Variant report

Variant	rs12550631
Chromosome Location	chr8:91160515-91160516
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91160123..91162835-chr8:91174934..91176685,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10504889	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504890	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12541460	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12542162	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12542331	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12542532	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12543449	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12544878	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546756	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546761	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548251	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549228	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12549284	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549654	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549888	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550495	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1554925	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1554926	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1569318	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1569319	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16903685	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16903803	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16903844	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904010	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142095	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178829	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61113365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61513100	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73308356	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34347	chr8:91101339-91179126	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv470225	chr8:91113616-91229254	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv891184	chr8:91114698-91222654	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv824687	chr8:91144854-91177488	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv35109	chr8:91150726-91226940	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv818643	chr8:91153308-91212148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12550631	RIN1	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91158600-91167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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