158	0.83[EUR][1000 genomes]
rs71646159	0.94[EUR][1000 genomes]
rs71646161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138106	1.00[ASN][1000 genomes]
rs74138110	1.00[ASN][1000 genomes]
rs74138553	1.00[ASN][1000 genomes]
rs74138559	1.00[ASN][1000 genomes]
rs74140412	1.00[ASN][1000 genomes]
rs7515005	1.00[ASN][1000 genomes]
rs7530106	1.00[ASN][1000 genomes]
rs7533689	1.00[EUR][1000 genomes]
rs7533954	1.00[ASN][1000 genomes]
rs7537172	1.00[ASN][1000 genomes]
rs7538315	1.00[ASN][1000 genomes]
rs7549085	1.00[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	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7551910	RP11-15I11.3	cis	Adipose Subcutaneous	GTEx
rs7551910	RP11-15I11.3	cis	Thyroid	GTEx
rs7551910	RP11-15I11.3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212591000-212605600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:212598400-212605600	Weak transcription	Brain Substantia Nigra	brain
3	chr1:212598600-212603800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:212598800-212603800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:212598800-212605600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:212599000-212601800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:212599800-212600200	Weak transcription	Placenta	Placenta

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